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Gene: Fah MGI:95482

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Gene Summary

Name:
fumarylacetoacetate hydrolase
Synonyms:
swst

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Fahem1(IMPC)Mbp HOM E15.5 0.00
enlarged heart Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal retina blood vessel morphology Fahem1(IMPC)Mbp HET Early adult 2.50×10-05
abnormal blood vessel morphology Fahem1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal retina vasculature morphology Fahem1(IMPC)Mbp HET   Early adult 2.63×10-06
abnormal kidney morphology Fahem1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Fahem1(IMPC)Mbp HET Early adult 0.00
edema Fahem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Fahem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Fahem1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Fahem1(IMPC)Mbp HET E15.5 0.00
abnormal testis morphology Fahem1(IMPC)Mbp HET Early adult 0.00
small kidney Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Fahem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Fahem1(IMPC)Mbp HOM   Early adult 0.00
small liver Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Fahem1(IMPC)Mbp HET Early adult 0.00
enlarged testis Fahem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Fahem1(IMPC)Mbp HET Early adult 6.27×10-06

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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

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Hypervalinemia And Hyperleucine-Isoleucinemia
Hyperisoleucinemia, Hypervalinemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:618850
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Maleylacetoacetate Isomerase Deficiency
Decreased liver function OMIM:617596
Tyrosinemia, Type Iii
Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro... OMIM:276710
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Ceroid storage disease
Hepatic failure OMIM:214200
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia OMIM:230200
Rotor Syndrome
Bilirubinuria, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermi... ORPHA:3111
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, He... OMIM:619386
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated... OMIM:615158
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E... OMIM:251880
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Nephropathy, Chronic kidney disease, Elevated circulating hepatic tran... OMIM:602114
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Hepato... ORPHA:402823
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hydroxykynureninuria
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Combined Low Ldl And Fibrinogen
Elevated circulating aspartate aminotransferase concentration, Decreased LDL cholesterol concentr... OMIM:620364
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, D... OMIM:617049
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu... OMIM:230400
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat... OMIM:300555
Cerebral Creatine Deficiency Syndrome 3
Reduced tissue arginine:glycine amidinotransferase activity, Organic aciduria, Failure to thrive OMIM:612718
Cholestasis, Progressive Familial Intrahepatic, 4
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma OMIM:615878
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly,... OMIM:618549
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hawkinsinuria
Failure to thrive, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphe... OMIM:140350
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lymphoma, Hematological neoplasm, A... ORPHA:158057
Wolman Disease
Reduced lysosomal acid lipase activity, Vomiting, Acute hepatic failure, Abdominal distention, He... OMIM:620151
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... OMIM:614972
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, In... OMIM:174050
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Cryptorchi... OMIM:130650
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Reduced circulating 5-oxoprolinase activity, Increased level of ... OMIM:260005
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin... OMIM:124000
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hyperprolinemia Type 1
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria ORPHA:419
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... ORPHA:99829
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Lipedema
Edema OMIM:614103
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth... OMIM:231900
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration, Congenita... ORPHA:446
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... OMIM:616829
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Hawkinsinuria
Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacet... ORPHA:2118
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias OMIM:245550
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of... OMIM:614924
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehydrogenase concentrat... ORPHA:370348
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Hepatic failure, Splenomegaly ORPHA:664
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Intermittent jaundice OMIM:179700
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Hyperprolinemia, Type I
Hyperprolinemia, Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mi... OMIM:609560
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi... ORPHA:234
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl... OMIM:614817
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Decreased activity of mitochondrial ATP synthase complex, Death ... OMIM:604273
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:601847
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Reduced circulating alpha-1-antitrypsin concentration, Hepat... ORPHA:60
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Generalized aminoaciduria, Elevated gamma-glutamyltransfe... OMIM:227810
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E... ORPHA:79333
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme conc... ORPHA:3124
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Decreased liver... ORPHA:570422
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hematologic... ORPHA:101330
Polyembryoma
Gonadal neoplasm, Neoplasm of head and neck, Abnormal peritoneum morphology, Macroorchidism, Neur... ORPHA:180229
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr... OMIM:617093
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... ORPHA:839
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrahepatic biliary atresia, Jaundice, Hypospadias ORPHA:1296
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Abnormal h... ORPHA:2088
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration OMIM:189800
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Bilateral cryptorchidism, Elevated circulating aspartate aminotransfera... OMIM:619685
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... ORPHA:85445
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... OMIM:232800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia OMIM:204000
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-... OMIM:121300
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level, Reduced mitochondrial acetyl-CoA acetyltra... OMIM:203750
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level OMIM:229100
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia ORPHA:2724
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria OMIM:222730
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Hyperuri... OMIM:162000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Homoc... OMIM:238970
Combined Oxidative Phosphorylation Deficiency 30
Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Decreased liver function, Elev... OMIM:616974
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa... OMIM:619991
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo... OMIM:614887
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro... ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Infantile Sialic Acid Storage Disease
Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hype... OMIM:269920
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice OMIM:262400
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, Ec... OMIM:261600
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... ORPHA:324575
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Dark urine OMIM:301015
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... ORPHA:400
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma, Elevated circulating alpha-fetoprotei... OMIM:273300
Tyrosinosis
Hypertyrosinemia OMIM:276800
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Megalencephaly
Macroorchidism, Long penis, Atrial septal defect ORPHA:2477
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy ORPHA:254857
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail... ORPHA:905
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Xanthinuria, Type I
Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi... OMIM:278300
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Ethanolaminosis
Cardiomegaly OMIM:227150
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Relapsing Fever
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:91547
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertrigl... OMIM:603552
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Abnormal pancreas morph... ORPHA:116
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level OMIM:266130
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Abnormal circulating arginine concentration, Abnormal circulating glycine conc... ORPHA:79096
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia ORPHA:673
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ... OMIM:207900
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ... OMIM:613489
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly OMIM:224100
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Hypophosphatemic rickets, Stage 5 chronic kidney disease, Lung adenoca... OMIM:618913
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatomegaly, Hepatic failure, Hepatic fibrosis OMIM:616719
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Phenylketonuria
Phenylalaninuria, Hyperphenylalaninemia, Eczematoid dermatitis ORPHA:716
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intra... OMIM:615486
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Death in infancy OMIM:605899
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Sulfite Oxidase Deficiency, Isolated
Eczematoid dermatitis, Sulfite oxidase deficiency, Sulfocysteinuria, Decreased urinary sulfate, D... OMIM:272300
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Decreased liver function OMIM:614870
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Chondroitin sulfate ex... OMIM:615273
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... ORPHA:449395
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Hyperlysinemia, Cystinuria, Ornithinuria, Argininuria, Homocitr... OMIM:238700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Camptodactyly 1
Increased urinary taurine OMIM:114200
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... OMIM:614582
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss, Decreased circulating prealbumin concentration ORPHA:930
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Vomiting, Hepatic steatosis OMIM:617872
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:613752
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... OMIM:614034
Congenital Disorder Of Glycosylation, Type Ir
Gastroesophageal reflux, Decreased liver function, Chronic constipation OMIM:614507
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Abnormality of the mitoc... OMIM:214110
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... OMIM:612714
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Glycogen Storage Disease Xii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... OMIM:611881
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... OMIM:613885
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Glutathionuria
Urinary incontinence, Reduced gamma-glutamyltransferase level, Reduced tissue gamma-glutamyltrans... OMIM:231950
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Carnosinemia
Carnosinuria OMIM:212200
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration, Nephronophthisis OMIM:614845
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating selenium concentration, Fasting hypoglycemia ORPHA:171706
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Decr... OMIM:271980
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Vomiting, Elevated circulating hepatic transaminase concentration OMIM:616483
Cystinosis
Nephropathy, Aminoaciduria, Portal hypertension, Renal insufficiency, Renal tubular dysfunction, ... ORPHA:213
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver, Infectious encephalitis ORPHA:205
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Failure to thrive, Decreased liver function, Glycosuria, Hyperphosphaturia, Renal ... ORPHA:436271
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Hyperammonemia, Hyperargini... OMIM:207800
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Glycosuria, Transi... OMIM:229600
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... OMIM:619355
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Hepatomegaly, Breast carcinoma ORPHA:86893
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Chorioretinal hypopigmentation, Optic atrophy, Bon... OMIM:617303
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... OMIM:235700
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Abdominal obesity, Microphallus, Premature skin wrinkling ORPHA:631
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Death in childhood, Death in infancy, Increased hepatic glycogen content, Elevated... OMIM:614946
Nephronophthisis 18
Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c... OMIM:615862
Muscular Dystrophy, Cardiac Type
Carnosinuria, Elevated circulating creatine kinase concentration OMIM:309930
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Hypomethioninemia... OMIM:236270
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... OMIM:220110
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Neonatal hyperbilirubinemia, Micropenis, C... ORPHA:3363
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity, Failure to thrive OMIM:250620
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Bruising suscept... ORPHA:182050
Avian Influenza
Hypoalbuminemia, Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concen... ORPHA:454836
Hartnup Disorder
Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Eleva... ORPHA:69665
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia, Methylmalonic acidemia OMIM:309541
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly ORPHA:100024
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Hypomethioninemia... OMIM:250940
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Abnormality of the liver, Abnormal circulating enzyme concent... ORPHA:79320
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... OMIM:617950
Homocarnosinosis
Carnosinuria OMIM:236130
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Familial Expansile Osteolysis
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration OMIM:174810
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Bilateral cryptorchidism, Decreased response to growth... ORPHA:96179
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... ORPHA:858
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly ORPHA:52416
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Abnormal circul... ORPHA:79101
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome... OMIM:266200
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark... ORPHA:521219
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Splenomegaly, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calci... OMIM:239200
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi... OMIM:614886
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin... ORPHA:542323
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function OMIM:600666
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Elevated urine fum... OMIM:606812
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Hepatomegaly, Fulminant hepatic failure, Feeding difficulties OMIM:609060
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Hepatomegaly, Steatorrhea ORPHA:75233
Babesiosis
Hepatic failure, Nausea and vomiting, Anorexia, Hepatomegaly, Jaundice ORPHA:108
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated urinary N,N-dimethylglycine leve... OMIM:605850
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Cutaneous photosensitivi... OMIM:300752
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h... ORPHA:139402
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Immunodeficiency 56
Hepatic failure, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryp... OMIM:615207
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Vomiting, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... ORPHA:2394
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia ORPHA:3129
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Feeding difficulties, Elevated circulating hepatic transaminase concentration, Decr... OMIM:246900
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Increased level ... OMIM:215600
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis ORPHA:848
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Eczematoid dermatitis, Propionyl-CoA ... OMIM:606054
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Failure to thrive, Renal insufficiency, ... OMIM:613861
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure OMIM:618567
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, H... OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami... OMIM:170100
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre... ORPHA:676
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypogly... ORPHA:276556
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology ORPHA:2023
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ... ORPHA:263501
Legionnaires Disease
Hepatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Hyponatremia, Hematuria, P... ORPHA:549
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Decreased ... OMIM:616034
Molybdenum Cofactor Deficiency, Type C
Hypouricemia, Increased urinary taurine, Sulfite oxidase deficiency, Hypocystinemia, Neonatal dea... OMIM:615501
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:95717
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Death in infancy, Prote... OMIM:208500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Maternal diabetes, Fasting ... ORPHA:276580
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ... OMIM:608978
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Abn... ORPHA:79239
2P21 Microdeletion Syndrome
Cystinuria, Mitochondrial respiratory chain defects, Hypocalcemia, Nephrolithiasis ORPHA:163693
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Low Phospholipid-Associated Cholelithiasis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Biliary cirrh... ORPHA:69663
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism