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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wt1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Frasier Syndrome
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn... OMIM:136680
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Focal segmental glomerulosclerosis, Hy... ORPHA:347
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Meacham Syndrome
Stillbirth, Death in childhood, Cardiac total anomalous pulmonary venous connection, Patent ductu... OMIM:608978
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Situs inversus totalis, Transposition of... ORPHA:3097
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Wilms Tumor 1
Nephroblastoma OMIM:194070
Nephroblastoma
Nephroblastoma, Hematuria ORPHA:654
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Abnormal peritoneum morphology, Testicu... ORPHA:83469
Mesothelioma, Malignant
OMIM:156240

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria 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
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome, Proteinu... OMIM:617006
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu... OMIM:615244
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... OMIM:619155
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Enterocolitis, Focal segmental glomerulosclerosis OMIM:620425
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
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
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Cryptor... OMIM:617575
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Frasier Syndrome
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn... OMIM:136680
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... OMIM:603278
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Focal segmental glomerulosclerosis, Hy... ORPHA:347
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ... OMIM:256300
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c... OMIM:615993
Alport Syndrome
Clitoral hypertrophy, Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial f... ORPHA:63
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
46,Xy Sex Reversal 9
Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia, Sex reversal OMIM:616067
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Mesangial hypercellularity, Crescentic glomerulonephritis OMIM:616414
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Gout, Nephropathy, Chronic kidney disease OMIM:617056
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death, Pulmonary hypoplasia, Cryptorchidism OMIM:615524
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Male infertility, Primary testicular failure, Decreased glom... ORPHA:85450
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Omphalocele,... OMIM:613630
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus,... ORPHA:2578
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis OMIM:619603
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Pyknoachondrogenesis
Stillbirth OMIM:265880
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Non-obstructive a... OMIM:619528
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Hy... ORPHA:90797
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Focal segmental glomerulosclerosis, Nephro... OMIM:618347
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper... ORPHA:563609
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... OMIM:104200
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Intestinal inflammation, Proteinuria, Chilblains OMIM:619858
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Enterocolitis, Mild proteinuria, Focal segmental glomerulosclerosis OMIM:301108
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Increased variability in muscle fiber diameter, Neonatal de... OMIM:614096
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture ORPHA:171719
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Hepatomegaly, Cholestasis, Asplenia, Pulmonary hypoplasia, He... OMIM:615415
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Complement Factor H Deficiency
Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos... OMIM:609814
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema OMIM:614100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, He... OMIM:616307
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis OMIM:152700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Colonic eosinophilia, Hepatic cysts, Membranous nephropathy OMIM:618999
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Spermatogenic Failure 59
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619878
Leopard Syndrome 1
Delayed puberty, Hypospadias, Unilateral renal agenesis, Spina bifida occulta, Hypoplasia of the ... OMIM:151100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele, Pulmonary hypoplasia,... OMIM:601163
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia ORPHA:2140
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Recurrent myoglobinuria, Focal segmental glomerulosclerosis, Hypergonadotro... OMIM:607426
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Premature ovarian insufficiency, Chronic kidney... ORPHA:3156
Renal Tubular Dysgenesis
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts ORPHA:3033
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele ORPHA:2141
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma OMIM:609180
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Abnormal male external genital... OMIM:400044
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... OMIM:619113
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer... OMIM:602522
Mpdu1-Cdg
Renal cortical cysts, Eczematoid dermatitis ORPHA:79323
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Camptodactyly, Flexion contracture of finger, Distal arthrogryposis, F... OMIM:617194
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia of the left hemidiaphragm, Abno... ORPHA:2847
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Camptodactyly... OMIM:617468
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Nephronophthisis
Renal insufficiency ORPHA:655
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus ORPHA:261102
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Cor... ORPHA:439232
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Coarctation of aorta, Diffuse mesangial sclerosis, Prot... OMIM:617729
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Amyloidosis, Familial Visceral
Hematuria, Skin rash, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Vesicoureteral reflux, Tetralogy of Fallot, Multiple renal cysts... ORPHA:1166
Serkal Syndrome
Congenital diaphragmatic hernia, Hypospadias, Abnormal penis morphology, Pulmonic stenosis, Pulmo... ORPHA:139466
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Nephrosialidosis
Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Renal insufficiency OMIM:256150
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Glomerulonephritis OMIM:619375
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Skeletal muscle atrophy, Art... OMIM:253310
Genitopalatocardiac Syndrome
Right aortic arch, Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Atrioventricular canal defect, Abnormal ... ORPHA:1120
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Diffuse alveolar hemor... OMIM:614034
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Polyhydramnios, Polycystic kidney dyspla... OMIM:263210
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Absence of... ORPHA:432
Precocious Puberty, Central, 2
Premature pubarche, Premature thelarche OMIM:615346
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Cryptorchidism, Renal insufficiency ORPHA:281090
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Sex reversal OMIM:613743
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Bardet-Biedl Syndrome 19
External genital hypoplasia, Renal hypoplasia, Hydronephrosis, Hypogonadism, Renal insufficiency OMIM:615996
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic... OMIM:300555
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Pulmonary hypoplasia, Fl... OMIM:616867
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Microscopic hematuria, Mac... ORPHA:567546
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Acute Interstitial Pneumonia
Ground-glass opacification, Atelectasis, Pleural effusion, Parenchymal consolidation, Bronchiecta... ORPHA:79126
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Prune Belly Syndrome
Decreased fertility, Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urin... ORPHA:2970
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Sex reversal OMIM:613080
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Bilateral lung agenesis, Inguinal hernia,... OMIM:601186
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Arthritis, Proteinuria, Renal insufficiency ORPHA:375
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Azoospermia, Infertility, Oligozoospermia, Type II dia... OMIM:615703
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Unilateral wrist flexion contracture, K... OMIM:616531
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Recurrent urinary tract infections, Arthritis, Nephrotic syndrome, Recurr... OMIM:615559
Nephronophthisis-Like Nephropathy 2
Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney disease, Re... OMIM:619468
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... OMIM:254900
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ... OMIM:603860
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab... ORPHA:3032
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, Asplenia, Enam... OMIM:240300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Asplenia, Respiratory tract infection, Recurrent sinopulmo... ORPHA:244
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:251300
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Ventricular hypertrophy, Pulmonary arterial hypertension, Tetral... OMIM:300887
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p... OMIM:611812
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Oligomeganephronia
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Unilateral renal agenesis,... ORPHA:2260
Trisomy X
Premature ovarian insufficiency, Renal hypoplasia/aplasia, Secondary amenorrhea, Precocious puber... ORPHA:3375
Acrorenal Syndrome
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:971
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Meacham Syndrome
Stillbirth, Death in childhood, Cardiac total anomalous pulmonary venous connection, Patent ductu... OMIM:608978
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Nephrotic syndrome, Recurrent pneumonia, Membranoproliferative glomeru... OMIM:619644
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia, Myopathy OMIM:185070
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Joubert Syndrome 20
Renal cyst OMIM:614970
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Arteriosclerosis, Focal segmental... OMIM:242900
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate... ORPHA:29072
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Camptodactyly of finger, Pulmonary hypoplasia ORPHA:2631
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Right Atrial Isomerism
Abnormal lung lobation, Inguinal hernia, Pulmonary artery atresia, Total anomalous pulmonary veno... OMIM:208530
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thickened glomerul... OMIM:619487
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Renal cyst, Vaginal atresia, Diabetes mellitus OMIM:605231
Spermatogenic Failure 17
Male infertility OMIM:617214
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
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
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Hypospadias, Abnormal heart morphology, Pulmonary hypoplasia, Mi... OMIM:300978
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Proteinuria, Umbilical hernia, Ventricular septal d... ORPHA:2143
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
48,Xyyy Syndrome
Abnormal renal morphology, Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Situs inversus totalis, Transposition of... ORPHA:3097
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Glycogen Storage Disease Ia
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... OMIM:146255
C Syndrome
Renal cortical cysts OMIM:211750
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia ORPHA:36
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Pulmonary hypoplasia, Peripheral pulmonary vessel apla... OMIM:273395
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal i... OMIM:269200
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hypogonadism, A... ORPHA:752
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Nephritis, Renal tubular atrophy, Renal insuff... OMIM:162000
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Type II diabetes mellitus, Cryptorchidi... ORPHA:2377
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Renal insufficiency ORPHA:3327
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Minimal change glomerulonephritis, Nephrotic range proteinuria... ORPHA:1830
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil n... ORPHA:250999
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephrotic syndrome, Proteinuria,... ORPHA:85445
Gracile Bone Dysplasia
Death in infancy, Hypoplastic spleen, Asplenia OMIM:602361
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Emanuel Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Torticollis, Inguinal hernia, Unilateral r... OMIM:609029
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Renal insufficiency, Xanthinuria, Nephrolithiasis OMIM:603592
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Eczematoid dermatitis, Erythroderma, Hepatitis, Glomerulonephritis OMIM:304790