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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nek8 mutations

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

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

The table below shows human diseases associated to Nek8 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Hutterite Cerebroosteonephrodysplasia Syndrome
Nephrotic syndrome OMIM:236450
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... OMIM:618204
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Combined Immunodeficiency, X-Linked
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Decreased proportion of CD... OMIM:312863
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cystic renal... OMIM:615415
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells, Recurrent o... OMIM:615615
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Diarrhea, Pneumonia, Absence of CD8-positive T cells OMIM:269840
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Atrial r... OMIM:270100
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... OMIM:617006
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... ORPHA:1666
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypospadias, Renal dysplasia OMIM:615985
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Hyperalaninemia, Increased serum pyruvate, Renal cortical cysts OMIM:617668
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Hepatic cysts, Tub... OMIM:263200
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Mirror Movements 3
Situs inversus totalis OMIM:616059
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:608644
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Atrioventricular canal defe... OMIM:616749
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Hydrops fetalis, Nephropathy, Multicystic... ORPHA:1909
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent sinusitis, Dextrocardia, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Renal Tubular Dysgenesis
Nephropathy, Multiple renal cysts, Renotubular dysgenesis, Tetralogy of Fallot, Polyhydramnios, P... ORPHA:3033
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis OMIM:615451
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
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
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Aminoaciduria, Stroke, Arrhythmia, Situs inversus totalis, Ventricular sept... OMIM:249270
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia of p... ORPHA:3097
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Elevated circulating glutaric acid concentration,... OMIM:231680
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Pulmonary insufficiency, Bronchiectasis OMIM:614017
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent upper respiratory tract i... OMIM:618699
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia OMIM:617056
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Immunodeficiency 14B, Autosomal Recessive
Colitis, Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Inflammation of the large in... OMIM:619281
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Immunodeficiency 70
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflammation of the large i... OMIM:618108
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Ciliary Dyskinesia, Primary, 27
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615504
Ciliary Dyskinesia, Primary, 28
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615505
Mpdu1-Cdg
Elevated circulating creatine kinase concentration, Renal cortical cysts ORPHA:79323
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Thrombocytopenia OMIM:616744
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastrointestinal tract, ... ORPHA:911
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Multiple renal cysts ORPHA:2924
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Elevated circulati... OMIM:616733
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, Aplastic anemia... OMIM:300635
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia, Myelomeningocele OMIM:613686
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Primary Ciliary Dyskinesia
Abnormal heart morphology, Double outlet right ventricle, Anomalous pulmonary venous return, Situ... ORPHA:244
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Poly... OMIM:613807
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T ce... OMIM:617241
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:617092
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Ciliary Dyskinesia, Primary, 26
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615500
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... OMIM:615994
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Immunodeficiency 17
Recurrent gastroenteritis, Anoperineal fistula, Chronic oral candidiasis, Eczema, T lymphocytopen... OMIM:615607
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... OMIM:609008
Nephronophthisis
Renal insufficiency ORPHA:655
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... ORPHA:79233
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis OMIM:614874
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Urolithiasis, Uric Acid, Autosomal Dominant
Uric acid urolithiasis independent of gout OMIM:191700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased proportion of class-switched memory B cells, Inflammation of the large... OMIM:615767
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, T lymphocytop... OMIM:618806
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia OMIM:228940
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Splenomegaly, Diffuse alveolar hemorrhage, Episodic vomiting, Feeding d... OMIM:616050
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Familial Visceral Myopathy
Hydroureter, Vesicoureteral reflux, Megacystis, Abdominal situs inversus ORPHA:2604
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Dextrocardia, Bronchiectasis, Re... OMIM:615444
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Sterile abscess, Hepatosplenomegaly, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiecta... OMIM:608647
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly OMIM:608776
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... OMIM:608836
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:612650
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Myoglobinuria, Cy... ORPHA:157
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:614935
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Joubert Syndrome 20
Renal cyst OMIM:614970
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Renal tubular acidosis, Atrial s... OMIM:610205
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Vasculitis, Inflammation of the large intestine, T... OMIM:617718
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, M... ORPHA:228308
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Renal cyst, Renal cortical microcysts OMIM:614866
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Nephronophthisis 15
Nephronophthisis OMIM:614845
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent respir... OMIM:613808
Harrod Syndrome
Renal cortical microcysts, Hypospadias OMIM:601095
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Ulcerative colitis, Chronic dia... OMIM:618394
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Stillbirth, Truncus arteriosus OMIM:274210
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Sudden cardiac death, Multicystic kidney dyspla... ORPHA:991
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Partial atrioventricular canal defect, Polysplenia, Primum atrial septal ... OMIM:619608
Familial Renal Glucosuria
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria ORPHA:69076
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tachycardia... ORPHA:3426
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... ORPHA:331235
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Polyhydramnios, Renal cyst, Still... OMIM:263630
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... OMIM:615518
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int... OMIM:243150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... OMIM:610188
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Polyhydramnios, Hypoplasia of penis ORPHA:990
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Renal neoplasm OMIM:135150
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Enla... OMIM:130650
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Pulmonary hypoplasia, Secundum atrial septal defect OMIM:202650
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creati... OMIM:614376
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... OMIM:220210
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... OMIM:232200
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect,... ORPHA:1908
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... OMIM:613101
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Hypera... ORPHA:26791
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia OMIM:615583
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
C Syndrome
Renal cortical cysts, Hepatomegaly OMIM:211750
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia OMIM:614091
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... OMIM:613390
Mosaic Trisomy 1
Penile hypospadias, Renal cyst, Renal cortical cysts, Micropenis ORPHA:1692
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypo... OMIM:619003
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... ORPHA:1505
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Decreased mean platelet volume, Large vessel vasculitis, Inflammation o... OMIM:301000
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Meacham Syndrome
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:608978
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Lymphocytosis, Abdominal pain, Skin rash, Diarrhea, Inflammation of t... OMIM:301074
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... OMIM:232220
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty a... OMIM:214110
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Neu... OMIM:608809
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... OMIM:601612
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Abnormality of the kidney, Abnormality ... ORPHA:280
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Constrictive pericarditis... ORPHA:67
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... ORPHA:2237
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Multiple sma... OMIM:216360
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Cholestasis, Ventricular septal defect, Cor triatria... OMIM:619534
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, Hydr... OMIM:615287
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Distal Tetrasomy 15Q
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... ORPHA:314588
Burkitt Lymphoma
Abdominal pain, Abnormality of the spleen, Intestinal obstruction, Decreased proportion of CD4-po... ORPHA:543
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Mitral regurgitation, Pulmonary insuff... ORPHA:2326
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Hydrops fetalis, Pulmonary ... ORPHA:90308
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Atrial septal defect, Atrioventricular canal defect, Abnormality of the... ORPHA:289
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Hypospadias, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, ... ORPHA:397715
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia OMIM:236500
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal penis morphology, Abnormality of the upper urinary tract, Abno... ORPHA:2461
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve ORPHA:261290
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... ORPHA:2970
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... OMIM:617303
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:1166
Hydrops Fetalis
Miscarriage, Abnormality of the kidney, Abnormality of the urinary system, Nonimmune hydrops feta... ORPHA:1041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Leukocytosis, Intussusception, Abdominal pain, Peri... ORPHA:90038
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadia... OMIM:214100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbumin... ORPHA:255249
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomegaly, Inflammation of the l... OMIM:614700
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614862
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Eczema, Lymphadenitis, H... OMIM:618935
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Otitis media, Recurrent ski... ORPHA:2686
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insuff... OMIM:614922
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Phelan-Mcdermid Syndrome
Poor eye contact, Abnormality of the kidney, Polycystic kidney dysplasia, Impaired social interac... OMIM:606232
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, U... OMIM:614878
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Elevated urinar... OMIM:276700
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, He... OMIM:616307
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level OMIM:300539
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Transaldolase Deficiency
Atrial septal defect, Abnormality of the kidney, Cirrhosis, Hydrops fetalis, Hepatosplenomegaly, ... ORPHA:101028
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Renal cyst, Polycystic kidney dysplasia, Pancreatic cysts OMIM:610199
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Hypospadias, Abnormality of iron homeostasis, Hypermethioninemia, Hyp... OMIM:222470
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Abscess, Vomiting, Myocarditis, Uveiti... ORPHA:810
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Esophageal stenosis OMIM:615190
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hepatosple... ORPHA:84081
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Recurrent bronchitis, Pneumonia, Bronchiectasis, Asplenia OMIM:244400
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... OMIM:105200
Hallermann-Streiff Syndrome
Congestive heart failure, Abdominal situs inversus ORPHA:2108
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Hepatomegaly, Micropenis, Pulm... OMIM:301056
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Pancreatic cysts ORPHA:464329
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eosinophilia, Eczema, Subarachno... OMIM:243700
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Tube feeding, Lymphopenia, Eczema, Vomiting, T lymphocytopenia, Villous atrophy, ... OMIM:619510
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posit... OMIM:300853
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Villous atrophy, Protracted diarrhea, Chronic mucocutane... OMIM:209920
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Hepatomegaly, Hypoalbuminemia, Proximal tubulopathy OMIM:602579
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Caroli Disease
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Wolcott-Rallison Syndrome
Double outlet right ventricle, Chronic kidney disease, Exocrine pancreatic insufficiency, Atrial ... ORPHA:1667
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Eczematoid derm... ORPHA:37042
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Elevated circulating C-reactive protein conce... ORPHA:449395
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased pro... ORPHA:2442
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, Diarrhea, B lymphocytopenia, Intermittent thromb... OMIM:150550
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... ORPHA:477817
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertens... ORPHA:391487
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Immunodeficiency 22
Diarrhea, Decreased proportion of CD4-positive helper T cells, Panniculitis OMIM:615758
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Hepatomegaly OMIM:607361
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrourete... OMIM:212093
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Reticulocytosis, Abnormal propor... ORPHA:3261
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... ORPHA:91547
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Vasculitis, Inflammation of the large intestin... ORPHA:324964
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Decreased pr... OMIM:619381
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Isolated Cleft Lip
Situs inversus totalis, Polyhydramnios ORPHA:199302
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Multicystic kidney dysplasia, Ureteral duplication, Access... ORPHA:564
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele ORPHA:2031
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Enterocolitis, Leukocytosis, Splenomegaly, Tachyc... ORPHA:90051
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency OMIM:300323
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst,... ORPHA:79303
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Sweet Syndrome
Oligoarthritis, Neutrophilia, Leukocytosis, Pustule, Sterile abscess, Acne inversa, Myositis, Inf... ORPHA:3243
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease OMIM:618061
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Lymphopenia, Otitis media, Eczema, Diarrhea, Absent microvilli on the surface of perip... OMIM:600903
Tuberous Sclerosis Complex
Chronic kidney disease, Abnormal social behavior, Abnormality of the kidney, Renal angiomyolipoma... ORPHA:805
Joubert Syndrome
Situs inversus totalis ORPHA:475
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... DECIPHER:81
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
H Syndrome
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia ORPHA:168569
Rhyns Syndrome
Chronic kidney disease, Renal insufficiency, Nephronophthisis OMIM:602152
Glycogen Storage Disease Iv