Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NIMA (never in mitosis gene a)-related expressed kinase 8
Synonyms:
N/A

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 Nek8 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 Nek8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Nek8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hutterite Cerebroosteonephrodysplasia Syndrome
Nephrotic syndrome OMIM:236450
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... OMIM:615382
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Dextrocardia, Double outlet right ... OMIM:605376
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Enlarged kidney, Cystic renal dysplasia, ... OMIM:615415
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Recurrent gast... OMIM:615615
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Abdominal situs ambiguus, Ventr... OMIM:208530
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Dextrocardia
Abnormal renal morphology, Situs inversus totalis, Congenital malformation of the great arteries,... ORPHA:1666
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Recurrent urinary tract infections, Hypertension, Dextroca... OMIM:613095
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Minimal chan... OMIM:617006
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, Splenomegaly, B lymphocytopenia, Recur... OMIM:619164
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Bardet-Biedl Syndrome 8
Renal dysplasia, Situs inversus totalis, Hypospadias OMIM:615985
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:300991
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Renal cortical cysts OMIM:617668
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:608644
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Oligohydramnios, Pancreatic cysts, Biliary cirrhosi... OMIM:267010
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Dea... OMIM:618845
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Pulmonary insufficiency, Absent outer dynein arms, Chroni... OMIM:614017
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Encephalitis, Colitis OMIM:616098
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Abnormal heart morphology OMIM:618300
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Absent ou... OMIM:613193
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventric... ORPHA:1909
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic s... OMIM:618699
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Chronic bronchitis OMIM:615451
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Si... OMIM:615505
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... ORPHA:3033
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Ciliary Dyskinesia, Primary, 9
Recurrent sinusitis, Situs inversus totalis, Pneumonia, Bronchiectasis OMIM:612444
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Elevate... OMIM:231680
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Recurrent resp... OMIM:616037
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Recurrent respiratory... OMIM:617092
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Arrhythmia, Ventricular septal defect, Aminoaciduri... OMIM:249270
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... OMIM:613807
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle, Chronic s... ORPHA:244
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Situs inversus totalis, Chron... OMIM:612518
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Chronic diarrhea,... OMIM:619281
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Nephronophthisis 15
Nephronophthisis OMIM:614845
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Bronchiectasis, Reduced natura... OMIM:618108
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Trimethylaminuria
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia OMIM:602079
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... OMIM:619123
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Recurrent ... OMIM:615500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent inner and ou... OMIM:615444
Immunodeficiency 70
Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Achalasia, Co... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Abnormal axonemal org... OMIM:613808
Familial Visceral Myopathy
Megacystis, Hydroureter, Abdominal situs inversus, Vesicoureteral reflux, Prominent nasal bridge,... ORPHA:2604
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Recurrent sinusitis, Situs inversus totalis, Chronic bronchitis OMIM:614874
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent inner and ou... OMIM:614935
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Feeding difficulties, Decreased proportion of CD4-p... OMIM:617241
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of th... ORPHA:3032
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Hyperlipoproteinemia, Type Id
Colitis, Splenomegaly OMIM:615947
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Urolithiasis, Uric Acid, Autosomal Dominant
Uric acid urolithiasis independent of gout OMIM:191700
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Nephronophthisis
Renal insufficiency ORPHA:655
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Inflammation of the large... OMIM:615767
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Aortic root aneurysm, Persistent... OMIM:609008
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Hyperten... OMIM:610205
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Abnor... ORPHA:275555
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Decreased plasma total carnitine, Enlarged kidney, Dec... OMIM:608836
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Sterile abscess... OMIM:604416
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney ORPHA:1988
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Renal insufficiency, Nephritis, Nephropathy OMIM:162000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Di... OMIM:616050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts, Renal... OMIM:263630
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Stage 5 chronic kidney disease, Splenomegaly OMIM:616217
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Hypoplasia of penis ORPHA:990
Joubert Syndrome 20
Renal cyst OMIM:614970
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Renal cyst, Splenomegaly, Renal cortical microcysts, Hepatosplenomegaly OMIM:614866
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly ORPHA:2924
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased basophil count, Chronic diarrhe... OMIM:618394
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth, Pulmonary hypoplasia, Renal agenesis, Ureteral agenesis OMIM:274210
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Pagod Syndrome
Arrhythmia, Situs inversus totalis, Abnormal aortic morphology, Death in infancy, Pulmonary arter... ORPHA:991
Harrod Syndrome
Hypospadias, Renal cortical microcysts OMIM:601095
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Situs inversus totalis, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Short Rib-Polydactyly Syndrome
Polyhydramnios, Nephronophthisis, Situs inversus totalis, Urogenital sinus anomaly, Abnormal hear... ORPHA:1505
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Lymphopenia, Decreased proportion of CD4-positive helper T cel... OMIM:615518
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Hyperca... ORPHA:251004
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Tyrosinemia, Type I
Enlarged kidney, Hypertyrosinemia, Hypophosphatemic rickets, Glomerular sclerosis, Hypermethionin... OMIM:276700
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Hepatomegaly, Renal dysplasia, Renal cyst, Stage 5 chronic kidney ... OMIM:266920
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232200
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Neonatal death, Bilateral lung agenesis, Coarctation ... OMIM:601612
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Perianal abscess, Rectovaginal fistula, Enterocolitis OMIM:612567
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increas... OMIM:600740
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Hepatom... ORPHA:26791
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Wide nasal bridge, Pulmonary artery atresia, T... ORPHA:1908
C Syndrome
Hepatomegaly, Renal cortical cysts OMIM:211750
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Mosaic Trisomy 1
Penile hypospadias, Micropenis, Renal cortical cysts, Renal cyst ORPHA:1692
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic k... ORPHA:439232
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Wiskott-Aldrich Syndrome
Decreased proportion of CD4-positive helper T cells, Melena, Diarrhea, Eczema, Eosinophilia, Iron... OMIM:301000
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary hypoplasia, Non... OMIM:619003
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Asplenia, Chronic ... OMIM:244400
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus, Wide nasal bridge, Depressed nasal bridge ORPHA:2062
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Xanthinuria, Type Ii
Renal insufficiency, Nephrolithiasis OMIM:603592
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:2237
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal heart valve morphology, Abdominal situs inversus, Abnormality of t... ORPHA:280
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Aminoaciduria, Elevated circulating long chain fatty a... OMIM:214110
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Elevated... OMIM:137920
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Marden-Walker Syndrome
Situs inversus totalis, Renal agenesis, Hydroureter, Abnormal anatomic location of the heart, Ven... ORPHA:2461
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Death in adolescence, Ventricular tachycardia, Congestive heart failur... OMIM:605676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Renal cyst, Hydronephrosis, Elevated circulating creatine kinase concentration, ... OMIM:615287
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of CD4-positive helper T cells,... ORPHA:543
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Hepatomegaly, Renal cortico... OMIM:243910
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Hydrops fetalis, Gastrointestinal hemorrhage, Abnormal tricuspid... ORPHA:90308
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hepatomegal... OMIM:214100
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hepatomegaly, Splenom... OMIM:617303
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Gastrointestinal dysmotility, Acute colitis, Constrictive pericarditis, Abdominal p... ORPHA:67
Distal Tetrasomy 15Q
Horseshoe kidney, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the... ORPHA:314588
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of penis ORPHA:261290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Hepatomegaly, Renal cyst, Stage 5 chronic kidney dis... OMIM:216360
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Pneumonia, Pancytopenia, Decreased proportion of class-switched memo... OMIM:614700
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Abdominal situs inversus, Choanal atresia, Tracheomalacia, Congestive ... ORPHA:2108
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gran... OMIM:618935
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Abdominal ... ORPHA:90038
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Renal cortical cysts, Renal dysplasia, Hyperechogenic kidneys, Hypospadias ORPHA:397715
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesicoureteral reflu... ORPHA:1166
Cyclic Neutropenia
Peritonitis, Abdominal pain, Decreased eosinophil count, Tooth abscess, Lymphopenia, Periodontiti... ORPHA:2686
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Increased urinary urate, Renal tubular epithelial necrosis, Acute kidn... OMIM:220150
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Hypertension, Splenomegaly, Edema, Nephrotic s... OMIM:105200
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Prune Belly Syndrome
Atrial septal defect, Urogenital sinus anomaly, Oligohydramnios, Hydroureter, Ventricular septal ... ORPHA:2970
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Hepatomegaly, Renal cyst, Renal insuff... OMIM:614922
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Edem... ORPHA:101028
8P23.1 Duplication Syndrome
Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Wide nose ORPHA:251076
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Cardiomegaly, ... ORPHA:255249
Phelan-Mcdermid Syndrome
Impaired social interactions, Poor eye contact, Vesicoureteral reflux, Polycystic kidney dysplasi... OMIM:606232
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Shigellosis
Peritonitis, Pneumonia, Anorexia, Hypovolemic shock, Myocarditis, Vomiting, Bloody diarrhea, Para... ORPHA:810
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hepatomegaly, Hypoalbu... OMIM:222470
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Leukopenia, Colitis OMIM:615190
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Cholelithiasis, Wide nasal bridge, Double outlet ... OMIM:614886
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Ventricular septal defect, Duplicated collecting system, Abnormal left ventricula... OMIM:301056
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal renal morphology, Ventricular septal defect, Abn... ORPHA:477817
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Renal cyst, Polycystic kidney dysplasia, Splenomegaly OMIM:610199
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Chronic kidney disease, Splenomegaly OMIM:615630
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Joubert Syndrome
Prominent nasal bridge, Situs inversus totalis, Anteverted nares ORPHA:475
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Neutropenia, Colitis, Protracted diarrhea, Cholangitis, Encepha... OMIM:209920
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney ORPHA:464329
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Wolcott-Rallison Syndrome
Atrial septal defect, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Dehydration, Dou... ORPHA:1667
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper T cells,... OMIM:300853
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Polycystic kidney dysplasia, Splenomegaly ORPHA:53035
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Glomerulonephritis, Glomerular baseme... OMIM:104200
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Panniculitis, Diarrhea OMIM:615758
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Nk-Cell Enteropathy
Gastric ulcer, Increased T cell count, Hematochezia, Abdominal pain, Constipation, Gastroesophage... ORPHA:263665
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Hydroureter, Arteria lusoria, Tricuspid regurgitation, Urethr... OMIM:212093
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Diarrhea, Pulmonary arterial hypertension, Eczema, Autoimmune thromb... ORPHA:391487
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Hyponatremia, Oliguria,... ORPHA:731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Isolated Cleft Lip
Polyhydramnios, Situs inversus totalis ORPHA:199302
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Elevated circulating creatinine concentration, ... ORPHA:93126
Meckel Syndrome
Urethral atresia, Situs inversus totalis, Accessory spleen, Oligohydramnios, Pancreatic cysts, Pa... ORPHA:564
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Pulmonary edema, Non... OMIM:617300
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Multicystic kidney dysplasia OMIM:300209
Maternal Phenylketonuria
Abnormal renal morphology, Ventricular septal defect, Abnormal heart morphology, Wide nasal bridg... ORPHA:2209
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Anemia, Vasculitis... ORPHA:324964
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:214
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
H Syndrome
Enlarged kidney, Hypertriglyceridemia, Hepatosplenomegaly, Micropenis, Abnormality of the kidney ORPHA:168569
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease OMIM:618061
Sepsis In Premature Infants
Gastrointestinal dysmotility, Leukocytosis, Hypotension, Neutropenia, Bradycardia, Thrombocytopen... ORPHA:90051
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated circulating creatinine concen... ORPHA:91547
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Tubulointerstitial fibrosis, Edema, Ascites, Portal h... OMIM:232500
Sweet Syndrome
Inflammation of the large intestine, Pustule, Small vessel vasculitis, Dilated cardiomyopathy, Le... ORPHA:3243
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Edema, Stage 5 chronic kidney disease, Proteinuria OMIM:603278
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Patent ductus arteriosus, Cardiomegaly, Prolong... OMIM:601005
Tuberous Sclerosis Complex
Abnormal social behavior, Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney disease, Ren... ORPHA:805
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Giant Cell Arteritis
Recurrent pharyngitis, Hematuria, Pericarditis, Arrhythmia, Abnormal pleura morphology, Aortic di... ORPHA:397
X-Linked Intellectual Disability, Nascimento Type
Underdeveloped nasal alae, Ventricular septal defect, Oligohydramnios, Peripheral pulmonary arter... ORPHA:163956
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting, Eosinophilia OMIM:610247
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Abnormality of medullary pyramid morphology ORPHA:79243
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Renpenning Syndrome 1
Atrial septal defect, Situs inversus totalis, Bulbous nose, Ventricular septal defect, Renal hypo... OMIM:309500
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney, Agenesis of pul... OMIM:601186
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Intracranial hemorrhage, Death in infancy, Hepatomegaly, Neonatal de... ORPHA:85212
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hepatomegaly, Polycystic kidney dysplasia, Abn... ORPHA:480520
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis... ORPHA:567548
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Spider hemangioma, Gastrointestinal hemorrh... ORPHA:2137
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Hypoalbuminemia, Nephrotic syndrome, Urinary... ORPHA:505248
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Ureteral duplication, Abnormality of the p... ORPHA:1926
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Arrhythmia, Aortic regurgitation, Hip osteoarthritis, Psoria... OMIM:106300
Joubert Syndrome 14
Renal cyst OMIM:614424
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Atrial septal defect, Situs inversus totalis, Anasarca, Underdeveloped na... OMIM:243800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia... ORPHA:79259
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Renpenning Syndrome
Heterotaxy ORPHA:3242
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death, Hydrops fetalis OMIM:276822
Syndromic Diarrhea
Abnormality of iron homeostasis, Renal hypoplasia, Hepatomegaly, Polycystic kidney dysplasia, Spl... ORPHA:84064
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Syncope, Atrial fibrillation, Abnormal left ventri... ORPHA:75249
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, Anemia, V... ORPHA:3260
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Transketolase Deficiency