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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
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... ORPHA:347
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Meacham Syndrome
Accessory spleen, Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus,... OMIM:608978
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... ORPHA:3097
Wagr Syndrome
Ambiguous genitalia, Displacement of the urethral meatus, Cryptorchidism ORPHA:893
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm ORPHA:83469
Wilms Tumor 1
Nephroblastoma OMIM:194070
Nephroblastoma
Hematuria, Nephroblastoma ORPHA:654
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
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, 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, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Hypothyroid... OMIM:617575
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... ORPHA:347
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Alport Syndrome
Thickening of glomerular capillary wall, Mesangial hypercellularity, Nephritis, Tubulointerstitia... ORPHA:63
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
46,Xy Sex Reversal 9
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:615524
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... ORPHA:85450
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Horseshoe kidney, Increase... OMIM:613630
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Lessel-Kubisch Syndrome
Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... ORPHA:563609
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains OMIM:619858
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen... ORPHA:2232
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia, Death in childhood, Neonatal death, Increased variability... OMIM:614096
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
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, Oligomenorrhea, Amenorrhea OMIM:184700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Hepatic cysts OMIM:618999
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Leopard Syndrome 1
Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Delayed menarche, ... OMIM:151100
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnormality of the diaphragm,... OMIM:601163
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Nephrotic syndrome, Focal s... OMIM:607426
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma OMIM:609180
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Male pseudohermaphroditis... OMIM:400044
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Senior-Loken Syndrome
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrono... ORPHA:3156
Mpdu1-Cdg
Eczema, Renal cortical cysts ORPHA:79323
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Nephronophthisis
Renal insufficiency ORPHA:655
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Trisomy X
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia ORPHA:3375
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... OMIM:617729
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... ORPHA:139466
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Multiple renal cysts, Vesicoureteral ... ORPHA:1166
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Thyroiditis OMIM:619375
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells OMIM:256150
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... ORPHA:567546
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art... OMIM:253310
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Genitopalatocardiac Syndrome
Right aortic arch, Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, ... OMIM:614034
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... ORPHA:1120
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Flexion contracture, Abnormal lung ... OMIM:263210
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Renal salt wasting OMIM:613743
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis OMIM:615996
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthritis... OMIM:615559
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... OMIM:616531
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of pulmonary vessels, ... OMIM:601186
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... OMIM:240300
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Elevated circulating thyroid-stimulat... OMIM:242900
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Type II diabetes mellitus, Displacement... ORPHA:2377
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Familial Reactive Perforating Collagenosis
Diabetes mellitus, Chronic kidney disease ORPHA:79147
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic... OMIM:619644
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hy... OMIM:611812
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Joubert Syndrome 20
Renal cyst OMIM:614970
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Myopathy, Hypoplastic spleen, Anemia OMIM:185070
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Meacham Syndrome
Accessory spleen, Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus,... OMIM:608978
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypopla... OMIM:273395
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger ORPHA:2631
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:29072
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
C Syndrome
Cryptorchidism, Renal cortical cysts OMIM:211750
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Umbilical h... ORPHA:2143
Right Atrial Isomerism
Inguinal hernia, Asplenia, Abnormal lung lobation, Total anomalous pulmonary venous return, Polys... OMIM:208530
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Tonne-Kalscheuer Syndrome
Hypospadias, Congenital diaphragmatic hernia, Abnormal heart morphology, Pulmonary hypoplasia, Mi... OMIM:300978
Spermatogenic Failure 17
Male infertility OMIM:617214
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia OMIM:605231
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... ORPHA:97362
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Decreased glomerular filt... OMIM:232200
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arterios... OMIM:313850
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... ORPHA:3097
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Acrocallosal Syndrome
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation... ORPHA:250999
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Minimal change glomerulonephritis, Stage 5 chroni... ORPHA:1830
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma OMIM:304790
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Gracile Bone Dysplasia
Asplenia, Death in infancy, Hypoplastic spleen OMIM:602361
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas... OMIM:146255
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Torticollis, Truncus arteriosus, Ventricular s... OMIM:609029
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Acute kidney ... ORPHA:275555
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria OMIM:603592
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni... OMIM:102700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospad... ORPHA:887
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Supravalvular... OMIM:219100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Compensated hypothyroidism, Proteinuria ORPHA:247691
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Trisomy 1Q
Omphalocele, Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Po... ORPHA:261344
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Recurrent aspirat... ORPHA:397715
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... ORPHA:2137
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Hypospadias, Abnormal pericardium morphology, Ventricular septal defe... ORPHA:1335
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammation of the large... OMIM:232220
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Irregular menstruation, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ... ORPHA:79259
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Aplasia... ORPHA:2063
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... ORPHA:261265
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... ORPHA:411536
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis ORPHA:99931
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Ureteral agene... ORPHA:2437
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... OMIM:617303
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical... OMIM:614608
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Facial d... ORPHA:171430
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Primary hyperparathyroidism, Hypercalciuria, Nephrocalcin... ORPHA:99879
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism ORPHA:1192
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra... ORPHA:70588
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
15Q24 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Myelomeningocele, Abnormal heart morphology, Microp... ORPHA:94065
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Schisis Association
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly ORPHA:63862
Hepatic Veno-Occlusive Disease
Renal insufficiency ORPHA:890
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul... OMIM:232240
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... OMIM:616866
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atherosclerosis, Acute kidney i... ORPHA:650
Beckwith-Wiedemann Syndrome
Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, N... OMIM:130650
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... ORPHA:2302
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Maternal diabetes... ORPHA:3027
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... ORPHA:284180
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Pancreatic islet-cell hyperplasia,... OMIM:276700
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningoce... ORPHA:2311
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Myh9-Related Disease
Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis ORPHA:182050
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Death in infancy, Adrenal... OMIM:613177
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Aplasia/Hypoplasia of th... ORPHA:1834
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Truncus arteriosu... ORPHA:96170
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco... OMIM:613404
Nephronophthisis 19
Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosis, Nephronopht... OMIM:616217
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Axial Osteomalacia
Renal cyst OMIM:109130
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia ORPHA:2123
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, P... ORPHA:60041
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Hypoth... ORPHA:85321
Malaria
Acute kidney injury ORPHA:673
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Mosaic Trisomy 9
Camptodactyly of finger, Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:99776
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Adrenal insufficiency OMIM:618238
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis... ORPHA:36234
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency ORPHA:510
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
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
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus, Camptodactyly OMIM:619123
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... ORPHA:1988
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... OMIM:617641
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis... ORPHA:251071
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Arthrogryposis multiplex congenita, Stillbirth, Pulmonary hypoplasia OMIM:236500
Intellectual Disability-Strabismus Syndrome
Hypospadias, Polyhydramnios, Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles ... ORPHA:363528
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Cryptorchidism... ORPHA:95706
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Thymoma
Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... ORPHA:369929
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts ORPHA:400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia OMIM:256050
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency ORPHA:28
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis OMIM:615989
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pol... OMIM:616777
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Renal cortical microcysts OMIM:614866
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Aminoaciduria, Adrenal insufficiency, Lacticaciduria OMIM:619386
Pmm2-Cdg
Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Gapo Syndrome
Hypoplastic nipples, Breast hypoplasia, Tubulointerstitial fibrosis OMIM:230740
Focal Dermal Hypoplasia
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Telangiect... ORPHA:2092
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Congenital diaphragmatic hernia, Anencephaly, Hydrops fetalis, Pulmonary hypoplas... OMIM:616546
Rhyns Syndrome
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... OMIM:602152
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Pulmonary artery dilatation, Diastasis recti, Asplenia, Pulmonary artery stenosis, P... OMIM:265380
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ... ORPHA:536
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Melas
Hypoparathyroidism, Diabetes mellitus, Proteinuria, Hypogonadotropic hypogonadism, Focal segmenta... ORPHA:550
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Splenomegaly, Patent ductus arterios... OMIM:608149
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... ORPHA:335
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... ORPHA:2902
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... ORPHA:91138
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Hydroneph... OMIM:222300
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Pagod Syndrome
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Sudden cardiac death, Spina bifida, Sit... ORPHA:991
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Death in infancy OMIM:300219
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio... ORPHA:90791
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... ORPHA:90291
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Trichohepatoenteric Syndrome 1
Galactosuria, Hypospadias, Renal cortical microcysts OMIM:222470
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Calf muscle hyp... ORPHA:280356
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Ventricular septal defect, Proteinuria, Congenital diaphr... OMIM:222448
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, ... OMIM:208050
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morph... ORPHA:261197
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus OMIM:617746
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury ORPHA:411543
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Mesenteric cyst, Recurrent respiratory infections, Cryptorchidism, Patent ductus art... OMIM:618316
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... ORPHA:2075
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Congenital diaphragmatic ... ORPHA:2059
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Pulmonary hypoplasia OMIM:241800
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Patent ductus arteriosus ORPHA:210122
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Bronchiectasis, Chronic muco... OMIM:615816
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... ORPHA:2255
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Congenital diaphragmatic hernia OMIM:619648
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased... OMIM:219080
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Abnormality of circul... ORPHA:320
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Meckel Syndrome, Type 1
Omphalocele, Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate,... OMIM:249000
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia, Congenital diaphragmatic hernia OMIM:606164
Alg3-Cdg
Lipodystrophy, Abnormality of the endocrine system, Macroglossia, Pulmonary hypoplasia, Arthrogry... ORPHA:79321
Bardet-Biedl Syndrome 9
Renal insufficiency, Irregular menstruation OMIM:615986
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Diamond-Blackfan Anemia 10
Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent ductus ... OMIM:613309
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia OMIM:602579
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... ORPHA:168558
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Hypoplastic aortic arch, Dilatation of th... ORPHA:314588
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... ORPHA:77297
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Pulmonary hypoplasia ORPHA:1486
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Hypothyroidism ORPHA:445038
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Pulmonary hypoplasia, Supernumerary nipple, Congenital diaphragmatic hernia OMIM:612530
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... ORPHA:470
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... ORPHA:289548
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Polyhydramnios, Congenital diaph... OMIM:614080
Transketolase Deficiency
Secondary amenorrhea, Increased level of ribose in urine, Renal cyst, Type I diabetes mellitus ORPHA:488618
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Generalized amyotrophy, Pul... ORPHA:994
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Oliguria, Acute tubul... ORPHA:340
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... ORPHA:36412
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... OMIM:610921
Muckle-Wells Syndrome
Renal insufficiency, Renal amyloidosis OMIM:191900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency ORPHA:289916
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:99880
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Anomalous pulmonar... OMIM:619657
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Coarctat... OMIM:617159
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyotype OMIM:264300
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Lowry-Maclean Syndrome
Atrioventricular canal defect, Hypospadias, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Pneumothorax, Abnormal pulmo... ORPHA:2257
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary... ORPHA:358
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Hype... OMIM:202110
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst ORPHA:480536
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ... ORPHA:79083
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Repeated pneumothoraces,... OMIM:617602
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:143
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... ORPHA:443811
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pulm... ORPHA:261494
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Miscarriage, Hydrocele testis, Increased serum testosterone level, Congenital ad... ORPHA:96181
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Macroglossia, Hypoplasia of the thymus, Pulmonary hypoplasia, Increased... OMIM:617022
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplen... OMIM:200995
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona... OMIM:614294
Mody
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... ORPHA:552
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Aplasia of the bla... OMIM:612284
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Amin... ORPHA:213
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Hepatic stea... ORPHA:79084
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Neonatal ... OMIM:608013
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate va... ORPHA:2237
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Babesiosis
Renal insufficiency ORPHA:108
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:618454
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Rudiger Syndrome
Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Hyperprolinemia Type 2
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Multiple joint contractures, Hypospadias, Inguinal hernia, Congenital ... OMIM:265000
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Enla... OMIM:612651
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Bilateral trilobed lung, Asplenia, Patent ductus arteriosus, Biliary a... OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphra... ORPHA:3380
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:958
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Vesicoureteral reflux ORPHA:1552
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Scimitar Syndrome
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Abnormal lung morphology, Pa... ORPHA:185
Hand-Foot-Genital Syndrome
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... OMIM:140000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys OMIM:613845
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Chronic kidney disease, Oligozoosper... ORPHA:330015
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... ORPHA:223
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Asplenia ORPHA:221120
Alstrom Syndrome
Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... OMIM:203800
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i... ORPHA:90068
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... ORPHA:1780
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... OMIM:618651
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... ORPHA:1031
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Odontochondrodysplasia 1
Death in infancy, Recurrent respiratory infections, Pulmonary hypoplasia, Dentinogenesis imperfecta OMIM:184260
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveola... OMIM:265120
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Thyroid dysgenesis, Hydroureter, Decreased circulatin... OMIM:146510
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... OMIM:607598
Opitz Gbbb Syndrome
Omphalocele, Atrial septal defect, Inguinal hernia, Hypospadias, Ventricular septal defect, Conge... ORPHA:2745
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Cryptorchidism, Congenital contracture, Pulmonary hypopla... OMIM:248700
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Nephropathy, Renal insufficiency OMIM:247410
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Cryptorchidism, Pulmonary hypoplasia OMIM:224410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Feingold Syndrome 1
Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia, Annular pancreas OMIM:164280
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Chronic kidney disease, Renal amyloidosis ORPHA:314652
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car... ORPHA:2869
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Clitoral hy... OMIM:214110
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria ORPHA:324525
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency ORPHA:79312
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Coarctation of aorta, Vesicoureteral re... ORPHA:96147
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder flexion contrac... OMIM:620369
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous r... OMIM:270100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria ORPHA:330001
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... OMIM:300519
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Atelectasis, Patent ductus arteriosus, ... OMIM:269860
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Ectopic kidney ORPHA:268249
Pseudo-Torch Syndrome 3
Lymphadenitis, Acute kidney injury, Proteinuria OMIM:618886
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Bifid uterus, Complete ... OMIM:236680
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Severe Acute Respiratory Syndrome
Diabetes mellitus, Acute kidney injury ORPHA:140896
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Hydrone... ORPHA:912
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... OMIM:257300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypothyroidism ORPHA:1563
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Flexion contracture, Pulmonary hypoplasia OMIM:312150
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:1647
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect... OMIM:616364
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased circulating cortisol lev... OMIM:615830
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber... ORPHA:2348
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Splenomegaly, Anemia ORPHA:1046
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Liddle Syndrome 1
Renal insufficiency, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Polyhyd... OMIM:618846
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Pulmonary artery stenosis, Horseshoe kidney,... ORPHA:140952
2Q37 Microdeletion Syndrome
Umbilical hernia, Multicystic kidney dysplasia, Congenital diaphragmatic hernia ORPHA:1001
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... OMIM:245600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Flexion contracture, Pulmonary hypoplasia OMIM:616897
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Ureteral hypoplasi... ORPHA:79328
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... OMIM:227650
Perlman Syndrome
Renal hamartoma, Congenital diaphragmatic hernia, Polyhydramnios, Edema, Hypoplasia of the abdomi... OMIM:267000
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Hematuria, Renal artery stenosis, I... ORPHA:71273
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Uric acid nephro... OMIM:300661
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:373
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency ORPHA:27
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Glomerulonephritis, Pneumonia, Orchitis, Myocardit... ORPHA:1304
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Renal insufficiency, Interrupted aortic arch, Renal cyst OMIM:617478
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Oliguria ORPHA:220393
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Renal cyst, Nephrot... OMIM:212065
Joubert Syndrome 2
Hypoplastic male external genitalia, Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Boomerang Dysplasia
Omphalocele, Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypop... ORPHA:1263
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Pulmonary hypoplasia OMIM:253290
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditis, Hematuria, ... ORPHA:549
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis OMIM:611209
Holoprosencephaly
Encephalocele, Omphalocele, Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnormal... ORPHA:2162
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... ORPHA:90790
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Cornelia De Lange Syndrome 1
Inguinal hernia, Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Congenital ... OMIM:122470
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Hypospadias, Mitral stenosis, Mitral atresia... ORPHA:1596
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Juncti... OMIM:309801
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, Chronic kidney disease, ... OMIM:208500
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Peripheral arterial stenosis... OMIM:259900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Ogden Syndrome
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Maternal diabetes, Cryptorchidis... OMIM:300855
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria OMIM:617671
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Pulmonary hypoplasia OMIM:617895
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Iniencephaly
Encephalocele, Omphalocele, Spina bifida, Polyhydramnios, Congenital diaphragmatic hernia, Myelom... ORPHA:63259
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... OMIM:610644
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear... ORPHA:468678
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusion... ORPHA:1272
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula ORPHA:2728
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Flexion contracture, Miscarriage, Pulmonary hypoplasia ORPHA:1865
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp... OMIM:191100
Cystinosis, Nephropathic
Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Diabetes mellitu... OMIM:219800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Limb Body Wall Complex
Encephalocele, Ventral hernia, Ventricular septal defect, Diastasis recti, Spina bifida, Congenit... ORPHA:2369
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... ORPHA:3261
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Joubert Syndrome 14
Renal cyst OMIM:614424
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology ORPHA:1548
Fryns Syndrome
Omphalocele, Ectopic pancreatic tissue, Cryptorchidism, Aplasia of the left hemidiaphragm, Stillb... OMIM:229850
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Orchitis, Pustule, Hem... ORPHA:761
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Lymphedema, Pericardial effusion, Patent ductus arteriosus, ... OMIM:239850
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst, Coarctation o... OMIM:617260
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Increased sar... ORPHA:264580
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Proteinuria, Insulin-resistant d... ORPHA:79086
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypopl... ORPHA:2990
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
7Q11.23 Microduplication Syndrome
Inguinal hernia, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Congenital di... ORPHA:96121
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Polyhy... ORPHA:818
Beckwith-Wiedemann Syndrome
Omphalocele, Ureteral duplication, Inguinal hernia, Diastasis recti, Polyhydramnios, Cardiomegaly... ORPHA:116
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Fabry Disease
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria OMIM:301500
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:620233
Joubert Syndrome 6
Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Lamellar Ichthyosis
Renal insufficiency ORPHA:313
Pyomyositis
Renal insufficiency, Testicular teratoma ORPHA:764
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... ORPHA:805
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Interrupted ao... ORPHA:391641
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma ORPHA:220460
Cardiac Valvular Dysplasia 1
Edema, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tri... OMIM:212093
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Cryptorchidism, Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia of the ... OMIM:620025
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Tetrasomy 5P
Pericallosal lipoma, Recurrent respiratory infections, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:3309
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Small thenar eminence, Pulmonary hypoplasia, Camptodact... OMIM:619148
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus arteriosus, Ane... OMIM:617053
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Glycogen Storage Disease Vii
Hematuria, Gout, Exercise-induced myoglobinuria OMIM:232800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Flexion contracture, Stillbirth, Pulmonary hypoplasia, Umbilical hernia, Thyr... OMIM:308050
Sickle Cell Disease
Hematuria, Cholelithiasis, Renal insufficiency, Priapism OMIM:603903
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Ohdo Syndrome
Cryptorchidism, Proteinuria OMIM:249620
Boutonneuse Fever
Renal insufficiency ORPHA:83313
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian c... OMIM:246200
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Glomerulonephritis, Pneumoni... ORPHA:2968
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... ORPHA:342
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, Decreased testi... ORPHA:261349
Teebi Hypertelorism Syndrome 1
Omphalocele, Pulmonary hypoplasia, Hydrocele testis OMIM:145420
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hypothyroidism, Mild proteinuria OMIM:619147
Congenital Myopathy 17
Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmonary hypoplasia, Diaphragmatic... OMIM:618975
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Thyroiditis ORPHA:139402
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Elbow flexion contracture, Abnormality of the ureter, Pulmonary ... OMIM:200980
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in upper limbs, Decreased adiponectin level, Decreased ser... ORPHA:435660
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Abnormal renal tubule morphology ORPHA:440713
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst OMIM:616300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Calciphylaxis
Arterial calcification, Stage 5 chronic kidney disease, Secondary hyperparathyroidism ORPHA:280062
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme... ORPHA:555874
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Elevated circulating thyroid-stimulating hormone concentrati... OMIM:610199
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Hematu... ORPHA:77259
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Greenberg Dysplasia
Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Panc... OMIM:215140
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas... ORPHA:731
Kaposiform Lymphangiomatosis
Metrorrhagia, Multiple renal cysts, Enlarged kidney, Pancreatic cysts ORPHA:464329
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Scrub Typhus
Renal insufficiency ORPHA:83317
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Decreased circul... OMIM:613677
Joubert Syndrome With Hepatic Defect
Abnormality of the hypothalamus-pituitary axis, Nephropathy, Multicystic kidney dysplasia, Renal ... ORPHA:1454
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Diabetes insipidus, Hydronephrosis ORPHA:35687
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Abnormality of the hypothalamus-pituitary axis ORPHA:220497
Farber Disease
Diffuse reticular or finely nodular infiltrations, Atelectasis, Recurrent upper respiratory tract... ORPHA:333
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality... ORPHA:369837
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria OMIM:610965
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pu... ORPHA:199241
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Chronic kidney disease, Calcification of the aorta, Delayed puberty OMIM:208060
Poland Syndrome
Encephalocele, Atrial septal defect, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, ... ORPHA:2911
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Breast hyp... ORPHA:464306
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Congenital diaphr... ORPHA:280
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Hypogonadism, Muscular dystrophy, Pulmonary hypopla... ORPHA:2671
Meningococcal Meningitis
Renal insufficiency ORPHA:33475
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulmonary hypoplasia, Lymphopenia OMIM:619708
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia, Unilateral breast hypoplasia, ... OMIM:304110
Snakebite Envenomation
Hypopituitarism, Acute kidney injury ORPHA:449285
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Inguinal hernia, Congenital diaphragmatic hernia, Bradycardia, Pulmo... OMIM:614437
Refsum Disease
Renal insufficiency ORPHA:773
Truncus Arteriosus
Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery ... ORPHA:3384
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Limb hypertonia OMIM:620306
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts ORPHA:1190
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Congenital diaphragmatic hernia, A... ORPHA:2322
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... OMIM:265300
Wolcott-Rallison Syndrome
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Centra... ORPHA:1667
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... ORPHA:31826
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
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Renal tubular dysfunctio... ORPHA:562
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Raine Syndrome
Death in infancy, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita, Ename... OMIM:259775
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Spondyloenchondrodysplasia
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... ORPHA:1855
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Pneumothorax, Bronchiectasis ORPHA:411703
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski... ORPHA:900
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Inguinal hernia ORPHA:932
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Decrease... OMIM:269700
Cockayne Syndrome Type 1
Cryptorchidism, Renal insufficiency, Proteinuria, Male hypogonadism ORPHA:90321
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira... ORPHA:1018
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Mild proteinuria OMIM:619685
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... ORPHA:495875
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... OMIM:608594
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Abnormal dental enamel morpholog... ORPHA:2556
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Splenomegaly,... ORPHA:79240
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Atrial septa... OMIM:312870
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis... OMIM:208150
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Acute Adrenal Insufficiency
Renal insufficiency, Decreased female libido, Decreased circulating cortisol level, Adrenal hypop... ORPHA:95409
Stuve-Wiedemann Syndrome 1
Death in infancy, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion ... OMIM:601559
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Chylothorax, ... ORPHA:538
Stevens-Johnson Syndrome
Abnormality of the urethra, Dyspareunia, Renal insufficiency, Dysuria ORPHA:36426
Relapsing Fever
Hematuria, Abnormality of the urinary system, Acute kidney injury ORPHA:91547
Alveolar Echinococcosis
Pancreatic cysts, Renal cyst, Abnormal adrenal morphology, Abnormal bladder morphology, Hepatic c... ORPHA:284
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal ... OMIM:235510
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Hyperparathyroidism OMIM:620366
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t... ORPHA:91500
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... ORPHA:79276
Giant Cell Arteritis
Renal insufficiency, Hematuria, Aortic dissection, Diabetes insipidus, Abdominal aortic aneurysm ORPHA:397
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia OMIM:619879
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Wagro Syndrome
Nephroblastoma, Proteinuria, Decreased testicular size OMIM:612469
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria OMIM:251000
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Femoral hernia ORPHA:93298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Abnormal atrioventricular conduction, Supraventricular arrhythmi... ORPHA:280365
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chordee, Urogeni... OMIM:618820
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Unilateral renal agenesis, Patent duc... OMIM:154400
Porphyria Variegata
Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ina... ORPHA:79473
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas OMIM:616975
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Tetraploidy
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus ORPHA:3305
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Femoral hernia ORPHA:93299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria OMIM:201475
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism, Arterial stenosis ORPHA:1556
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Cryptorchidism, Proximal r... ORPHA:534
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Wilson Disease
Hyperphosphaturia, Proteinuria, Osteoarthritis, Atypical or prolonged hepatitis, Nephrolithiasis,... OMIM:277900
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Multiple joint contractures, Camptodactyly of finger, Abnormal p... ORPHA:2570
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Insulin-resistant diabetes mellitus, Renal insufficiency, Reduced pancr... OMIM:226980
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Inguinal hernia, Hydroureter, Hypospadias, Ventricular septal d... OMIM:135900
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Multiple joint contractures, Agenesis of pineal gland, Cryptorchidism, Flexion c... ORPHA:536471
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventri... OMIM:157800
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Perinea... ORPHA:2538
Congenital Enterovirus Infection
Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, C... ORPHA:292
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Patent ductus arteriosus, Re... ORPHA:980
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Bile duct proliferation, Renal cyst OMIM:261515
Castleman Disease
Hematuria, Renal insufficiency, Ureteral obstruction ORPHA:160
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... OMIM:208000
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Prolonged QT interv... ORPHA:26793
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... ORPHA:96149
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... ORPHA:1359
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... OMIM:620305
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Achondroplasia
Death in infancy, Pulmonary hypoplasia OMIM:100800
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Atrophic scars, P... ORPHA:536467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Abnormality of the thyroid gland, Enlarged lacrim... ORPHA:449432
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatitis OMIM:194380
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Renovascular hypertension, Carotid artery stenosis OMIM:602531
Campomelic Dysplasia
Sex reversal, Hypospadias, Hydronephrosis OMIM:114290
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Aor... OMIM:616580
Uremic Pruritus
Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:94059
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growth retardation, ... OMIM:619321
Restrictive Dermopathy 1
Limb joint contracture, Adrenal hypoplasia, Patent ductus arteriosus, Flexion contracture, Stillb... OMIM:275210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Contracture of the ... ORPHA:83617
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury OMIM:235400
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Bifid scrotum, Small scrotum, H... OMIM:270400
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Absent nipple, Hypoplasia of the abdominal... OMIM:612289
Mullegama-Klein-Martinez Syndrome
Facial palsy, Hypoplastic left heart, Apical muscular ventricular septal defect, Congenital diaph... OMIM:301022
Agel Amyloidosis
Keratoconjunctivitis sicca, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Absent gallbladder, Pulmonary hypoplasia OMIM:617925
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ... ORPHA:857
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Toxic Epidermal Necrolysis
Abnormality of the urethra, Renal insufficiency, Abnormal vagina morphology, Dysuria ORPHA:537
Hermansky-Pudlak Syndrome 1
Renal insufficiency OMIM:203300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External... ORPHA:97360
Congenital Tracheomalacia
Pneumonia, Patent ductus arteriosus, Pneumothorax, Partial anomalous pulmonary venous return, Bro... ORPHA:95430
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Camptodactyly of finger ORPHA:2635
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Mercury Poisoning
Acute kidney injury ORPHA:330021
Atelosteogenesis Type Ii
Elbow flexion contracture, Pulmonary hypoplasia, Camptodactyly ORPHA:56304
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Micropenis, Proteinuria, Pancreatitis OMIM:619471
Vacterl With Hydrocephalus
Cryptorchidism, Inguinal hernia, Femoral hernia, Pulmonary hypoplasia ORPHA:3412
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood OMIM:618278
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Coarctation of aorta, Abnormal aortic morphology,... ORPHA:1052
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Impote... ORPHA:447
Cranioectodermal Dysplasia 4
Stage 5 chronic kidney disease OMIM:614378
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Delayed puberty,... ORPHA:324
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Focal Dermal Hypoplasia
Omphalocele, Ureteral duplication, Inguinal hernia, Diastasis recti, Congenital diaphragmatic her... OMIM:305600
Insulin-Resistance Syndrome Type B
Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis, Polycystic ovarie... ORPHA:2298
Monosomy 9P
Cryptorchidism, Hernia, Congenital diaphragmatic hernia ORPHA:261112
C Syndrome
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Polyhydramnios, Aplas... ORPHA:1308
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... OMIM:175200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Miscarriage, Diastasis recti, Interphalangeal joint contracture of fin... ORPHA:96334
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease ORPHA:469
Generalized Pustular Psoriasis
Renal insufficiency ORPHA:247353
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... ORPHA:699
Wagr Syndrome
Ambiguous genitalia, Displacement of the urethral meatus, Cryptorchidism ORPHA:893
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Peritonitis, Pulmonary hypoplasia OMIM:619351
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Otopalatodigital Syndrome Type 2
Omphalocele, Pulmonary hypoplasia, Camptodactyly of finger ORPHA:90652
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram OMIM:306400
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Cryptorchidism ORPHA:1027
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Zygomycosis
Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, ... ORPHA:73263
Hermansky-Pudlak Syndrome
Renal insufficiency, Menometrorrhagia ORPHA:79430
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated circulating thyroid-stim... OMIM:618183
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Roberts Syndrome
Cryptorchidism, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia ORPHA:3103
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Pancreatic fibrosis, Polycystic kidney dysplasia OMIM:263520
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Abnormal aorti... ORPHA:1507
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Asplenia, Cryptorchidism, Flexion contracture, Decreased circulating anti... ORPHA:261537
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland ORPHA:3429
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnormal heart... ORPHA:798
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Patent ductus arteriosus, Aortopulmonary window, Pulmonary hypo... ORPHA:99050
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Acute Generalized Exanthematous Pustulosis
Renal insufficiency ORPHA:293173
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Caroli Disease
Cholelithiasis, Polycystic kidney dysplasia ORPHA:53035
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism... ORPHA:1606
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Proteinuria, Abnormal heart valve m... ORPHA:77261
Meier-Gorlin Syndrome 7
Cryptorchidism, Breast aplasia, Pulmonary hypoplasia, Meconium peritonitis OMIM:617063
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Cryptorchidism, H... OMIM:134780
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Asplenia, Cryptorchidism, Patent ductus arteriosus, Flexion contracture, ... ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Asplenia, Cryptorchidism, Patent ductus arteriosus, Flexion contracture, ... ORPHA:2152
Townes-Brocks Syndrome 1
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... OMIM:107480
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Juxtaductal coarctation ... ORPHA:3310
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Bronchitis, Maternal diabetes, Pulmonary hypoplasia ORPHA:1199
Neu-Laxova Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, scaly skin,... OMIM:256520
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti... ORPHA:2331
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... ORPHA:93271
Cholera
Decreased urine output, Abnormality of renal excretion, Acute kidney injury ORPHA:173
Cornelia De Lange Syndrome
Atrial septal defect, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hyp... ORPHA:199
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Tarp Syndrome
Cryptorchidism, Extramedullary hematopoiesis, Pulmonary hypoplasia ORPHA:2886
Jacobsen Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Coarctation of aorta, Annular pancreas, Hydronephrosis ORPHA:2308
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Mosaic Trisomy 16
Patent ductus arteriosus, Abnormal lung morphology, Pulmonary hypoplasia, Maternal diabetes ORPHA:1708
Familial Mediterranean Fever
Orchitis, Nephrotic syndrome, Renal amyloidosis, Stage 5 chronic kidney disease OMIM:249100
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria ORPHA:79282
Colchicine Poisoning
Renal insufficiency, Oliguria ORPHA:31824
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Monorchism, Camptodactyly of finger, Primary adrenal insufficie... ORPHA:2753
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Thymic hormone decrease... OMIM:216400
Witteveen-Kolk Syndrome
Branchial fistula, Inguinal hernia, Hypospadias, Polyhydramnios, Phimosis, Congenital diaphragmat... OMIM:613406
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, EMG: myopathic abnormalities, Maternal diabetes ORPHA:2549
Waldenström Macroglobulinemia
Renal insufficiency ORPHA:33226
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... ORPHA:73224
Trisomy 10P
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula ORPHA:171929
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Aspiration pneumonia, Myoglobinuria, Acute kidney injury ORPHA:94093
Avian Influenza
Acute kidney injury ORPHA:454836
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased circulating parat... OMIM:188400
Leprechaunism
Hepatomegaly, Skeletal muscle atrophy, Clitoral hypertrophy, Enlarged ovaries, Overgrowth of exte... ORPHA:508
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease ORPHA:25
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia OMIM:181270
Dpagt1-Cdg
Hepatomegaly, Lipodystrophy, Flexion contracture, Pulmonary hypoplasia, Camptodactyly, Anemia ORPHA:86309
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Abnormality of the endocrine system, Abnormality ... ORPHA:228123
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:93274
Syndromic Diarrhea
Renal hypoplasia, Hypoplasia of the thymus, Polycystic kidney dysplasia, Hypothyroidism, Peripher... ORPHA:84064
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Vagin... OMIM:209900
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re... ORPHA:2052
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Peritonitis, Hemoglobinuria, Acute kidney injury, Pancreatitis, Acute colitis ORPHA:90038
Multiple Myeloma
Nephropathy, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder ORPHA:29073
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Pulmonary hypoplasia OMIM:271520
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Cranioectodermal Dysplasia 2
Renal insufficiency, Bile duct proliferation, Renal cyst OMIM:613610
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Caroli Syndrome
Abnormal ductus choledochus morphology, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Shigellosis
Hemolytic-uremic syndrome, Acute kidney injury, Urethritis ORPHA:810
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Edema of the dorsum of feet, Hypospadias, Ventricular septal defect... OMIM:601803
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria, Cryptorchidism OMIM:133540
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Coarctation of aorta, Polycystic kidney dysplasia, ... OMIM:210710
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Polyhydramnios, Patent ductus arteriosus, Ovarian... OMIM:618188
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Renal hypoplasia, Abnormal aort... ORPHA:567
Behçet Disease
Orchitis, Glomerulopathy, Renal insufficiency ORPHA:117
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Diabetes mellitus, Abnormal renal morpho... OMIM:194050
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease OMIM:608612
Chilton-Okur-Chung Neurodevelopmental Syndrome
Crossed fused renal ectopia, Hypospadias, Epistaxis, Polyhydramnios, Aplasia of the right hemidia... OMIM:619841
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... OMIM:606170
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Infection-Related Hemolytic Uremic Syndrome
Anuria, Pneumonia, Myocarditis, Pancreatitis, Oliguria, Septic arthritis, Acute kidney injury, Ne... ORPHA:544482
Osteogenesis Imperfecta
Inguinal hernia, Abnormal dental enamel morphology, Flexion contracture, Pulmonary hypoplasia, Um... ORPHA:666
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Glycogen Storage Disease Xii
Hemoglobinuria, Cholecystitis OMIM:611881
Chand Syndrome
Atelectasis ORPHA:1401
Porphyria Cutanea Tarda
Increased urinary porphobilinogen, Diabetes mellitus, Stage 5 chronic kidney disease, Porphyrinuria ORPHA:101330
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias, Delayed puberty ORPHA:955
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Lon... ORPHA:744
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Polyhydramnios, Sirenomel... ORPHA:79500
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology... ORPHA:797
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Fraser Syndrome 1
Cryptorchidism, Abnormal thymus morphology, Pulmonary hypoplasia OMIM:219000
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... OMIM:619488
Generalized Arterial Calcification Of Infancy
Adrenal calcification, Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Nephrocalcinosis, Pe... ORPHA:51608
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Otit... ORPHA:64
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Ectopic thymus tissue OMIM:113620
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:1860
Primary Sclerosing Cholangitis
Renal insufficiency, Thyroiditis, Neoplasm of the gallbladder, Type I diabetes mellitus, Cholelit... ORPHA:171
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal mesentery morphology ORPHA:2167
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m... ORPHA:125
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
African Trypanosomiasis
Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Abnormality of the... ORPHA:3385
Scorpion Envenomation
Ketonuria, Priapism, Acute kidney injury, Glycosuria ORPHA:466677
Gaucher Disease
Osteomyelitis, Proteinuria, Osteoarthritis, Hepatitis, Hematuria ORPHA:355
Yellow Fever
Renal insufficiency, Anuria, Acute kidney injury, Pancreatic hyperplasia ORPHA:99829
Marburg Hemorrhagic Fever
Orchitis, Renal insufficiency ORPHA:99826
Lysinuric Protein Intolerance
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease, Hyperlysinuria OMIM:222700
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis ORPHA:2282
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Proteinuria OMIM:616682
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter... OMIM:268300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Pulmonary artery dilatation, Renal insufficiency, Anterior pituitary hypoplasia, Dila... OMIM:619534
Listeriosis
Acute kidney injury, Pyelonephritis ORPHA:533
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Coarctation of aorta, Hypogonadism OMIM:163950
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arterios... ORPHA:99125
Cystic Fibrosis
Male infertility, Hypercalciuria OMIM:219700
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:881
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Costello Syndrome
Renal insufficiency OMIM:218040
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Moderate albuminuria OMIM:614231
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Coarctation of aorta, Right aortic ... OMIM:164210
Blau Syndrome
Clear cell renal cell carcinoma, Stage 5 chronic kidney disease, Nephropathy, Abnormal salivary g... ORPHA:90340
Eisenmenger Syndrome
Renal insufficiency, Aortopulmonary window ORPHA:97214
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm ORPHA:83469
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema, Acute leukemia ORPHA:289
Acute Liver Failure
Acute kidney injury, Adrenal insufficiency ORPHA:90062
Wilms Tumor 1
Nephroblastoma OMIM:194070
Leptospirosis
Cellular urinary casts, Acute kidney injury ORPHA:509
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Chronic kidney disease ORPHA:642
Nephroblastoma
Hematuria, Nephroblastoma ORPHA:654
Microphthalmia, Syndromic 1
Cryptorchidism, Joint contracture of the hand, Pulmonary hypoplasia, Camptodactyly OMIM:309800
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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