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Gene: Wt1 MGI:98968

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
WT1 transcription factor
Synonyms:
Wilms tumor 1 homolog,  D630046I19Rik,  Wt-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Wt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Wt1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... ORPHA:347
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Meacham Syndrome
Accessory spleen, Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Scimitar anomaly... OMIM:608978
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog... ORPHA:3097
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Wilms Tumor 1
Nephroblastoma OMIM:194070
Nephroblastoma
Hematuria, Nephroblastoma ORPHA:654
Desmoplastic Small Round Cell Tumor
Ascites, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovarian neoplasm, Neo... ORPHA:83469
Mesothelioma, Malignant
OMIM:156240

The table below shows human diseases predicted to be associated to Wt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... OMIM:617006
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr... ORPHA:567544
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Renal insufficiency OMIM:615987
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Adrenal i... OMIM:617575
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... OMIM:608709
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... ORPHA:347
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Alport Syndrome
Thickened glomerular basement membrane, Clitoral hypertrophy, IgA deposition in the glomerulus, R... ORPHA:63
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Spermatocele, Male infertility, Nephrolithiasis OMIM:301060
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis OMIM:616067
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Mesangial hypercellularity, Arthritis OMIM:616414
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst OMIM:617056
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of the kidney OMIM:615982
8p23.1 deletion syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula... DECIPHER:39
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Neonatal death OMIM:615524
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hypogonadism, Decreased glomerular filtr... ORPHA:85450
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Fetal Encasement Syndrome
Horseshoe kidney, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congen... OMIM:613630
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney,... ORPHA:2578
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Pyknoachondrogenesis
Stillbirth OMIM:265880
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency OMIM:618681
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Bifid scrotum, Gonadal dysgenesis, Decreased testicular size, Testic... OMIM:616425
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal circulating estrog... ORPHA:90797
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Decreased response to growth hormone stimulation test, Protei... OMIM:618347
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes, Ompha... ORPHA:563609
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation OMIM:619858
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mild proteinuria OMIM:301108
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Death in childhood, Death in infancy, Neonatal de... OMIM:614096
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Flexion contracture, Emphysema, Congenital diaphragmatic hernia ORPHA:171719
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... OMIM:615415
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia OMIM:614100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatic cysts, Colonic eosinophilia, Membranous nephropathy, Nephrotic syndrome OMIM:618999
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Leopard Syndrome 1
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Dela... OMIM:151100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Testicular atrophy, P... OMIM:601163
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Protei... ORPHA:93126
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Small hypothenar eminence, Aplasia/hypoplasia o... ORPHA:2232
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia ORPHA:2140
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Senior-Loken Syndrome
Chronic kidney disease, Premature ovarian insufficiency, Stage 5 chronic kidney disease, Nephrono... ORPHA:3156
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma OMIM:609180
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Gonadal dysgenesis, Abnormal female external genital... OMIM:400044
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc... OMIM:602522
Mpdu1-Cdg
Renal cortical cysts, Eczematoid dermatitis ORPHA:79323
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, F... OMIM:617194
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... OMIM:601076
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Coronary artery atherosclerosis, Proteinuria, Glomerul... ORPHA:439232
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Nephronophthisis
Renal insufficiency ORPHA:655
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Cryptorchidism ORPHA:261102
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death OMIM:615228
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Delayed puberty, Aplasia of the ovary, Elevated c... OMIM:614324
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Coarctation of aorta, Diffuse mesangial sclerosis, G... OMIM:617729
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Congenital diaphragmatic hernia, Abnormality of the p... ORPHA:1166
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Serkal Syndrome
Abnormal penis morphology, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal d... ORPHA:139466
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Bone-marrow foam cells, Renal insufficiency OMIM:256150
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Thyroiditis OMIM:619375
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... OMIM:253310
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male, Right aortic arch OMIM:231060
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphr... ORPHA:1120
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphade... OMIM:614034
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hern... OMIM:263210
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Hypogonadism, Renal insufficiency, Cryptorchidism, Testicular seminoma ORPHA:281090
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal spleen morphology, Ab... ORPHA:2470
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Renal insufficiency, Hydronephrosis OMIM:615996
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Sex reversal OMIM:613743
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... ORPHA:730
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Sex reversal OMIM:613080
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Agenesis of pulmonary vessels, Multilobulated spleen, Alveolar capilla... OMIM:601186
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis ORPHA:375
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Arthrogryposis multiplex congenita, Knee flexion contractur... OMIM:616531
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur... OMIM:615559
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Azoospermia, Type II diabetes mellitus, Oligozoospermi... OMIM:615703
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti... OMIM:603860
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr... ORPHA:3032
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... OMIM:240300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascu... ORPHA:244
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Congen... OMIM:611812
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Cryptorchidism OMIM:613861
Oligomeganephronia
Unilateral renal agenesis, Secundum atrial septal defect, Branchial cyst, Bilateral renal hypopla... ORPHA:2260
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:971
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Premature ovarian ins... ORPHA:3375
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Deleted in azoospermia
Azoospermia OMIM:400003
Meacham Syndrome
Accessory spleen, Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Scimitar anomaly... OMIM:608978
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... OMIM:619644
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Stormorken Syndrome
Howell-Jolly bodies, Myopathy, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Joubert Syndrome 20
Renal cyst OMIM:614970
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... ORPHA:29072
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Camptodactyly of finger, Abnormal lung lobation ORPHA:2631
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Right Atrial Isomerism
Total anomalous pulmonary venous return, Polysplenia, Abnormal lung lobation, Abdominal situs amb... OMIM:208530
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Bardet-Biedl Syndrome 6
External genital hypoplasia, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Spermatogenic Failure 17
Male infertility OMIM:617214
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino... OMIM:145001
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Micropenis, Hypospadias, Pulmonary hy... OMIM:300978
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Proteinuria, Omphal... ORPHA:2143
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Anencephaly, Ventral hernia, Transposition of the great arteries... OMIM:313850
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog... ORPHA:3097
48,Xyyy Syndrome
Abnormal renal morphology, Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... OMIM:146255
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
C Syndrome
Renal cortical cysts OMIM:211750
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism ORPHA:36
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Adrenal gland agenesis, Asplenia, Peripheral pulmonary vessel ap... OMIM:273395
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Neonatal death OMIM:619003
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Laurence-Moon Syndrome
Type II diabetes mellitus, Renal insufficiency, Cryptorchidism, Displacement of the urethral meat... ORPHA:2377
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Euthyroid goiter ORPHA:3327
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Atheroscleros... ORPHA:1830
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Hypergona... ORPHA:250999
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Death in infancy OMIM:602361
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Neonatal death OMIM:245650
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Oligohydramnios, Congenital d... OMIM:609029
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis OMIM:603592
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... OMIM:618901
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolith... ORPHA:79259
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... ORPHA:70588
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... ORPHA:48
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Aplasia... ORPHA:2063
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Compensated hypothyroidism, Glomerular sclerosis ORPHA:247691
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Occipital encephalocele, Congenital dia... ORPHA:887
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Recurrent aspiration pneumonia... ORPHA:397715
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Congenital diaphragmatic her... ORPHA:1335
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hypogonadism OMIM:616629
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Trisomy 1Q
Multicystic kidney dysplasia, Camptodactyly of finger, Increased nuchal translucency, Congenital ... ORPHA:261344
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis ORPHA:99931
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Glomerulonephritis, Arthritis, Acute... ORPHA:2137
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat... OMIM:610978
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Czeizel-Losonci Syndrome
Ureteral agenesis, Myelomeningocele, Hydronephrosis, Spina bifida, Dextrocardia, Spina bifida occ... ORPHA:2437
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency, Hyperphosp... ORPHA:99879
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnorma... ORPHA:91139
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphragmatic hernia, Proteinuria... OMIM:166300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Coffin-Siris Syndrome 3
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Macroglossia, Central diaphragmatic... OMIM:614608
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Incr... ORPHA:171430
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr... OMIM:617303
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Proteinuria, Knee osteoarthritis, Glome... ORPHA:2035
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Diaphragmatic eventration, Generalized amyotrophy... OMIM:616866
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232240
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep... OMIM:618280
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Schisis Association
Congenital diaphragmatic hernia, Encephalocele, Spina bifida, Omphalocele, Anencephaly ORPHA:63862
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Oligohyd... OMIM:219100
Hepatic Veno-Occlusive Disease
Renal insufficiency ORPHA:890
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria, Menorrhagia ORPHA:182050
15Q24 Microdeletion Syndrome
Microphallus, Myelomeningocele, Abnormal heart morphology, Congenital diaphragmatic hernia, Herni... ORPHA:94065
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Rheumatoid arthritis, Unilateral renal hypoplasia, Renal insufficiency, Uret... ORPHA:49041
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Lcat Deficiency
Acute kidney injury, Premature coronary artery atherosclerosis, Atherosclerosis, Decreased glomer... ORPHA:650
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... ORPHA:284180
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E... OMIM:130650
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Pancreatic islet-c... OMIM:276700
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmat... OMIM:613177
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Camptodactyly of finger, Abnormality of the ureter, Congenital diaphragmatic he... ORPHA:2311
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the liver, Congenital diaphragmatic hernia, Aplasia/Hyp... ORPHA:1834
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Nephronophthisis 19
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Renal interstitial fibr... OMIM:616217
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Oligohydramnios, Congenital d... ORPHA:96170
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia ORPHA:2123
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cooper-Jabs Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly of finger, Umbilical he... ORPHA:1488
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Mosaic Trisomy 9
Abnormal lung lobation, Camptodactyly of finger, Cryptorchidism, Asplenia, Patent ductus arterios... ORPHA:99776
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Axial Osteomalacia
Renal cyst OMIM:109130
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Renal tubular aci... OMIM:613404
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Malaria
Acute kidney injury ORPHA:673
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne ORPHA:69126
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Aplasia of the left hemidiaphragm OMIM:618238
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelitis, Renal insuffi... ORPHA:36234
Non-Syndromic Posterior Hypospadias
Androgen insufficiency, Congenital diaphragmatic hernia, Cryptorchidism, Omphalocele, Abnormality... ORPHA:95706
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency ORPHA:510
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Young Syndrome
Azoospermia OMIM:279000
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Preeclampsia
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Renal insufficiency, Polyc... ORPHA:275555
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... OMIM:616777
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Medullary nephrocalcinosis, Congenital diaphragmatic hernia, Achil... ORPHA:363528
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Cryptorchi... ORPHA:3027
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Stillbirth, Neonatal death OMIM:236500
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Adrenal insufficiency, Renal insufficiency, Lacticaciduria OMIM:619386
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Death in infancy, Stillbirth OMIM:256050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:616733
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hyperca... ORPHA:251274
Thymoma
Myositis, Rheumatoid arthritis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency ORPHA:28
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Annular pancreas, Abnormal lung lobation, Alveolar capillary dysplas... OMIM:265380
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Decreased response to growth hormone stimulation test, ... OMIM:602152
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Umbilical hernia, Horseshoe kidney, Camptodactyly of finger, Abnorm... ORPHA:2092
Gapo Syndrome
Breast hypoplasia, Hypoplastic nipples, Tubulointerstitial fibrosis OMIM:230740
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Atelectasis, Neonatal death OMIM:300219
Melas
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ... ORPHA:550
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Renal agenesis, Abnormali... ORPHA:93111
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Hepatic cysts, Ovarian cyst ORPHA:400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Polycystic kidney dysplasia, Hypospadias, Renal cortical microcysts OMIM:614866
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Congenital diaphragmatic hernia, Anencephaly, Micropenis, Atrial septal de... OMIM:616546
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Elevated c... ORPHA:79318
13Q12.3 Microdeletion Syndrome
Camptodactyly, Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:412035
Kagami-Ogata Syndrome
Diastasis recti, Splenomegaly, Inguinal hernia, Omphalocele, Hepatomegaly, Flexion contracture, P... OMIM:608149
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the spleen, Congenital diaphragmatic hernia, Death in... ORPHA:991
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death OMIM:601612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Multi... OMIM:118450
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Umbilical hernia, Tetr... OMIM:600001
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Bifid scrotum, Renal insufficiency, Cryptorchidism, Hypothyroidism, Hypoplasia ... ORPHA:85321
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis sicca, Arthriti... ORPHA:91138
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, Co... ORPHA:280679
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia... ORPHA:411709
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Right aortic arch, Absent outer dynein arms OMIM:618300
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Trichohepatoenteric Syndrome 1
Galactosuria, Hypospadias, Renal cortical microcysts OMIM:222470
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Decrease... ORPHA:335
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Maternal diabetes, Abnormal localization of... ORPHA:1988
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo... ORPHA:90291
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Omphalocele, Mesenteric cyst, Pulmonary artery atresia, Recurrent respiratory inf... OMIM:618316
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Renal dyspl... OMIM:314300
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Bilateral cryptorchidism OMIM:617746
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnorma... ORPHA:261197
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Proteinuria, Omphal... OMIM:222448
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Bruising susceptibility, Um... OMIM:208050
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria ORPHA:411543
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Membranoproliferativ... OMIM:615816
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrophy, Diabetes ins... OMIM:222300
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Fryns Syndrome
Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Congenital diaphragmati... ORPHA:2059
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Renal insufficie... ORPHA:96179
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Abnormality of... ORPHA:168569
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Death in infancy, Pulmonary hypoplasia OMIM:241800
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Patent ductus arteriosus, Annular pancreas ORPHA:210122
Bardet-Biedl Syndrome 9
Irregular menstruation, Renal insufficiency OMIM:615986
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ACTH concent... OMIM:219080
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Omphalocele, Pulmonary hypoplasia ORPHA:3035
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Congenital diaphragmatic hernia, Macrocytic anemia OMIM:606164
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Zaki Syndrome
Hydronephrosis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of... ORPHA:2255
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... ORPHA:37042
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Synovitis, Glomerulopathy... ORPHA:77297
Alg3-Cdg
Lipodystrophy, Macroglossia, Abnormality of the endocrine system, Arthrogryposis multiplex congen... ORPHA:79321
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia OMIM:602579
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal cardiac sept... ORPHA:2075
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Abnormal hemidiaphragm morphology, Pneumothorax, Recurrent ... ORPHA:2257
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi... ORPHA:2973
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Macrocytic anemia, Steroid-respon... OMIM:613309
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Arthritis, ... ORPHA:36412
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Calf muscle hypertroph... ORPHA:280356
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Camptodactyly of finger, Cryptorchidi... OMIM:249000
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Hypothyroidism ORPHA:445038
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Pro... ORPHA:48435
Fetal Akinesia Deformation Sequence
Generalized amyotrophy, Camptodactyly of finger, Multiple joint contractures, Cryptorchidism, Art... ORPHA:994
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Pulmonary hypoplasia ORPHA:1486
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia OMIM:612530
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Klippel-Trénaunay Syndrome
Cellulitis, Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive ... ORPHA:90308
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Type I diabetes mellitus, Secondary amenorrhea ORPHA:488618
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis ORPHA:73246
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephrosis, Atrial septal defect, Pol... OMIM:614080
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Asplenia, Patent ductus arteriosus, Anomalous pulmonar... OMIM:619657
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency, Cryptorchidism ORPHA:1307
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypernatriuria, Abno... ORPHA:168558
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Decreased glomerular fi... ORPHA:340
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypernatriuria, Abno... ORPHA:289548
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Gitelman Syndrome
Focal segmental glomerulosclerosis, Type I diabetes mellitus, Enuresis, Graves disease, Type II d... ORPHA:358
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Autoimmune Polyendocrinopathy Type 3
Thymoma, Type I diabetes mellitus, Non-caseating epithelioid cell granulomatosis, Graves disease,... ORPHA:227982
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ... OMIM:250790
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Muckle-Wells Syndrome
Renal amyloidosis, Renal insufficiency OMIM:191900
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Systemic Lupus Erythematosus
Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Arthritis, Cheilitis, Py... ORPHA:536
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Premature coronary artery atherosclerosis, Decrea... OMIM:300845
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Vesicoureter... ORPHA:2237
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Inguinal hernia, Increased serum testosterone level, Thrombocytop... ORPHA:96181
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyotype OMIM:264300
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis,... ORPHA:443811
Lead Poisoning
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased circ... ORPHA:330015
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Camptodactyly, ... OMIM:617602
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct... ORPHA:213
Lowry-Maclean Syndrome
Atrioventricular canal defect, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia ORPHA:2409
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Hypogonadotropic hypogonadism, Coarct... OMIM:617159
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Thyroid adenoma, Ovarian dermoid cyst, Uterine leiomyoma ORPHA:480536
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... ORPHA:322
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Uret... OMIM:140000
Meckel Syndrome, Type 6
Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Renal cyst, Abnormal... OMIM:612284
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Extrapulmonary lob... OMIM:200995
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormal hemidiaphragm morphology, Hypoplasia of ... ORPHA:185
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Torticollis, Omphalocel... OMIM:617022
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... ORPHA:251066
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism ORPHA:2115
Babesiosis
Renal insufficiency ORPHA:108
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Abnormality of the endocrine system, Cryptorchidism ORPHA:166035
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Autoimmune Polyendocrinopathy Type 4
Thymoma, Type I diabetes mellitus, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypopla... ORPHA:227990
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Polysplenia, Abdominal situs inversus, Biliary atresia, ... OMIM:306955
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Flexion contracture, Bicornuate uterus OMIM:268650
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Abdominal situs ambiguus, Bila... OMIM:270100
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin... ORPHA:79101
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal def... OMIM:614294
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Myositis, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis OMIM:620565
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis OMIM:300322
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Neonatal death, Anemia, Thrombocytopenia, Hepatomegaly, Arthrog... OMIM:608013
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome, Hyp... OMIM:202110
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... OMIM:261740
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Congenital diaphragmatic... OMIM:618454
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... ORPHA:403
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Atherosclerosis, Decreased glomer... ORPHA:93598
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... ORPHA:404
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade... ORPHA:99880
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Arthrogryposis multiplex congenita, Umbilical hernia, Congenital diaph... OMIM:265000
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Cryptorchidism, Ambiguous genitalia, Hypospadias, Enlarged kidney, S... OMIM:612651
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal lung lobation ORPHA:958
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... ORPHA:93552
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Trisomy 18
Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:3380
Pseudoaminopterin Syndrome
Asplenia, Inguinal hernia, Posterolateral diaphragmatic hernia, Cryptorchidism ORPHA:221120
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias ORPHA:1552
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal circulating calcium-phosphate regulating h... ORPHA:1031
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... OMIM:256550
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Cryptorchidism, Neonatal death OMIM:224410
Kleefstra Syndrome
Supernumerary nipple, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Hydronephrosis,... ORPHA:261494
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp... ORPHA:3378
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting OMIM:613845
Parathyroid Carcinoma
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid ca... ORPHA:143
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis, Co... ORPHA:90068
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Hypoparathyroidism OMIM:247410
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Halperin-Birk Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Perimembranous ventricular se... OMIM:618651
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplastic aortic arch OMIM:620511
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Severe Acute Respiratory Syndrome
Acute kidney injury, Diabetes mellitus ORPHA:140896
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:1263
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Opitz Gbbb Syndrome
Umbilical hernia, Abnormal heart morphology, Vesicoureteral reflux, Congenital diaphragmatic hern... ORPHA:2745
Thakker-Donnai Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephrosis, ... ORPHA:1780
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Cryptorchidism, Ing... OMIM:248700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Abnormal salivary gland morphology ORPHA:314652
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Oligo... OMIM:614437
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Abnormal testis morphology ORPHA:1548
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal... ORPHA:2869
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Hydronephrosis, Polyh... OMIM:607598
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Asplenia, Patent ductus arteriosus OMIM:164280
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect ORPHA:1915
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... OMIM:614702
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Increased inflammatory re... ORPHA:183
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Pancreat... OMIM:267010
Congenital Myopathy 22B, Severe Fetal
Generalized amyotrophy, Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexio... OMIM:620369
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency ORPHA:79312
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Hepat... ORPHA:79083
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria ORPHA:324525
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Cryptorchidism, Proteinuria, Chordee, Hypothyroidism, Hypopla... OMIM:300519
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Intrauterine growth retardation, Polyhydramnios, Co... OMIM:236680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficienc... ORPHA:140952
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Hypothyroidism, Renal insufficiency, Hypoparathyroidism ORPHA:1563
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Atelectasis, Splenomegaly, Inguinal hernia, Neonatal death, Hypoplastic nipp... OMIM:269860
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, Adrenal hy... OMIM:615830
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Renal Nutcracker Syndrome
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, Dy... ORPHA:71273
Liddle Syndrome 1
Decreased circulating aldosterone level, Renal insufficiency, Decreased circulating renin level OMIM:177200
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion, Micropenis, Cryptorchidism OMIM:614684
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Intraalveolar phospholipid accumulation OMIM:300770
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Flexion contracture, Pulmonary hypoplasia OMIM:312150
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Lymphadenitis OMIM:618886
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ectopic kidney, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Abnormal renal tubule morphology ORPHA:188
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Oliguria, Renal insufficiency ORPHA:220393
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
White-Sutton Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Atrial septal defect, Facial hypotonia, Pa... OMIM:616364
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr... ORPHA:95699
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Po... OMIM:618846
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Premature ovarian insufficiency, Proteinuria, Renal cyst, Hypothyroidism, N... OMIM:212065
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Hypoplastic male external genitalia OMIM:608091
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Parathyroid adenoma, Pulm... ORPHA:122
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Alg9-Cdg
Hypoplasia of the musculature, Periportal fibrosis, Abnormal heart morphology, Tricuspid regurgit... ORPHA:79328
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency ORPHA:27
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Legionnaires Disease
Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Pancreatitis, My... ORPHA:549
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Perlman Syndrome
Renal hamartoma, Ascites, Congenital diaphragmatic hernia, Polyhydramnios, Hypoplasia of the abdo... OMIM:267000
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne... ORPHA:289390
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Simpson-Golabi-Behmel Syndrome
Macroglossia, Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Umbilical hernia, Bundle... ORPHA:373
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia, Neonatal death OMIM:187600
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,... ORPHA:556
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Renal cyst, Renal insufficiency, Right aortic arch OMIM:617478
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Bruising suscep... ORPHA:189427
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Fanconi Anemia, Complementation Group A
Renal agenesis, Horseshoe kidney, Cryptorchidism, Abnormal renal morphology, Hypergonadotropic hy... OMIM:227650
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Intrarenal abscess, Sacroiliac arthritis, Osteomyelitis... ORPHA:1304
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst, Ambiguou... OMIM:257300
Meckel Syndrome
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... ORPHA:564
Distal Deletion 15Q
Hypoplastic left heart, Multicystic kidney dysplasia, Double outlet right ventricle with doubly c... ORPHA:1596
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Pulmonary hypoplasia OMIM:253290
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Coarctation of aorta, Abnormal testis... ORPHA:96147
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Hypoplasia of the thymus, Polycystic kidney ... OMIM:214110
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Elbow flexion contracture, Reduced renal corticomedullary differenti... OMIM:122470
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Abnormality of the uterus, Recurrent urinary trac... ORPHA:84
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... ORPHA:2162
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic fibro... OMIM:208500
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Helix Syndrome
Hyperparathyroidism, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Tuberous Sclerosis 1
Precocious puberty, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Renal cell carcinoma, Adeno... OMIM:191100
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Myopathy, Polycystic ov... ORPHA:2348
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Miscarriage, Cryptorchidism, Pulmonary hypoplasia ORPHA:1865
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Zellweger Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Primary adrenal insufficiency, Cryptorchidism... ORPHA:912
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Peripheral arterial stenosis, Hyperoxaluria, Renal insufficiency, Hematuria, El... OMIM:259900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Hypercalciuria, Male infertility ORPHA:2239
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Renal cell carcinoma, Ep... OMIM:193300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Pulmonary hypoplasia OMIM:617895
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
White-Sutton Syndrome
Abnormal heart morphology, Inguinal hernia, Congenital diaphragmatic hernia, Ventral hernia, Faci... ORPHA:468678
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo... ORPHA:2473
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Low-molecular-weight pro... OMIM:219800
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Wild Type Attr Amyloidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria ORPHA:330001
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Genitopatellar Syndrome
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Hydronephrosis ORPHA:85201
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Proteinuria, Camptodactyly, Pericardial effusio... ORPHA:1272
Iniencephaly
Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocele, Congenita... ORPHA:63259
Tuberous Sclerosis 2
Precocious puberty, Renal angiomyolipoma, Renal cyst, Hypothyroidism, Renal cell carcinoma, Adeno... OMIM:613254
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Spontaneous pneumothorax, Bruising susceptibility, Umbilical hernia, Tra... OMIM:619656
Immunoglobulin A Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl... ORPHA:761
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Coarctation of aorta, Renal dy... OMIM:617260
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Diastasis recti, Encephalocele, Short umbilical cord... ORPHA:2369
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ... OMIM:236700
Fryns Syndrome
Joint contracture of the hand, Chylothorax, Polysplenia, Cryptorchidism, Omphalocele, Stillbirth,... OMIM:229850
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Cryptorchidism, Hydronephrosis, Hypospadias, Hemolytic-uremic syndrome OMIM:611209
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defe... OMIM:212093
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Pulmonary hypoplasia, Neonatal death OMIM:314390
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Joubert Syndrome 6
Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis OMIM:610688
Acquired Generalized Lipodystrophy
Cardiomyopathy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular sy... ORPHA:79086
Al Amyloidosis
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
Mirage Syndrome
Aspiration pneumonia, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, ... OMIM:617053
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Hypogonadism, Umbilical hernia, Cryptorchidism,... ORPHA:2990
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism ORPHA:3301
Sickle Cell Disease
Hematuria, Cholelithiasis, Renal insufficiency, Priapism OMIM:603903
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena... ORPHA:805
Ogden Syndrome
Peripheral pulmonary artery stenosis, Decreased testicular size, Cryptorchidism, Pulmonary artery... OMIM:300855
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... OMIM:613090
Joubert Syndrome 14
Renal cyst OMIM:614424
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... OMIM:239850
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Diaphragmatic eventration, Cryptorchidism, Aortopulmonary window, He... OMIM:620025
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art... ORPHA:3261
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Abnormal lung lobation, Atrioventricular canal defect, Abnormal den... ORPHA:818
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hyperparathyroidism, Nephrocalcinosis, Abnormal circulating calcium-phosphate regu... ORPHA:534
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricosuria, Uric acid nephrolithiasis, Hy... OMIM:300661
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Stillbirth OMIM:151210
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Epidermal Nevus Syndrome
Aortic aneurysm, Polycystic kidney dysplasia ORPHA:35125
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Tetrasomy 5P
Recurrent respiratory infections, Aplasia/Hypoplasia of the abdominal wall musculature, Pericallo... ORPHA:3309
Boutonneuse Fever
Renal insufficiency ORPHA:83313
Fabry Disease
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency OMIM:301500
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Congenital diaphragmatic hernia, I... ORPHA:96121
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep... ORPHA:728
Beckwith-Wiedemann Syndrome
Nephropathy, Macroglossia, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Vesicou... ORPHA:116
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Lamellar Ichthyosis
Renal insufficiency ORPHA:313
Feingold Syndrome Type 1
Interrupted aortic arch, Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency,... ORPHA:391641
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Multiple bladder diverticula ORPHA:2728
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Omphalocele, Pulmonary hypoplasia OMIM:145420
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent ductus... OMIM:619148
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... ORPHA:261318
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome OMIM:301110
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency, Thyroiditis ORPHA:139402
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Multiple renal cysts, Uterine leiomyoma ORPHA:220460
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture OMIM:615919
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Skeletal muscle atrophy, ... OMIM:246200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral ... OMIM:608836
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Adrenal hypoplasia, Stillbirth, Flexion contracture, Thyroid hypoplasia, Pulmon... OMIM:308050
Erdheim-Chester Disease
Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Diabetes insipidus, Dysuria ORPHA:35687
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Congenital Myopathy 17
Pulmonary hypoplasia, Respiratory tract infection, Myopathy, Distal arthrogryposis, Diaphragmatic... OMIM:618975
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney, Metrorrhagia ORPHA:464329
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Renal insufficiency, Mild proteinuria OMIM:619147
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Decreased ... OMIM:610199
Meningococcal Meningitis
Increased circulating procalcitonin concentration, Renal insufficiency ORPHA:33475
Calciphylaxis
Stage 5 chronic kidney disease, Secondary hyperparathyroidism, Arterial calcification ORPHA:280062
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ... ORPHA:231580
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Abnormality of the ureter, Oligohydramnios, Congenital diaphragmatic h... OMIM:200980
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Scrub Typhus
Renal insufficiency ORPHA:83317
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Renal insufficiency ORPHA:440713
Achondrogenesis
Inguinal hernia, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:932
Greenberg Dysplasia
Bone marrow hypocellularity, Abnormal lung lobation, Hepatosplenomegaly, Pancreatic islet-cell hy... OMIM:215140
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Decreased testicular size, Hydr... ORPHA:261349
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria, Gout OMIM:232800
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Decreased urine output, Renal tubular ... ORPHA:31826
Xfe Progeroid Syndrome
Proteinuria, Premature ovarian insufficiency, Renal insufficiency OMIM:610965
Farber Disease
Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ... ORPHA:333
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating hepatic transami... ORPHA:264580
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Spontaneous pneumothorax, Recurrent pneumonia, Periportal fibrosis, Cholestasis... ORPHA:731
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Omphalocele, Stillbirth, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616300
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Abnormality of the hypothalamus-p... ORPHA:1454
Ohdo Syndrome
Proteinuria OMIM:249620
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Leukocyte Adhesion Deficiency
Pneumonia, Recurrent urinary tract infections, Vaginitis, Osteomyelitis, Recurrent aphthous stoma... ORPHA:2968
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... ORPHA:79404
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyu... OMIM:613677
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pneumothorax, Pleural effusion, Bronchiectasis ORPHA:411703
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Arteriosclerosis, Calcification of the aorta, Delayed puberty OMIM:208060
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proximal muscle weakness in... ORPHA:435660
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Hernia, Atrial septal defect, A... ORPHA:280
Bardet-Biedl Syndrome
Chronic kidney disease, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Hepatic stea... ORPHA:110
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Abnormality of the hypothalamus-pituitary axis ORPHA:220497
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Right ventricular hypertrophy, Anomalous ori... ORPHA:3384
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciur... ORPHA:369837
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Atelosteogenesis Type I
Multiple renal cysts, Abnormal pancreatic duct morphology ORPHA:1190
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Neonatal death OMIM:251230
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Lymphopenia, Knee flexion contracture, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Achondrogenesis Type 1B
Femoral hernia, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:93298
Alstrom Syndrome
Irregular menstruation, Nephritis, Insulin-resistant diabetes mellitus, Atherosclerosis, Decrease... OMIM:203800
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Encephalocele, Congenital diaphragmatic her... ORPHA:2911
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hyperaldosteronism, Stage 5 chroni... ORPHA:89938
Snakebite Envenomation
Hypopituitarism, Acute kidney injury ORPHA:449285
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Craniofrontonasal Syndrome
Umbilical hernia, Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Unilateral ... OMIM:304110
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Limb hypertonia, Pulmonary hypoplasia OMIM:620306
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ren... ORPHA:1667
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Cryptorchidism, Hydronephrosis, Renal cyst, Micropenis, P... ORPHA:464311
Tetraploidy
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus ORPHA:3305
Achondrogenesis Type 1A
Femoral hernia, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:93299
Refsum Disease
Renal insufficiency ORPHA:773
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Camptodactyly of finger, Multiple jo... ORPHA:2570
Acute Adrenal Insufficiency
Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Renal in... ORPHA:95409
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Skin rash, Orchitis, Proteinuria, Peritonitis, Pancrea... ORPHA:342
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomer... OMIM:619525
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Raine Syndrome
Death in infancy, Neonatal death, Enamel hypoplasia, Arthrogryposis multiplex congenita, Pulmonar... OMIM:259775
Kabuki Syndrome
Crossed fused renal ectopia, Ureteropelvic junction obstruction, Congenital diaphragmatic hernia,... ORPHA:2322
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgi... ORPHA:2556
Stevens-Johnson Syndrome
Dysuria, Dyspareunia, Renal insufficiency, Abnormality of the urethra ORPHA:36426
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... ORPHA:1018
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Glomerul... ORPHA:900
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Lymphatic Malformation 6
Facial edema, Generalized edema, Cellulitis, Chylothorax, Lymphedema, Ascites, Genital edema, Ple... OMIM:616843
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Renal cyst, Abnormal adrenal morphology, Pancreatic c... ORPHA:284
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Arthritis, Juven... ORPHA:1855
Cockayne Syndrome Type 1
Proteinuria, Male hypogonadism, Renal insufficiency, Cryptorchidism ORPHA:90321
Fetal Akinesia Deformation Sequence 1
Generalized amyotrophy, Congenital contracture, Decreased muscle mass, Camptodactyly of finger, E... OMIM:208150
Pyomyositis
Testicular teratoma, Renal insufficiency ORPHA:764
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Sterile pyuria, Beta 2-mi... ORPHA:91500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Breast hypoplasia, Cryptorchidism, Hydronephrosis, Renal ... ORPHA:464306
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Proteinuria, Arthritis, Arthralgia/arthritis, Myo... ORPHA:829
Relapsing Fever
Hematuria, Acute kidney injury, Abnormality of the urinary system ORPHA:91547
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Elbow flexion contracture, Death in infancy, Knee flexion contracture... OMIM:601559
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Ventricular septal defect, Arrhythmia, Atrial septal defect, Hyp... OMIM:312870
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Cryptorchidism, Pancreatitis, Limb hype... OMIM:620371
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Hyperparathyroidism OMIM:620366
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Lymphedema, Horseshoe kidney, Umbilical hernia, Pleural effusion, ... OMIM:235510
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Neoplasm of the pancreas, Elevated urinary catecholamin... ORPHA:892
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:619879
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Ascites, Primary adrenal insufficien... ORPHA:2905
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Bloom Syndrome
Recurrent urinary tract infections, Azoospermia, Nephroblastoma, Oligozoospermia, Premature ovari... ORPHA:125
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... OMIM:618775
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Renal insufficiency, Hematuria, Diabetes insipidus ORPHA:397
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration... OMIM:608594
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Camptodactyly of finger ORPHA:2635
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Stillbirth OMIM:200600
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele... ORPHA:79473
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Generalized muscul... OMIM:269700
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Cryptorchidism ORPHA:1027
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Ascites, Peripheral edema, Pleural effusion, Ovarian... ORPHA:64739
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, P... ORPHA:846
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular sept... OMIM:154400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote... ORPHA:505248
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Hypothyroidism, Arterial stenosis, Displacement of the urethral meatus ORPHA:1556
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal hemidiaphragm morphology, Pulmonary edema, Patent ductus arteriosus... ORPHA:980
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Nephrocalcinosis, Varicocele, Dilatation of the renal pelvis, Re... ORPHA:2044
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Peri... ORPHA:2538
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Reduced pancreatic beta cells, Renal insufficiency, Insulin-resistant d... OMIM:226980
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Mitochondrial swelling, Lacticaciduria OMIM:618250
Castleman Disease
Hematuria, Ureteral obstruction, Renal insufficiency ORPHA:160
Spondylodysplastic Ehlers-Danlos Syndrome
Hypogonadism, Elbow flexion contracture, Atrophic scars, Cryptorchidism, Multiple joint contractu... ORPHA:536471
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Cardiospondylocarpofacial Syndrome
Horseshoe kidney, Muscular ventricular septal defect, Vesicoureteral reflux, Mitral regurgitation... OMIM:157800
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Renal cy... ORPHA:495875
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Umbilical hernia, Tetralogy of Fallot, Congenital diaphragmatic he... OMIM:135900
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Necrotizing enterocolitis, Dicarboxylic aciduria OMIM:201475
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
D-Bifunctional Protein Deficiency
Renal cyst, Primary adrenal insufficiency, Bile duct proliferation OMIM:261515
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl... ORPHA:96148
Congenital Enterovirus Infection
Hepatic failure, Fetal ascites, Hypotension, Hepatitis, Cardiomyopathy, Abnormal bleeding, Choles... ORPHA:292
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
Verloove Vanhorick-Brubakk Syndrome
Abnormality of the parathyroid gland, Aplasia/Hypoplasia of the lungs, Cryptorchidism ORPHA:3429
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury ORPHA:244242
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Tafro Syndrome
Renal insufficiency, Elevated vascular endothelial growth factor level ORPHA:457077
Arterial Calcification, Generalized, Of Infancy, 1
Arterial stenosis, Carotid artery calcification, Renal artery stenosis, Generalized arterial calc... OMIM:208000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria OMIM:251000
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Retinal hemorrhage, Hematuria, Hepatomegaly, Tachycardia, Jaundice, Purpura, E... ORPHA:99827
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Atelectasis, Atrophic scars, Multiple joint contractures, Torticollis,... ORPHA:536467
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... ORPHA:26793
Toxic Epidermal Necrolysis
Dysuria, Abnormal vagina morphology, Renal insufficiency, Abnormality of the urethra ORPHA:537
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Cryptorchidism, Renal cyst OMIM:102500
Achondroplasia
Death in infancy, Pulmonary hypoplasia OMIM:100800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... ORPHA:73263
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Recurrent pneumonia, Hypoplastic spleen, Polysplenia OMIM:620642
Fontaine Progeroid Syndrome
Absent nipple, Umbilical hernia, Cryptorchidism, Death in infancy, Neonatal death, Reduced subcut... OMIM:612289
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatitis OMIM:194380
Campomelic Dysplasia
Hydronephrosis, Hypospadias, Sex reversal OMIM:114290
Restrictive Dermopathy 1
Neonatal death, Adrenal hypoplasia, Stillbirth, Limb joint contracture, Flexion contracture, Pate... OMIM:275210
Hermansky-Pudlak Syndrome 1
Renal insufficiency OMIM:203300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Contracture of the distal interp... ORPHA:83617
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Renal cyst, Hypospadias OMIM:616975
Q Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart va... ORPHA:781
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca ORPHA:85448
Vacterl With Hydrocephalus
Femoral hernia, Inguinal hernia, Cryptorchidism, Pulmonary hypoplasia ORPHA:3412
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Uremic Pruritus
Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:94059
Mercury Poisoning
Acute kidney injury ORPHA:330021
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis OMIM:618278
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Absent gallbladder, Neonatal death OMIM:617925
Atelosteogenesis Type Ii
Camptodactyly, Elbow flexion contracture, Pulmonary hypoplasia ORPHA:56304
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Hepatic steatosis, ... OMIM:619321
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Abnormal aortic morphology, Nephroblastoma, Coarc... ORPHA:1052
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Facial palsy, Congenital diaph... OMIM:301022
Cranioectodermal Dysplasia 4
Stage 5 chronic kidney disease OMIM:614378
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Maternal diabetes, Aplasia/Hypoplasia of the lungs ORPHA:2549
Grange Syndrome
Renal artery stenosis, Renovascular hypertension, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ... ORPHA:99889
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Smith-Lemli-Opitz Syndrome
Precocious puberty, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Sm... OMIM:270400
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Renal i... ORPHA:699
Monosomy 9P
Hernia, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261112
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Glycosuria, Skin rash, Polycystic ovaries, Proteinuria, Enlarged polycystic... ORPHA:2298
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Maturity-onset diabetes of the young, Vesicoureteral reflux,... ORPHA:96149
Hermansky-Pudlak Syndrome
Menometrorrhagia, Renal insufficiency ORPHA:79430
Caroli Disease
Cholelithiasis, Polycystic kidney dysplasia ORPHA:53035
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Elevated circulating thyroid-stimulating hormone concentration, Anasarca, Ascites, ... OMIM:618183
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary hypoplasia, Interphalangeal joint contracture of finger, Hepatosplenomegaly, Diastasis ... ORPHA:96334
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Focal Dermal Hypoplasia
Umbilical hernia, Myelomeningocele, Bifid ureter, Horseshoe kidney, Diastasis recti, Congenital d... OMIM:305600
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis OMIM:619471
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Central hypoth... OMIM:620305
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Aortic root aneurysm... ORPHA:90324
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Hereditary Fructose Intolerance
Chronic kidney disease, Renal insufficiency ORPHA:469
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Congenital diaphragmatic hernia, Aplasia/Hypoplas... ORPHA:1308
Generalized Pustular Psoriasis
Renal insufficiency ORPHA:247353
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:619351
Robinow Syndrome
Webbed penis, Small scrotum, Multicystic kidney dysplasia, Decreased serum testosterone concentra... ORPHA:97360
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Otopalatodigital Syndrome Type 2
Omphalocele, Camptodactyly of finger, Pulmonary hypoplasia ORPHA:90652
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Periodontitis OMIM:619269
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, ... OMIM:175200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Ambiguous genitalia, Polycystic kidney dysplasia, Pancreatic fibrosis OMIM:263520
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, Hypospadias ORPHA:3063
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Abnormality of the pulmonary artery, Pulmonary artery sling, Camptodactyly, Asple... ORPHA:261537
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Townes-Brocks Syndrome
Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi... ORPHA:857
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Supernumerary nippl... OMIM:616580
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Decreased testicular size, Bilateral lung agenesis, Primary adrenal insu... ORPHA:2753
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Acute Generalized Exanthematous Pustulosis
Renal insufficiency ORPHA:293173
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Umbilical hernia, Abnormal heart morphology, Abnormalit... ORPHA:798
1P36 Deletion Syndrome
Annular pancreas, Abnormal female external genitalia morphology, Hypogonadism, Aortic arch aneury... ORPHA:1606
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Cryptorchidism, Abnormality of the pulmonary artery, Pulmonary artery sling, Ca... ORPHA:261552
Esophageal Atresia
Bronchitis, Maternal diabetes, Omphalocele, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:1199
Mowat-Wilson Syndrome
Hydrocele testis, Cryptorchidism, Pulmonary artery sling, Camptodactyly, Asplenia, Flexion contra... ORPHA:2152
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Hematuria, Proteinuria, Mitral valve... ORPHA:77261
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Cryptorchi... OMIM:256520
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Increased nuchal translucency, Renal insufficiency, Vesicoureteral ... ORPHA:199
Meier-Gorlin Syndrome 7
Breast aplasia, Meconium peritonitis, Cryptorchidism, Pulmonary hypoplasia OMIM:617063
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Juxtaductal coarctation of the aorta, Absen... ORPHA:3310
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Tarp Syndrome
Cryptorchidism, Extramedullary hematopoiesis, Pulmonary hypoplasia ORPHA:2886
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Mosaic Trisomy 16
Abnormal lung morphology, Maternal diabetes, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1708
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output ORPHA:173
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Renal insufficiency, Cryptorchidism, Thymic hormone decreas... OMIM:216400
Coccidioidomycosis
Abnormality of the male genitalia, Renal insufficiency, Abnormality of the female genitalia, Abno... ORPHA:228123
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Vesic... OMIM:301068
Witteveen-Kolk Syndrome
Branchial fistula, Male urethral meatus stenosis, Microphallus, Congenital diaphragmatic hernia, ... OMIM:613406
Avian Influenza
Acute kidney injury ORPHA:454836
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis, Polycystic ovaries ORPHA:79240
Waldenström Macroglobulinemia
Renal insufficiency ORPHA:33226
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... OMIM:209900
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Dpagt1-Cdg
Anemia, Camptodactyly, Lipodystrophy, Hepatomegaly, Flexion contracture, Pulmonary hypoplasia ORPHA:86309
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Atherosclerosis, Absence of pubertal development, Re... ORPHA:191
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Hemolytic-uremic syndrome ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Decreased testicular size, Multicystic kidney dysplasia, Micropenis OMIM:615287
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Familial Mediterranean Fever
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal amyloidosis, Orchitis OMIM:249100
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplastic female external genitalia, Cryptorchidism, Abnormal aor... ORPHA:1507
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Trisomy 10P
Rectovaginal fistula, Multiple renal cysts, Absent gallbladder, Abnormality of the kidney ORPHA:171929
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Neuroleptic Malignant Syndrome
Acute kidney injury, Aspiration pneumonia, Proteinuria, Myoglobinuria, Urinary incontinence ORPHA:94093
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Breast aplasia, Pyelonephritis, Renal insufficiency OMIM:181270
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... ORPHA:73224
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Nephrocalcinosis, Skeletal muscle atrop... ORPHA:508
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria ORPHA:25
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Renal hypoplasia, Hypoplasia of the thymus, Hypothyroidism,... ORPHA:84064
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Hypertrophic cardiomyo... OMIM:601803
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Roberts Syndrome
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Cryptorchidism ORPHA:3103
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Bifid scrotum, Vesicoureter... OMIM:107480
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Peritonitis, Pancreatitis, Hemoglobinuria, Acute colitis ORPHA:90038
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Overriding aorta, Precocious puber... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency, Bile duct proliferation OMIM:613610
Digeorge Syndrome
Interrupted aortic arch, Unilateral renal agenesis, Cholelithiasis, Right aortic arch with mirror... OMIM:188400
Jacobsen Syndrome
Multicystic kidney dysplasia, Annular pancreas, Cryptorchidism, Hydronephrosis, Coarctation of aorta ORPHA:2308
Multiple Myeloma
Nephropathy, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder ORPHA:29073
Caroli Syndrome
Abnormal ductus choledochus morphology, Polycystic kidney dysplasia, Abnormality of the kidney ORPHA:480520
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Pulmonary hypoplasia OMIM:271520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ambiguous genital... ORPHA:93271
Shigellosis
Urethritis, Acute kidney injury, Hemolytic-uremic syndrome ORPHA:810
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Restrictive Dermopathy
Camptodactyly of finger, Multiple joint contractures, Congenital adrenal hypoplasia, Aplasia/Hypo... ORPHA:1662
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Umbilical hernia, Splenic cyst, Ovarian cyst, Pat... OMIM:618188
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Stage 5 chronic kidney disease, Insulin-resistant diabetes mellitus OMIM:608612
Chand Syndrome
Atelectasis ORPHA:1401
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Intrauterine growth retardation... OMIM:615846
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Behçet Disease
Glomerulopathy, Renal insufficiency, Orchitis ORPHA:117
Cystic Fibrosis
Absent vas deferens, Male infertility, Nephrolithiasis ORPHA:586
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Peripheral pulmonary artery stenosis, Coronary artery stenosi... OMIM:194050
Porphyria Cutanea Tarda
Porphyrinuria, Stage 5 chronic kidney disease, Increased urinary porphobilinogen, Diabetes mellitus ORPHA:101330
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Aplasia of the right hemidiaphragm, Crossed fused renal ectopia, Oligohydramnios, Pate... OMIM:619841
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphology, Inguinal hernia, ... ORPHA:666
Kawasaki Disease
Hepatitis, Sterile pyuria, Skin rash, Cholecystitis, Proteinuria, Arthritis, Myocarditis, Conjunc... ORPHA:2331
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Decreased urine output, Pancr... ORPHA:544482
Cockayne Syndrome B
Micropenis, Proteinuria, Renal insufficiency, Cryptorchidism OMIM:133540
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Renal hypoplasia, Cholelithiasis, Abnormality of the uterus, Ves... ORPHA:567
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroi... OMIM:158350
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Cryptorchidism, Hypoplastic labia ma... OMIM:134780
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Cryptorchidism, Renal cyst, Coarctation of aorta, Micropenis, Polycystic kidney... OMIM:210710
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... ORPHA:3404
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m... ORPHA:91
Hajdu-Cheney Syndrome
Multiple renal cysts, Delayed puberty, Hypospadias ORPHA:955
Sarcoidosis
Nephrocalcinosis, Enlarged lacrimal glands, Parotitis, Renal insufficiency, Enlargement of paroti... ORPHA:797
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Glycogen Storage Disease Xii
Hemoglobinuria, Cholecystitis OMIM:611881
Holzgreve Syndrome
Abnormal mesentery morphology, Aplasia/Hypoplasia of the lungs ORPHA:2167
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Congenital hypothyroidism, S... ORPHA:79500
Peters Plus Syndrome
Multicystic kidney dysplasia, Congenital hypothyroidism, Cryptorchidism, Renal duplication, Renal... ORPHA:709
Genitopatellar Syndrome
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... OMIM:606170
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Cryptorchidism, Death in infancy, Hydronephrosis, Male pseudoh... ORPHA:847
Sotos Syndrome
Renal agenesis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, P... ORPHA:821
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Fraser Syndrome
Abnormal lung lobation, Umbilical hernia, Cryptorchidism, Death in infancy, Omphalocele, Pulmonar... ORPHA:2052
Fraser Syndrome 1
Abnormal thymus morphology, Cryptorchidism, Pulmonary hypoplasia OMIM:219000
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Vaginal stricture, Hematuri... ORPHA:95455
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Retinal hemorrhage, Pancreatic calcification, Cor... ORPHA:51608
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Cholelithiasis, Renal insufficiency, Neoplasm of the gallbladder, Thyro... ORPHA:171
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Priapism ORPHA:466677
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Functional abnormali... ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o... ORPHA:744
African Trypanosomiasis
Abnormality of the menstrual cycle, Renal insufficiency, Abnormality of circulating cortisol leve... ORPHA:3385
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Calcification of the aorta, Delayed puberty, Azoospermia ORPHA:2072
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Tetraamelia Syndrome 2
Bilateral lung agenesis, Absent nipple, Hypoplastic pulmonary veins OMIM:618021
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Renal insufficiency, Anuria ORPHA:99829
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Renal cyst, Hypospadias OMIM:113620
Marburg Hemorrhagic Fever
Renal insufficiency, Orchitis ORPHA:99826
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis, Hypospadias ORPHA:2282
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Hypercalciuria, Pericardial effusio... OMIM:181000
Lysinuric Protein Intolerance
Aminoaciduria, Oroticaciduria, Hyperlysinuria, Stage 5 chronic kidney disease OMIM:222700
Gaucher Disease
Hepatitis, Osteomyelitis, Hematuria, Proteinuria, Osteoarthritis ORPHA:355
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Pulmonary artery dilatation, Hyperechogenic kidneys, Medullary ne... OMIM:619534
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Hypospad... OMIM:308205
Cystic Fibrosis
Hypercalciuria, Male infertility OMIM:219700
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Infracardiac total ... ORPHA:99125
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Listeriosis
Acute kidney injury, Pyelonephritis ORPHA:533
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99413
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99226
Turner Syndrome
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:881
Ellis Van Creveld Syndrome
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs, Cryptorchidism ORPHA:289
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryptorchidism, Polycy... OMIM:268300
Costello Syndrome
Renal insufficiency OMIM:218040
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Coarctation of aorta, Hypospadias, Male infertility OMIM:163950
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Blau Syndrome
Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma, Aortic aneurysm, Ab... ORPHA:90340
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Eisenmenger Syndrome
Aortopulmonary window, Renal insufficiency ORPHA:97214
Acute Liver Failure
Adrenal insufficiency, Acute kidney injury ORPHA:90062
Wilms Tumor 1
Nephroblastoma OMIM:194070
Leptospirosis
Acute kidney injury, Cellular urinary casts ORPHA:509
Zttk Syndrome
Unilateral lung agenesis, Absent gallbladder, Patent ductus arteriosus, Flexion contracture OMIM:617140
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Aplasia of the sweat glands ORPHA:642
Microphthalmia, Syndromic 1
Camptodactyly, Joint contracture of the hand, Cryptorchidism, Pulmonary hypoplasia OMIM:309800
Nephroblastoma
Hematuria, Nephroblastoma ORPHA:654
Desmoplastic Small Round Cell Tumor
Ascites, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovarian neoplasm, Neo... ORPHA:83469
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Emphysema, Secretory IgA deficiency, Absent gallbladder, Unilate... ORPHA:500150
Mesothelioma, Malignant
OMIM:156240

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wt1.

No publications found that use IMPC mice or data for Wt1.

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MGI Allele Allele Type Produced
Wt1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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