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Gene: Nek8 MGI:1890646

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NIMA (never in mitosis gene a)-related expressed kinase 8
Synonyms:
4632401F23Rik,  b2b1449Clo

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415

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
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hutterite Cerebroosteonephrodysplasia Syndrome
Nephrotic syndrome OMIM:236450
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Abdominal situs inversus, Atrio... OMIM:605376
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... OMIM:620642
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic... OMIM:603860
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia OMIM:614493
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Immunodeficiency 116
Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Colitis, T l... OMIM:619164
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis, Impaired lymphocyte transformation with phytohemagglu... OMIM:617006
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypospadias, Renal dysplasia OMIM:615985
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Abnormal lung lobation, Abno... ORPHA:1666
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Mirror Movements 3
Situs inversus totalis OMIM:616059
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Oligohydramnios, Renal insufficiency, ... ORPHA:1909
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... OMIM:267010
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Oligohydramnios, ... ORPHA:3033
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... OMIM:231060
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Abnormal... ORPHA:3097
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhyth... OMIM:249270
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618699
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615504
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Situs inversus totalis, Bronchiectasis OMIM:614017
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615505
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Dec... OMIM:615767
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... OMIM:618969
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Pulmonary situs ambi... ORPHA:244
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... OMIM:618108
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Mpdu1-Cdg
Renal cortical cysts, Elevated circulating creatine kinase concentration ORPHA:79323
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:617241
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... ORPHA:911
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:612444
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurre... OMIM:613807
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Oligohydramnios, Abnormal biliary tract morphology, Abnormal liver ... ORPHA:3032
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti... OMIM:616733
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Pul... OMIM:619123
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615500
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Situs inversus totalis, Atrial septal defect OMIM:619881
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620197
Colonic Atresia
Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Nephronophthisis
Renal insufficiency ORPHA:655
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:616481
Joubert Syndrome 20
Renal cyst OMIM:614970
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Recurrent respirat... OMIM:615444
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:612650
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... OMIM:617638
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... OMIM:608647
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... OMIM:615994
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... OMIM:618806
Nephronophthisis 15
Nephronophthisis OMIM:614845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Renal dysplasia, Increased total biliru... OMIM:608836
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Pancytopenia,... OMIM:616050
Familial Visceral Myopathy
Abdominal situs inversus, Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... OMIM:604416
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholestasis, T... OMIM:610205
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Hypoglossia With Situs Inversus
Asplenia, Situs inversus totalis, Polysplenia OMIM:612776
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Agnathia-Otocephaly Complex
Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia OMIM:202650
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Nephronophthisis 19
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int... OMIM:616217
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth, Polyhydra... OMIM:263630
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... OMIM:615617
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Renal insufficiency, Right aorti... OMIM:617478
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Heterotaxy, ... ORPHA:3426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic... OMIM:613730
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... ORPHA:991
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... OMIM:619657
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Hypoplasia of penis, Situs inversus totalis ORPHA:990
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Pulmonary arterial hypertension, Lacti... OMIM:619003
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
C Syndrome
Hepatomegaly, Renal cortical cysts OMIM:211750
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, At... OMIM:179613
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy... OMIM:220210
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Thrombocytopenia, Anemia... OMIM:613101
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr... OMIM:613390
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... OMIM:301000
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Persistent left superior vena cava... OMIM:314390
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, N... OMIM:613686
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hepatomegaly, Elevated circulating long chain fatty acid concentration, Polycystic... OMIM:214110
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Congestive heart failure, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal ... ORPHA:67
Wolf-Hirschhorn Syndrome
Abnormality of the urinary system, Abdominal situs inversus, Abnormal heart valve morphology, Abn... ORPHA:280
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Hepatic steatosis,... OMIM:614922
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Increased circulating very long-chain fatty acid concentration, Elevated circulating... OMIM:614866
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... ORPHA:2237
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Hypospadias, Renal dysplasia ORPHA:397715
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Decreased proportion of CD4-positive help... ORPHA:543
Hydrops Fetalis
Generalized edema, Abnormality of the urinary system, Lymphedema, Ascites, Abnormal heart morphol... ORPHA:1041
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... ORPHA:2970
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Abnormality of the pulmon... ORPHA:1166
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus OMIM:615542
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Conges... ORPHA:2326
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Organic aciduria, Death in infancy, Neonatal death OMIM:617184
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Hepatomegaly, Elevated circulating long chain fatty acid concentra... OMIM:214100
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Peripheral arteriovenous fistula, Congestive hea... ORPHA:90308
Ellis Van Creveld Syndrome
Hydroureter, Emphysema, Abnormality of the ureter, Atrioventricular canal defect, Abnormal heart ... ORPHA:289
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine... OMIM:619534
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Sple... OMIM:222470
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... OMIM:620449
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Splenomegaly, Proteinuria, Hepato... OMIM:617303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Anal fi... OMIM:618935
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory B cells, U... OMIM:614878
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Cirrhosis, A... ORPHA:101028
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe... ORPHA:2686
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Esophageal stenosis OMIM:615190
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-complex deposit... OMIM:616307
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Inflammation of the large intestine, Oral leukoplakia, Pancyto... OMIM:620133
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Vesicoureteral reflux, Polyhydramnios, Ventricular septal defect, H... OMIM:301056
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Inflammation of the large intestine, Bl... OMIM:617718
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Blo... ORPHA:810
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia, Increased ... OMIM:610199
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Hallermann-Streiff Syndrome
Abdominal situs inversus, Congestive heart failure ORPHA:2108
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Reduced social reciprocity, Abnormality of th... OMIM:606232
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts, Enlarged kidney ORPHA:464329
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... ORPHA:75249
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia OMIM:602579
Caroli Disease
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Wolcott-Rallison Syndrome
Chronic kidney disease, Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Ren... ORPHA:1667
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Bilate... OMIM:613630
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Microphthalmia, Syndromic 9
Ventricular septal defect, Neonatal death, Atrial septal defect, Single ventricle, Hypoplastic sp... OMIM:601186
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
8P23.1 Duplication Syndrome
Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... ORPHA:98813
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Hepatomegaly,... ORPHA:79303
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Lethal Congenital Contracture Syndrome 8
Polyhydramnios, Death in infancy, Neonatal death OMIM:616287
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Isolated Cleft Lip
Polyhydramnios, Situs inversus totalis ORPHA:199302
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal... ORPHA:805
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Sepsis In Premature Infants
Hypotension, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnor... ORPHA:90051
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Enlarged kidney, Nephroblastoma ORPHA:276280
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Oligohydramnios, Situs inversus... ORPHA:564
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:324964
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i... OMIM:106700
Caroli Syndrome
Hyperbilirubinemia, Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia, Conjuga... ORPHA:480520
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney ORPHA:168569
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Renal tubular dysfunction, Double outlet right ventricle, Atrial septal defect, P... OMIM:614886
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bic... ORPHA:371428
Joubert Syndrome
Situs inversus totalis ORPHA:475
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,... ORPHA:79259
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormal heart morphology, Hepatic... ORPHA:400
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Mody
Nephropathy, Glycosuria, Abnormal circulating C-peptide concentration, Renal cyst, Abnormality of... ORPHA:552
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Sweet Syndrome
Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n... ORPHA:3243
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Splenomegaly... ORPHA:2137
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Tricuspid regurgitation, Left ventricula... OMIM:619167
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration, Hepat... ORPHA:488618
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Renpenning Syndrome
Heterotaxy ORPHA:3242
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Vesicoureteral reflux... ORPHA:163956
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Syndromic Diarrhea
Renal hypoplasia, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, Polycystic kidney ... ORPHA:84064
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Polyhydramnios, Fetal meg... OMIM:619362
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... ORPHA:567548
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Tubulointerstitial f... OMIM:232500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... OMIM:301110
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy... OMIM:618999
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca... ORPHA:505248
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly OMIM:615630
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Campomelia, Cumming Type
Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Oligohydramnios, Death in infancy, Mu... ORPHA:1318
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Gastrointestinal infarctions, Hemolytic anemia,... ORPHA:544482
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Renpenning Syndrome 1
Renal hypoplasia, Tetralogy of Fallot, Situs inversus totalis, Death in childhood, Phimosis, Vent... OMIM:309500
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Eczematoid dermatitis,... OMIM:618131
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... ORPHA:572
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Neonatal death OMIM:618237
Cocaine Intoxication
Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Intestinal perfora... ORPHA:90068
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased liver function, Splenomegaly, Skin rash, Infectious encephalitis, Ery... ORPHA:540
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia ORPHA:48104
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Dilated cardiomyopathy, Secretory diarrhea, Third degree atr... OMIM:619573
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Stillbirth, Hepatomega... ORPHA:85212
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Polyhydramnios, Edema OMIM:607598
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defect, Neonatal de... OMIM:265380
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Afibrinogenemia, Congenital
Epistaxis, Subdural hemorrhage, Death in childhood, Death in infancy, Neonatal death, Death in ad... OMIM:202400
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Neonatal death OMIM:612138
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in childhood, Death in infancy, Bradycardia OMIM:620265
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Stroke, Heart m... ORPHA:1054
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Abnormal medullary pyramid morphology ORPHA:79243
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... ORPHA:567546
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Immunodeficiency 22
Diarrhea, Protracted diarrhea, Decreased proportion of CD4-positive helper T cells, Abscess, Thro... OMIM:615758
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, ... ORPHA:96149
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Edema, Neonatal death OMIM:610498
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polyhydramnios, Neonatal death OMIM:619602
Congenital Disorder Of Glycosylation, Type Ih
Ascites, Cholestasis, Oligohydramnios, Death in infancy, Neonatal death, Perimembranous ventricul... OMIM:608104
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... ORPHA:276
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Glycogen Storage Disease Ic
Inflammation of the large intestine, Spider hemangioma, Cyclic neutropenia, Gout, Chronic pancrea... OMIM:232240
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ne... ORPHA:29073
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Kawasaki Disease
Vasculitis, Sterile pyuria, Hepatitis, Congestive heart failure, Ascending tubular aorta aneurysm... ORPHA:2331
Mosaic Trisomy 9
Renal dysplasia, Abnormal lung lobation, Horseshoe kidney, Abnormal heart valve morphology, Oligo... ORPHA:99776
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Budd-Chiari syndrome, Abnormal mesentery morphology, Abnormal ... ORPHA:284
Congenital Factor Xiii Deficiency
Epistaxis, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia, Cerebral hemor... ORPHA:331
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Elevated circulating creatinine concentration, Glomerular sclerosis ORPHA:247691
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Tachyca... OMIM:618280
Nephrotic Syndrome, Type 8
Chronic kidney disease, Generalized edema, Thin glomerular basement membrane, Stage 5 chronic kid... OMIM:615244
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg... OMIM:252500
Johanson-Blizzard Syndrome
Generalized edema, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatic fibrosis, Anasarca, ... OMIM:243800
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Polyhydramnios, Hypospadias OMIM:619334
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia... ORPHA:508533
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis, Abdominal ... OMIM:203300
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Alg9-Cdg
Hypoplasia of the bladder, Hepatic cysts, Abnormal renal artery morphology, Hydronephrosis, Hepat... ORPHA:79328
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Displacement of the urethral meatus, Hydroneph... ORPHA:3378
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Pal... ORPHA:2847
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Complete atrioventricular canal defect, Ventricular septal defe... OMIM:264480
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Lymphedema, Ascite... ORPHA:538
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction,... OMIM:201475
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... ORPHA:508
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Renal agenesis, Abnormality... OMIM:249000
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Multicystic kidney dysplasia, Double out... ORPHA:1596
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Proximal tubulopathy, Cardiomyopathy, Stroke-like episode, Hepatic steatosis, D... OMIM:212065
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ... OMIM:618885
Ogden Syndrome
Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarge... OMIM:300855
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall... ORPHA:887
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, G... OMIM:616843
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Ulcerative colitis ORPHA:555905
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor... ORPHA:793
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u... ORPHA:230
Kleefstra Syndrome
Recurrent respiratory infections, Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency... ORPHA:261494
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Reduced social reciprocity ORPHA:261197
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:245650
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Conjunctivitis, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenom... OMIM:620376
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts... OMIM:208500
Joubert Syndrome 14
Renal cyst OMIM:614424
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... OMIM:618213
22Q11.2 Deletion Syndrome
Renal hypoplasia, Vesicoureteral reflux, Splenomegaly, Hypocalcemia, Multiple renal cysts, Polycy... ORPHA:567
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
Carpenter Syndrome 2
Tricuspid regurgitation, Situs inversus totalis, Transposition of the great arteries, Atrial sept... OMIM:614976
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Death in infancy, Neonata... OMIM:300219
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Trisomy 1Q
Multicystic kidney dysplasia, Increased nuchal translucency, Ventricular septal defect, Hydroneph... ORPHA:261344
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Polyhydramnios, Neonatal death, Micropenis, Hepatomegaly OMIM:618810
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,... ORPHA:2473
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Reduced social reciprocity, Recurrent urinary tract infections OMIM:615873
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Thrombocytopenia, Chronic diarrh... OMIM:614576
Lethal Congenital Contracture Syndrome 1
Neonatal death, Edema, Pulmonary hypoplasia OMIM:253310
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration, Neonatal death OMIM:602199
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Death in infancy, Neo... OMIM:620167
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo... ORPHA:2184
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ureterop... OMIM:280000
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy, Nonimmune hydrops fetalis OMIM:618835
Ring Chromosome 7 Syndrome
Heart murmur, Situs inversus totalis, Hypospadias ORPHA:1449
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Atelectasis, Ascites, Splenomegaly, Patent foramen ovale, ... OMIM:269860
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Neona... OMIM:620244
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Hyperbilirubinemia, Renal cyst, Micropenis, Polycystic kidney dysplasia OMIM:210710
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Pseudo-Torch Syndrome 2
Hepatomegaly, Abnormal renal corticomedullary differentiation OMIM:617397
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Edema, Abnormal left ventricular function, Cong... ORPHA:97292
Zellweger Syndrome
Hydronephrosis, Hepatomegaly, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias OMIM:257300
Von Hippel-Lindau Disease
Macular edema, Cardiomyopathy, Palpitations, Neoplasm of the pancreas, Elevated urinary catechola... ORPHA:892
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Ureterocele, Urinar... ORPHA:79404
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... ORPHA:2255
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy, Lymphedema OMIM:616342
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuri... OMIM:600001
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid... ORPHA:369837
Fryns Syndrome
Abnormal aortic arch morphology, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicouretera... ORPHA:2059
Femoral-Facial Syndrome
Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis OMIM:134780
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney... OMIM:115470
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Thoracoabdominal Syndrome
Renal agenesis, Transposition of the great arteries, Ectopia cordis, Hypospadias, Patent ductus a... OMIM:313850
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Pentalogy Of Cantrell
Renal agenesis, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbla... ORPHA:1335
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Vesicoureteral reflux, Complete atrio... OMIM:617063
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Keratoconjunctiviti... ORPHA:309031
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... OMIM:153400
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Primary Sclerosing Cholangitis
Spider hemangioma, Uveitis, Palmar telangiectasia, Celiac disease, Congestive heart failure, Acut... ORPHA:171
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallot, Oligohydramnios, Neonatal death, Hydr... OMIM:311900
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly ORPHA:1454
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni... OMIM:146510
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
D-Bifunctional Protein Deficiency
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Splenom... OMIM:261515
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... ORPHA:29207
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys OMIM:620047
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis OMIM:618223
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Neonatal death, ... OMIM:617925
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating creatinine concentr... ORPHA:91500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Oligohydramnios, Polyhydr... ORPHA:464311
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Joubert Syndrome 21
Renal cyst, Splenomegaly, Hyperechogenic kidneys OMIM:615636
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia OMIM:616300
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Gastrointestinal hemorrhage, Bilateral renal hypoplasia, Abnormal lung... ORPHA:508488
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Ventricular septal defect, Hypoplastic aortic... OMIM:619503
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Renal insuffic... OMIM:613610
Bloom Syndrome
Pneumonia, Cheilitis, Uveitis, Gastroesophageal reflux, Neoplasm of the colon, Stomach cancer, Ab... ORPHA:125
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Renal dysplasia ORPHA:85284
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Vesicoureteral reflux, Renal in... ORPHA:96147
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone... OMIM:312870
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Coar... OMIM:600460
Pearson Syndrome
Glycosuria, Cardiomyopathy, Exocrine pancreatic insufficiency, Abnormal heart morphology, Abnorma... ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... OMIM:266920
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Fryns Syndrome
Ectopic pancreatic tissue, Chylothorax, Renal agenesis, Polysplenia, Ventricular septal defect, H... OMIM:229850
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Leopard Syndrome 1
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund... OMIM:151100
Charge Syndrome
Renal hypoplasia, Secundum atrial septal defect, Renal agenesis, Horseshoe kidney, Tetralogy of F... OMIM:214800
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormality of the pulmonary veins, Abnormal cardiac ventricle morphology,... ORPHA:2306
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Carpenter Syndrome 1
Hydroureter, Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Transpo... OMIM:201000
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Oligohydramnios, Death in childhood, 3-Methylglutaconic aciduria, Ne... OMIM:614052
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Abnormal lung lobation, Ascites, Increased nu... ORPHA:1052
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, D... OMIM:605711
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney ORPHA:744
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular sep... OMIM:236680
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Vent... OMIM:270400
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Splenomegaly, Nonimmune hydrops fetalis, Cardiomegaly, Hepatomegaly,... OMIM:608013
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Interface hepatitis, Sclerosing cholangitis, Gran... ORPHA:562639
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Polysplenia, Bundle branch block, Poly... ORPHA:373
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... ORPHA:99829
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Hypospadias, Long penis, Polycystic kidney dysplasia OMIM:268300
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Hamamy Syndrome
Atrial septal defect, Prolonged QRS complex, Complete atrioventricular canal defect, Mitral regur... OMIM:611174
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Complete atrioventricular canal defect ORPHA:476126
Williams Syndrome
Death in early adulthood, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect,... ORPHA:904
Diets-Jongmans Syndrome
Heterotaxy, Ventricular septal defect OMIM:618846
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity... OMIM:614437
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hyperamylase... ORPHA:99826
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... ORPHA:534
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias OMIM:616975
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Iridocyclitis, Pulmonary arteria... OMIM:181000
Fumarase Deficiency
Hepatic failure, Necrotizing enterocolitis, Polycythemia, High palate OMIM:606812
Thakker-Donnai Syndrome
Hydronephrosis, Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... OMIM:615287
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Recurrent respiratory infections, Tetralogy of Fallot, Abnormal pul... ORPHA:1507
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Neonatal death, At... OMIM:620024
Tetrasomy 9P
Pulmonary hypoplasia, Recurrent urinary tract infections, Horseshoe kidney, Juxtaductal coarctati... ORPHA:3310
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Dicarboxylic aciduria, Reduced number of intrahepatic bile ducts, Neona... OMIM:614887
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormal lung lobation, Atrioventr... ORPHA:818
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intrav... OMIM:619055
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Abnormal heart valve morphology, Abnormality of the spl... ORPHA:1606
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Schinzel-Giedion Syndrome
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni... ORPHA:798
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Neonatal death, Coronal hypospadias OMIM:619859
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Annular pancreas, De... ORPHA:2308
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, Pulmonic stenosis, High pa... OMIM:617137
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Vater/Vacterl Association
Renal agenesis, Renal dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Ureteropelvic juncti... OMIM:192350
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Hajdu-Cheney Syndrome
Hepatomegaly, Multiple renal cysts, Hypospadias, Splenomegaly ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Hypertriglyceridemia, Polycystic... ORPHA:110
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Ventricular septal defect,... ORPHA:97360
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hydromyelia, Recurrent upper respiratory... OMIM:308205
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Neu-Laxova Syndrome 1
Generalized edema, Renal agenesis, Patent foramen ovale, Ventricular septal defect, Neonatal deat... OMIM:256520
Mednik Syndrome
Hepatic fibrosis, Cholestasis, Death in childhood, Death in infancy, Neonatal death, Cirrhosis OMIM:609313
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1308
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnios, Death in infancy, Neonatal d... OMIM:612289
Peters Plus Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the pulmonary artery, Renal ... ORPHA:709
Chime Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonary valve atresia, Transpos... ORPHA:3474
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth... OMIM:107480
Restrictive Dermopathy 1
Oligohydramnios, Neonatal death, Atrial septal defect, Stillbirth, Polyhydramnios, Ureteral dupli... OMIM:275210
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal death, Death in infancy, Bradyca... OMIM:617248
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Hepatic steatosis, ... OMIM:124000
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Transposition of the great arteries, Atrial septal defect, Dext... ORPHA:1662
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy... ORPHA:199
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Branchiooculofacial Syndrome
Renal cyst, Hypospadias, Renal agenesis OMIM:113620
Mowat-Wilson Syndrome
Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Ventricular septal defect, Bicuspid... ORPHA:261552
Pallister-Killian Syndrome
Aortic valve stenosis, Renal dysplasia, Hypertrophic cardiomyopathy, Polyhydramnios, Ventricular ... OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Uretero... OMIM:164210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet... ORPHA:261537
Pmm2-Cdg
Hepatic fibrosis, Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Aspiration pneumonia, Protei... ORPHA:79318

Histopathology

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

There is no histopathology data for Nek8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nek8.

No publications found that use IMPC mice or data for Nek8.

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