Gene Summary

Name:
BicC family RNA binding protein 1
Synonyms:
jcpk,  Bic-C

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Bicc1em1(IMPC)Mbp HET Early adult 1.43×10-08
small kidney Bicc1em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Bicc1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Bicc1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal embryo turning Bicc1em1(IMPC)Mbp HOM E9.5 0.00
edema Bicc1em1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Bicc1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Bicc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart looping Bicc1em1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

Gross Morphology Embryo E9.5

Images

27 Images

Gross Morphology Embryo E14.5-E15.5

Images

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Human diseases caused by Bicc1 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 Bicc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730

The table below shows human diseases predicted to be associated to Bicc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis OMIM:614844
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r... ORPHA:2924
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Mirror Movements 3
Situs inversus totalis OMIM:616059
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... OMIM:231060
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
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
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Abdominal distention OMIM:174050
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice ORPHA:313906
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct prol... OMIM:208540
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia OMIM:211890
Bardet-Biedl Syndrome 8
Hypospadias, Situs inversus totalis, Renal dysplasia OMIM:615985
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Glycosuria, Renal tubu... OMIM:614817
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Vomiting, Malnutriti... ORPHA:85445
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Wolman Disease
Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly OMIM:620151
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Situs inversus totalis, Dextrocardia OMIM:619607
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:602114
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Green urine, Decreased liver function OMIM:614156
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Renal insufficiency, Hyperammonemia, Lethargy, Hepatomegaly ORPHA:28
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Gcgr-Related Hyperglucagonemia
Abdominal pain, Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst... OMIM:616307
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Chronic diarrhea, Splenomegaly, Enlarged kidney OMIM:615285
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre... ORPHA:369
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Malabsorption, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria OMIM:238750
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist... ORPHA:521219
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... OMIM:613095
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Ketamine-Induced Biliary Dilatation
Abdominal pain, Dysuria, Abnormal biliary tract morphology ORPHA:293807
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... OMIM:267010
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Lipedema
Edema OMIM:614103
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis OMIM:615872
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtrat... ORPHA:94088
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Feeding difficulties in infancy, Decreased liver function OMIM:614870
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Anorexia, Elevated circulating aspartate aminotransferase concentration, Hyperglyc... OMIM:619386
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function OMIM:600666
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio... ORPHA:103907
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Campomelia, Cumming Type
Multicystic kidney dysplasia, Death in infancy, Multiple renal cysts, Hepatomegaly, Pancreatic cy... ORPHA:1318
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency, Fatal liver failure in infancy ORPHA:254857
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Primary Effusion Lymphoma
Abdominal pain, Abnormal peritoneum morphology, Abdominal distention ORPHA:48686
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis OMIM:615481
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus... ORPHA:3097
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta... ORPHA:53035
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial ... OMIM:249270
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis OMIM:612518
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis OMIM:615451
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis OMIM:617092
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic ki... OMIM:173900
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... OMIM:615415
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Persistent left superior vena cava, Transposition ... OMIM:314390
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Splenomegaly, Nausea and vomiting, Lethargy, Pancreatitis, A... ORPHA:79312
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis OMIM:613193
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Nausea and vomiting, Lethargy, Pa... ORPHA:289916
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... ORPHA:26792
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardio... OMIM:620642
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis, Nephrolithiasis, Lethargy, Hypercalciuria... OMIM:143880
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Cirrho... OMIM:215600
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Malabsorpti... ORPHA:79301
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy, Feeding difficulties, Episodic vomiting OMIM:618224
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Diarrhea, Vomiting, Renal insufficiency, Hyperuricemia, ... ORPHA:469
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, High pal... OMIM:620045
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Death in infancy, Prote... OMIM:208500
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Renal hypoplasia, Abdominal situs inversus, Ureteral ste... OMIM:270100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Ciliary Dyskinesia, Primary, 18
Abdominal situs ambiguus, Situs inversus totalis OMIM:614874
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis OMIM:615504
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab... ORPHA:480520
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Ciliary Dyskinesia, Primary, 51
Situs inversus totalis OMIM:620438
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Elevated circulatin... OMIM:608836
Severe Canavan Disease
Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto... ORPHA:314911
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Diarrhea, Dicarboxylic acidur... OMIM:255120
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici... OMIM:619991
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Renal insufficiency, Congenital nephrot... OMIM:256300
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis OMIM:612444
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis OMIM:615505
Dextrocardia
Abnormality of abdominal situs, Abnormal heart morphology, Abnormality of the ureter, Situs inver... ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating creatinine concentration, Hepatic steatosis, Incr... OMIM:617872
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... OMIM:615994
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis OMIM:616481
Adiposis Dolorosa
Depression, Abdominal distention, Constipation OMIM:103200
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Glucose-Galactose Malabsorption
Vomiting, Diarrhea, Malnutrition, Hyperactive bowel sounds, Renal insufficiency, Nephrolithiasis,... ORPHA:35710
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis OMIM:620197
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis OMIM:610688
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Acrocephalopolydactyly
Abnormal renal morphology, Hepatosplenomegaly, Protuberant abdomen ORPHA:221054
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ... OMIM:614922
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Vomiting, Hyperammonemia, Elevated circu... OMIM:600649
Central Diabetes Insipidus
Diarrhea, Depression, Anorexia, Nausea and vomiting, Hyponatremia, Lethargy, Nocturia ORPHA:178029
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Abdominal distention, Vomiting, Dicarbox... OMIM:613070
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Coach Syndrome 3
Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... OMIM:619113
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis OMIM:612650
Von Hippel-Lindau Syndrome
Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cyst... OMIM:193300
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Right aortic arc... OMIM:608978
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus OMIM:615542
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Patent ductus arteriosus, Dextrocardia, Renal hypoplasia/aplasia ORPHA:2863
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ... ORPHA:284
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Abdominal distention, Hepatomeg... ORPHA:75233
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Dica... OMIM:201475
Small Bowel Atresia
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... ORPHA:1201
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Nausea and vomiting, Lethargy, Pancreatitis, Hepatomegaly ORPHA:27
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Hypokalemia, Lethargy, Anore... OMIM:611590
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis OMIM:615500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Lethargy, Hepa... OMIM:246900
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Poor suck, Dicarboxylic aciduria OMIM:615026
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Renal hypoplasia/aplasia, Ventricular septal def... ORPHA:1926
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Abdominal pain, Hepa... ORPHA:234
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Porphyria Due To Ala Dehydratase Deficiency
Depression, Diarrhea, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porph... ORPHA:100924
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Diarrhea, Vomiting, Dicarboxylic aciduria, Elevate... OMIM:212140
Glycine Encephalopathy 1
Hyperglycinuria, Lethargy, Hyperglycinemia OMIM:605899
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Anorexia, Cholecystitis, Intermittent jaundice, Biliary tract obstruction... ORPHA:100086
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Abdominal distention, ... ORPHA:2088
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysp... OMIM:613730
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias OMIM:245550
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C... ORPHA:84085
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Hyperammonemia, Acute hyperammonemia, Lethargy, Hyperglutaminemia, Hyperalani... ORPHA:927
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... OMIM:617056
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypophosphatemia, Elev... OMIM:227810
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Glucose/Galactose Malabsorption
Glycosuria, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea OMIM:606824
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen, Enlarged kidney, Nephroblastoma OMIM:618272
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pancreatic cy... ORPHA:464329
Desmoplastic Small Round Cell Tumor
Abdominal distention, Ileus, Nausea and vomiting, Testicular neoplasm, Abnormal peritoneum morpho... ORPHA:83469
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hype... OMIM:251000
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Lethargy, Protein a... OMIM:238970
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Vomiting, Acu... OMIM:210200
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Protuberant abdomen, Enlarged kidney, Cy... OMIM:608022
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Citrullinemia, Classic
Vomiting, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Lethargy, Cirrhosis, Hypoargininemia... OMIM:215700
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Peritonitis, Mesenteric cyst, Abdominal distention, Ab... ORPHA:314473
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, N... OMIM:613686
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Neonatal death, Hydronephrosis,... OMIM:613390
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal... OMIM:155310
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Abdominal colic, Urinary retention, Recurr... ORPHA:976
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Truncus arteriosus, Ventricular septal d... ORPHA:3426
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... OMIM:162000
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Early Myoclonic Encephalopathy
Lethargy, Dysphagia, Feeding difficulties, Poor suck ORPHA:1935
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis OMIM:614935
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Dihydropyrimidinase Deficiency
Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated circulating ... OMIM:222748
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase con... ORPHA:247585
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Feeding difficulties, Elevated urinary sulfatide level, Lethar... OMIM:233910
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:275555
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy... OMIM:220210
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,... ORPHA:156
Thoracoabdominal Syndrome
Renal agenesis, Transposition of the great arteries, Ectopia cordis, Hypospadias, Patent ductus a... OMIM:313850
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomit... ORPHA:298
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Vomiting, Increased level of hippur... OMIM:248600
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis OMIM:613808
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Nephronophthisis
Renal insufficiency ORPHA:655
Peritoneal Cystic Mesothelioma
Abdominal pain, Peritonitis, Constipation, Abdominal distention ORPHA:168816
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Hep... OMIM:613861
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Nephrosialidosis
Pericardial effusion, Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Diarrhea, Vomiting, Renal cyst, Cirrhosi... OMIM:602579
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Vomiting ORPHA:622
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, At... OMIM:179613
Pancreatoblastoma
Vomiting, Diarrhea, Pancreatic calcification, Abdominal pain, Abdominal distention, Jaundice ORPHA:677
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... ORPHA:562639
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, A... OMIM:603903
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Vomiting, Oroticaciduria, Elevated circulating aspartate aminotr... OMIM:207900
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis OMIM:608647
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Diarrhea, Abdominal distention, Anorexia... ORPHA:100085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention, Hypoperist... OMIM:619365
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Vomiting, Acute hepatic failure, Hyperam... OMIM:616483
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Diarrhea, Vomiting, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhom... OMIM:250940
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Diarrhea, Incr... OMIM:278000
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... OMIM:615862
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn... ORPHA:94059
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice, Hemoglobinuria OMIM:194380
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Diarrhea, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creat... ORPHA:54057
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... OMIM:301068
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Hepatic steatosis, Hypophosphatemia, Cirrhosis, Proximal renal tubular acidos... OMIM:229600
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... ORPHA:85450
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Malabsorption, Villous atrophy, Abnormal... ORPHA:95427
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Elevated circulating hepatic transaminase concentration, Feeding difficulties in infanc... OMIM:610498
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Methylmalonic Acidemia With Homocystinuria
Lethargy, Feeding difficulties ORPHA:26
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Diarrhea, Vomiting, Decreased liver function, Cholestasis, Elevated circulating ... OMIM:608104
Propionic Acidemia
Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Hyperglycinemia, Hyperammon... OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Hyperprolinemia, Cardiomegaly, Lethargy,... OMIM:619064
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy, Constipation, Feeding difficulties in infancy, Prolonged n... ORPHA:95717
Athyreosis
Macroglossia, Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia, N... ORPHA:673
Developmental And Epileptic Encephalopathy 92
Lethargy, Feeding difficulties OMIM:617829
Chylomicron Retention Disease
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, A... ORPHA:71
Malignant Peritoneal Mesothelioma
Abdominal pain, Peritonitis, Ileus, Abdominal distention ORPHA:168811
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Gastrostomy tube feeding in infancy, Hydro... ORPHA:83617
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Glycosuria, Hyperlipidemia, L... ORPHA:2089
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Glutaric Acidemia Type 3
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Lethargy, Abnorma... ORPHA:35706
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Nephroblastoma, Hydr... ORPHA:314588
Babesiosis
Hepatic failure, Depression, Renal insufficiency, Splenomegaly, Nausea and vomiting, Anorexia, He... ORPHA:108
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Vomiting, Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperamm... OMIM:311250
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Nodular goiter, Dysphagia, Prim... ORPHA:1332
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycystic... ORPHA:1988
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Poland Syndrome
Dextrocardia OMIM:173800
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... ORPHA:3156
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Situs inversus totalis ORPHA:990
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Abnormality of the kidney OMIM:615982
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Feeding difficulties, Lethargy, Hepatomegaly, Increased C-p... ORPHA:276556
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Feeding difficulties, Focal pancreatic islet hyperplasia, L... ORPHA:276575
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomocystinemia, Methylm... OMIM:236270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase conce... OMIM:618120
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Developmental And Epileptic Encephalopathy 40
Lethargy, Feeding difficulties OMIM:617065
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Vomiting, Hyperammonemia, Lethargy, Low plasma citrulline, Protein avoidance, Hypoargininemia, Ep... OMIM:237300
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Acute Intermittent Porphyria
Depression, Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary po... ORPHA:79276
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Renal hypoplasia/aplasia,... ORPHA:1166
Citrullinemia Type I
Hepatic failure, Gastroesophageal reflux, Vomiting, Hyperammonemia, Lethargy, Elevated plasma cit... ORPHA:247525
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia OMIM:614815
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hypophos... ORPHA:263455
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Decreased liver function, Hepatosplenomegaly, Abnormality o... ORPHA:231222
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Abnormality of the ... ORPHA:449395
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Cholestasis, Hepatosplenomegaly, Stage 5... OMIM:266920
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea... OMIM:614883
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Decreased liver function, 3-Methylglutac... OMIM:618329
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... ORPHA:656
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Lysinuric Protein Intolerance
Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis... ORPHA:470
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Feeding difficulties in infancy, Dysphagia OMIM:160900
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Malabsorption, Absent gallbladder... OMIM:615710
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cryptorchidism, Death in childhood, Hypoplasia of the thymus, Hepatomegaly, Jaundi... OMIM:214110
Mpdu1-Cdg