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
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Hutterite Cerebroosteonephrodysplasia Syndrome
Nephrotic syndrome OMIM:236450
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Stillbirth, Truncu... OMIM:615415
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Anemia, Leukocytosis OMIM:619398
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Right atrial isomerism, Ascending tubular aorta aneurysm... OMIM:270100
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczematoid dermatitis OMIM:614493
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilate... OMIM:306955
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Immunodeficiency 116
Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... OMIM:619902
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa... OMIM:614859
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Immunodeficiency 76
B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lympho... OMIM:619164
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wi... OMIM:617006
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Left Isomerism, Congeni... OMIM:618300
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Bardet-Biedl Syndrome 8
Renal dysplasia, Situs inversus totalis, Hypospadias OMIM:615985
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hepatomegaly, Hypokalemia, Recurrent urinary tract... OMIM:613095
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Eczematoid dermatit... OMIM:269840
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormal renal morphology, Pancreat... ORPHA:1666
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:608644
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Mirror Movements 3
Situs inversus totalis OMIM:616059
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
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
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:620032
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Renal insufficiency, Cardiomyopathy, Nephropat... ORPHA:1909
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis OMIM:615451
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Bil... OMIM:267010
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Renal Tubular Dysgenesis
Polyhydramnios, Proximal tubulopathy, Nephropathy, Oligohydramnios, Tetralogy of Fallot, Multiple... ORPHA:3033
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o... ORPHA:3097
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615482
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal... OMIM:619802
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep... OMIM:249270
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... OMIM:231680
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent lower respiratory tract infections, Abdominal situs inversus, Recurrent... OMIM:618699
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:617092
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:614679
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria OMIM:123540
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m... ORPHA:185
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Dextrocardia OMIM:611884
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:615504
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Situs inversus totalis, Pulmonary insufficiency OMIM:614017
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Mucoid diarrhea, Abnormal... OMIM:615767
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:615505
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis OMIM:613193
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Inflammation of the large intesti... OMIM:619281
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Situs inversus totalis, Recurrent sinusitis OMIM:615481
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Immunodeficiency 70
B lymphocytopenia, Furuncle, Recurrent sinusitis, Decreased proportion of CD4-positive helper T c... OMIM:618969
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammat... OMIM:618108
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Ciliary Dyskinesia, Primary, 18
Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries ORPHA:90301
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul... OMIM:616037
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Multiple renal cysts ORPHA:2924
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Mpdu1-Cdg
Renal cortical cysts, Elevated circulating creatine kinase concentration ORPHA:79323
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Eczematoid dermatitis, De... OMIM:617241
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620438
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Situs inversus totalis, Pneumonia, Recurrent sinusitis OMIM:612444
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory in... OMIM:613807
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Polyhydramnios, Oligohyd... ORPHA:3032
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the large intestin... OMIM:300635
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Ventricular septal defect, Abdominal ... OMIM:619123
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Situs inversus totalis, Dextrocardia OMIM:618063
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:615500
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... 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
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Bronchiectasi... OMIM:615067
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib... OMIM:266900
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... OMIM:603278
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Colonic Atresia
Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val... OMIM:609008
Nephronophthisis
Renal insufficiency ORPHA:655
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency OMIM:611773
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections OMIM:616481
Joubert Syndrome 20
Renal cyst OMIM:614970
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615444
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... OMIM:619113
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Eosinophili... OMIM:617638
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections OMIM:612650
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent respi... OMIM:608647
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Bardet-Biedl Syndrome 17
Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Micro... OMIM:615994
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, Atopic dermatitis, T lymphocytop... OMIM:618806
Nephronophthisis 15
Nephronophthisis OMIM:614845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... OMIM:608836
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly... OMIM:616050
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter, Abdominal situs inversus ORPHA:2604
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614935
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:613808
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:606763
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn... OMIM:604416
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Renal insufficiency, Hypertension, ... OMIM:610205
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Oligomeganephronia
Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ... ORPHA:2260
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... OMIM:615615
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Chronic diarrhea, Crohn's disease, Splenomegaly, Bronchie... OMIM:618394
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease ORPHA:3156
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Renal tubular atrophy, Nephritis, Renal insuff... OMIM:162000
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Hyperechogenic kidneys, Splenomegaly, Renal interstitial fibrosis... OMIM:616217
Familial Renal Glucosuria
Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction ORPHA:69076
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Chronic diarrhea, Crohn's disease, Decreased propor... ORPHA:331235
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Polysyndactyly With Cardiac Malformation
Stillbirth, Polyhydramnios, Renal cyst, Hepatic cysts, Atrial septal defect, Ventricular septal d... OMIM:263630
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, Chro... OMIM:615617
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, De... OMIM:617478
Double Outlet Right Ventricle
Heterotaxy, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarcta... ORPHA:3426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... OMIM:615518
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Situs inversus totalis OMIM:615434
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria... ORPHA:251004
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Death in infancy, Neonatal death, Ventricular septal defect, Cystic... OMIM:613730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hepatomegaly... OMIM:614376
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Pagod Syndrome
Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aortic morphology, Pulmonary artery hy... ORPHA:991
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Polycystic kidney... ORPHA:26791
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Ventric... OMIM:619657
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Polyhydramnios, Hypoplasia of penis ORPHA:990
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal... OMIM:619003
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Abnormal natural killer cell count, Abnormal proportion of CD8-positive... OMIM:212050
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
C Syndrome
Renal cortical cysts, Hepatomegaly OMIM:211750
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:600740
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst OMIM:614862
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly... OMIM:613101
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Abd... OMIM:301074
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... 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
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Fanconi Anemia, Complementation Group O
Miscarriage, Renal cyst, Death in infancy, Abnormal heart morphology, Hydronephrosis, Neonatal de... OMIM:613390
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Arteritis, Abnormal gastrointestinal vascular morphology,... ORPHA:70475
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Enla... OMIM:314390
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Aplasia of posterior communicating artery, Neurogenic bladd... OMIM:613686
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Hypospadias, Recurrent respiratory infections, Patent fo... OMIM:618316
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Meacham Syndrome
Enlarged kidney, Death in infancy, Bicuspid aortic valve, Congenital alveolar dysplasia, Transpos... OMIM:608978
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Elevated circulating long chain fatty acid concentration, Aminoacidu... OMIM:214110
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Elevated circulating creatinine concentration, Pr... ORPHA:275555
Coach Syndrome 1
Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Renal cyst, Splenomegaly, Stage 5 chro... OMIM:216360
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Pulmonary artery atresia, Tetralogy of Fallot ORPHA:1908
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Intestinal obstruction, Liver abscess, Anemia, Acute coli... ORPHA:67
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... ORPHA:314588
Wolf-Hirschhorn Syndrome
Abnormality of the kidney, Abnormality of the gallbladder, Hypospadias, Recurrent respiratory inf... ORPHA:280
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Hepatomegaly, Death in childhood, Polyhydramnios, Renal tubular acidosis, Renal insuf... OMIM:614922
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Hypospadias, Polycy... OMIM:614866
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal... OMIM:601612
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency ORPHA:397715
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of CD4-... ORPHA:543
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Capillary leak, Miscarriage, Lymphedema, Pleural effus... ORPHA:1041
Prune Belly Syndrome
Hydroureter, Recurrent respiratory infections, Renal insufficiency, Abnormality of the bladder, R... ORPHA:2970
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys... OMIM:137920
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancy... OMIM:614700
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Elevated circulating long chain fatty acid concentration, Renal cortic... OMIM:214100
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Organic aciduria, Hypertrophic cardiomyopathy, Death in infancy OMIM:617184
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
Ellis Van Creveld Syndrome
Epispadias, Situs inversus totalis, Abnormality of the kidney, Atrioventricular canal defect, Ren... ORPHA:289
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Renal hypoplasia/apl... ORPHA:2461
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Hypertension, Intestinal ... ORPHA:90038
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypospadias, Galactosuria, Hypergalactosemia, Rena... OMIM:222470
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... OMIM:276700
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Asplenia, Pneumonia OMIM:244400
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy ORPHA:220
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubu... OMIM:617303
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Holt-Oram Syndrome
Abnormal coronary artery origin, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ve... OMIM:142900
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis, Decreased proportion of class-switch... OMIM:614878
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Lymphopenia, Tooth abscess, Sinusitis, Enterocol... ORPHA:2686
Transaldolase Deficiency
Abnormality of the kidney, Cirrhosis, Hydrops fetalis, Coarctation of aorta, Hepatosplenomegaly, ... ORPHA:101028
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria... OMIM:105200
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Uric acid nephrolithias... ORPHA:411536
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Leukopenia, Colitis OMIM:615190
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficiency OMIM:614227
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, He... OMIM:616307
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidn... OMIM:243910
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Increased total bilirubin, Renal hypoplasia, ... ORPHA:84081
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, B lymphocytopenia, Inflammation of the large intestine, Oral leukoplaki... OMIM:620133
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration OMIM:620366
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Polyhydramnios, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, P... OMIM:301056
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Vasculitis... OMIM:617718
Shigellosis
Paralytic ileus, Myocarditis, Anorexia, Abdominal pain, Splenic abscess, Nausea, Abdominal cramps... ORPHA:810
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin concentration, Polycystic kidney dysplasia, Ren... OMIM:610199
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Hallermann-Streiff Syndrome
Congestive heart failure, Abdominal situs inversus ORPHA:2108
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Reduced social reciprocity, Polycystic kidney d... OMIM:606232
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Hepatomegaly, Decre... ORPHA:85450
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Tube feeding, Chronic diarrhea, T lymphocytopenia, Eczematoid dermatitis, Vomiti... OMIM:619510
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hepatomegaly OMIM:617872
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis,... OMIM:300853
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Croh... ORPHA:436159
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts ORPHA:464329
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Chronic rhinitis... OMIM:301082
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Peripheral edema, Pulmonary edema, Hepatomegaly, Recurrent respiratory i... ORPHA:75249
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Proximal tubulopathy, Hepatomegaly, Renal cyst OMIM:602579
Caroli Disease
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Dehydration, Ascites, Exocrine pancreatic insufficiency, Abnormality of t... ORPHA:1667
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Bilateral trilobed lung, Tetralogy of Fallot,... OMIM:613630
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on intravenous n... ORPHA:37042
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia... OMIM:150550
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c... ORPHA:477817
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi... OMIM:154230
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Renal ma... OMIM:601186
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis OMIM:616629
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:91547
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Colitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabs... OMIM:209920
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Increased B cell cou... ORPHA:98813
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Lymphopenia, Thyroiditis, Pulmonary arterial hypertension, Renovas... ORPHA:391487
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Dark urine,... ORPHA:79303
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... ORPHA:731
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p... OMIM:274150
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Increased T cell count, Consti... ORPHA:263665
Lethal Congenital Contracture Syndrome 8
Polyhydramnios, Neonatal death, Death in infancy OMIM:616287
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Bowel irritability, ... OMIM:619381
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating C-reactiv... ORPHA:49041
Isolated Cleft Lip
Situs inversus totalis, Polyhydramnios ORPHA:199302
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Tuberous Sclerosis Complex
Abnormality of the kidney, Abnormal social behavior, Polycystic kidney dysplasia, Renal cell carc... ORPHA:805
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:214
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Anemia, Bradycardia, Diarrhea, Functional abnorma... ORPHA:90051
Lymphatic Malformation 12