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Gene: Fah MGI:95482

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Gene Summary

Name:
fumarylacetoacetate hydrolase
Synonyms:
swst

Order Alleles

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
abnormal kidney morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Fahem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Fahem1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Fahem1(IMPC)Mbp HOM E15.5 0.00
enlarged heart Fahem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal retina vasculature morphology Fahem1(IMPC)Mbp HET   Early adult 2.67×10-05
abnormal retina blood vessel morphology Fahem1(IMPC)Mbp HET Early adult 8.09×10-05
abnormal blood vessel morphology Fahem1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Fahem1(IMPC)Mbp HET E15.5 0.00
small kidney Fahem1(IMPC)Mbp HET 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
preweaning lethality, complete penetrance Fahem1(IMPC)Mbp HOM   Early adult 0.00
edema Fahem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Fahem1(IMPC)Mbp HET E15.5 0.00
abnormal liver morphology Fahem1(IMPC)Mbp HET Early adult 0.00
enlarged testis Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Fahem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Fahem1(IMPC)Mbp HET Early adult 2.40×10-05

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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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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, Cirrhosis, Hepatic failure, Renal Fanconi syndrome, Enlarged kidney, Elevated... OMIM:276700
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... 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
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... OMIM:605814
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated urinary cytidine, Elevated urinary uridine level OMIM:618477
Hypervalinemia And Hyperleucine-Isoleucinemia
Hyperisoleucinemia, Elevated circulating alanine aminotransferase concentration, Hyperleucinemia,... OMIM:618850
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Tyrosinemia, Type Iii
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... OMIM:276710
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated hepatic transaminase OMIM:143500
Ceroid storage disease
Hepatic failure OMIM:214200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... OMIM:620010
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Death in infanc... OMIM:617156
Rotor Syndrome
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice, Hyperbilir... ORPHA:3111
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasi... OMIM:603358
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Galactosuria, ... OMIM:230350
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Jaundice, Polycystic kidney d... OMIM:613095
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... OMIM:619386
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Elevated hepati... OMIM:619902
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... OMIM:615158
Tyrosinemia, Type I
Hypermethioninemia, Cirrhosis, Hepatic failure, Renal Fanconi syndrome, Enlarged kidney, Elevated... OMIM:276700
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic l... OMIM:602114
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... OMIM:619658
Edinburgh Malformation Syndrome
Failure to thrive, Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Renal insuffici... ORPHA:890
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... ORPHA:882
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:79235
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... OMIM:619232
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Death in... OMIM:617049
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Dent Disease 2
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Proximal tubulopathy,... OMIM:300555
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Galactosemia I
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased ... OMIM:230400
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Nau... OMIM:618549
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Alpha-1-Antitrypsin Deficiency
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly ORPHA:60
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... ORPHA:33402
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... OMIM:603471
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Increased serum bile acid conc... OMIM:147480
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Death in infancy, Glycosuria, Jaundice, Elevated hepatic t... OMIM:613404
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... ORPHA:158057
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Alaninuria, Death in infancy, Elevated hepatic transaminase, Lacticaci... OMIM:616299
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... OMIM:619256
Biliary Atresia, Extrahepatic
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... OMIM:210500
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... ORPHA:79234
Saccharopinuria
Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine concentration, Saccharopinuria, C... OMIM:268700
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... OMIM:616278
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Hypertyrosinemia, Failure to thrive, Hawkinsinuria, 4-Hydroxyphen... OMIM:140350
Isolated Polycystic Liver Disease
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Multiple renal ... ORPHA:2924
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, In... OMIM:174050
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... ORPHA:90003
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abdominal distention, Cholestasis, Hepa... OMIM:618528
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Reduced 5-oxoprolinase level, Increased level of L-p... OMIM:260005
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Cholestasis, Intrahepatic, Of Pregnancy 3
Increased serum bile acid concentration during pregnancy, Jaundice, Abnormal liver function tests... OMIM:614972
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas... OMIM:130650
Threoninemia
Hyperthreoninemia, Hyperthreoninuria OMIM:273770
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... OMIM:235555
Caroli Disease
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,... ORPHA:53035
Yellow Fever
Elevated circulating alanine aminotransferase concentration, Anuria, Pancreatic hyperplasia, Acut... ORPHA:99829
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Elevated urinary 7-biopterin level, Hyperphenylalaninemia OMIM:264070
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Reduced glutathione synthetase level, Increased level of L-pyroglutamic acid in urine, Glyoxalase... OMIM:231900
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran... ORPHA:65682
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Obesity OMIM:234350
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... OMIM:613070
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Periportal fibrosi... OMIM:124000
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Abnormal localization of kidney, Prolonged neonatal... ORPHA:446
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Cholangiocarcinoma
Jaundice, Acholic stools, Biliary tract neoplasm ORPHA:70567
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... ORPHA:79302
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Neoplasm of the nervous system, Elevated alkaline phosphatase of hepatic o... ORPHA:100085
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... OMIM:243300
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:237800
Tyrosinemia, Type Ii
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated hepatic tran... OMIM:616829
Harderoporphyria
Increased urine harderoporphyrin level, Red urine, Neonatal hyperbilirubinemia, Increased circula... OMIM:618892
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Death... OMIM:208085
Hawkinsinuria
Failure to thrive, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Abnormal circ... ORPHA:2118
Isolated Splenogonadal Fusion
Testicular mass, Polysplenia, Bilateral cryptorchidism, Hydrocele testis, Elevated circulating al... ORPHA:457083
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Hypercholesterolemia, Cirrhosis, Hepatic failure, D... OMIM:616828
Progressive Familial Intrahepatic Cholestasis
Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Hypospadias OMIM:245550
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Multicystic kidney dysplasia, Renal dysplasia, Abnormal biliary trac... ORPHA:3032
Peripheral Primitive Neuroectodermal Tumor
Increased circulating lactate dehydrogenase concentration, Jaundice, Neoplasm of the pancreas, Sp... ORPHA:370348
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly OMIM:614876
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... OMIM:301045
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly ORPHA:664
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... OMIM:600803
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... OMIM:605911
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa... OMIM:605479
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... OMIM:214950
Dubin-Johnson Syndrome
Abnormality of the liver, Jaundice, Biliary tract abnormality, Abnormal urinary color, Hepatomega... ORPHA:234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentratio... OMIM:608836
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Increased circula... OMIM:300635
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Elevated ci... OMIM:601847
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... ORPHA:3124
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Galactose Mutarotase Deficiency
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... ORPHA:570422
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Cog7-Cdg
Small for gestational age, Abnormality of the kidney, Jaundice, Elevated hepatic transaminase, He... ORPHA:79333
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic transaminase, El... OMIM:616026
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly ORPHA:75234
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... OMIM:231100
Polyembryoma
Macroorchidism, Gonadal neoplasm, Abnormality of the peritoneum, Neoplasm of head and neck, Eleva... ORPHA:180229
Valinemia
Valinuria, Hypervalinemia OMIM:277100
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Hepatic failure, Cirrhosis OMIM:210050
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... ORPHA:35878
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Purpura, Nephritis, ... OMIM:161950
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Small for gestational age... ORPHA:30391
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Hepatomegaly, Renal hypoplasia, Death... OMIM:604273
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Hepatocellular carcinoma, Portal inflammation, Hepatic steatosis, ... ORPHA:101330
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Hypospadias, Cholestasis, Failure to thrive in infancy ORPHA:1296
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Dysmyelination With Jaundice
Hydroureter, Jaundice, Hypoplasia of penis, Hydronephrosis OMIM:224250
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Bilateral crypto... OMIM:619685
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
African Iron Overload
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... ORPHA:139507
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria OMIM:222730
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia ORPHA:2724
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... OMIM:615415
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614924
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Leber Congenital Amaurosis 1
Hyperthreoninemia, Hyperthreoninuria, Hepatomegaly OMIM:204000
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... ORPHA:64743
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Jaundice, Polycystic kidney dysplasia, Ge... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... OMIM:616974
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Duplicated collecting system... OMIM:617093
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Preeclampsia/Eclampsia 1
Proteinuria, Elevated hepatic transaminase OMIM:189800
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating fer... OMIM:616860
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Cyanosis, Transient Neonatal
Cyanosis, Jaundice, Hepatomegaly OMIM:613977
Coproporphyria, Hereditary
Cutaneous photosensitivity, Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomega... OMIM:121300
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... ORPHA:324575
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Homocitrullinuria, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Acu... OMIM:238970
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice OMIM:262400
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated hepatic transaminase, Bruising susceptibility, Intrahepatic cholest... OMIM:619484
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... OMIM:162000
Peroxisome Biogenesis Disorder 13A (Zellweger)
Elevated circulating alanine aminotransferase concentration, Jaundice, Increased circulating very... OMIM:614887
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Jaundice, Hyperb... ORPHA:400
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Elevated circulating alkaline phosphat... OMIM:613489
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Death in childhood, Splenomegaly, Conjugated hype... OMIM:269920
Narcolepsy 3
Narcolepsy OMIM:609039
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Dark urine OMIM:301015
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Tyrosinosis
Hypertyrosinemia OMIM:276800
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Gout, Choleli... OMIM:232800
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Lung adenocarcinoma,... OMIM:618913
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Decreased circu... OMIM:619481
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat... ORPHA:84081
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Liver Disease, Severe Congenital
Aminoaciduria, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Cholesteatoma, El... OMIM:619991
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy ORPHA:254857
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Glutathione Synthetase Deficiency
Reduced glutathione synthetase level, Increased level of L-pyroglutamic acid in urine OMIM:266130
Ethanolaminosis
Cardiomegaly OMIM:227150
Wilson Disease
Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Bruising s... ORPHA:905
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Relapsing Fever
Increased total bilirubin, Increased circulating lactate dehydrogenase concentration, Acute kidne... ORPHA:91547
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Death in childhood, Elevated circulating creatine kinase concentration OMIM:609560
Familial Male-Limited Precocious Puberty
Macroorchidism, Oligospermia, Precocious puberty, Long penis ORPHA:3000
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carci... OMIM:232220
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Abnorm... ORPHA:79096
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Hepatic fibrosis, Elevated circulating alanine aminotransferase concent... OMIM:278000
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... ORPHA:131
Testicular Germ Cell Tumor
Choriocarcinoma, Teratoma, Embryonal neoplasm, Elevated circulating alpha-fetoprotein concentration OMIM:273300
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria OMIM:238750
Autoimmune Hepatitis
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Dif... ORPHA:2137
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi... OMIM:211600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Skin rash, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, ... OMIM:603552
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia,... OMIM:278300
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hepatic bridging fibrosis OMIM:616719
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... OMIM:614300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hyper... OMIM:201450
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia OMIM:606528
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Beckwith-Wiedemann Syndrome
Gonadoblastoma, Large intestinal polyposis, Hepatoblastoma, Elevated circulating alpha-fetoprotei... ORPHA:116
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Hepatomegaly ORPHA:99978
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Death in infancy, Eczema, Elevated circulating creatine kinase concen... OMIM:272300
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Glycine Encephalopathy
Hyperglycinemia, Hyperglycinuria, Death in infancy OMIM:605899
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Wilson Disease
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... OMIM:277900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive OMIM:612075
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Gout, De... OMIM:232200
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Camptodactyly 1
Increased urinary taurine OMIM:114200
Caroli Syndrome
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormality of the ductus choled... ORPHA:480520
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria, Methylmalonic acidemia, Elevated circulating creatine kina... OMIM:612073
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Feeding difficulties in infancy, Hepatomegaly OMIM:614870
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Wolcott-Rallison Syndrome
Abnormality of the liver, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyperammon... ORPHA:1667
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hematuria, Elevated circul... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... OMIM:614582
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Recurrent otitis media ORPHA:444463
Carnosinemia
Carnosinuria OMIM:212200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... ORPHA:158061
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Elevated... OMIM:134600
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Vomiting, Hepatomegaly OMIM:617872
Interstitial Lung And Liver Disease
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cir... OMIM:615486
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... ORPHA:293964
Meckel Syndrome, Type 8
Ambiguous genitalia, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperech... OMIM:613885
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Episodic ammonia intoxication, Elevated circulating aspartate am... OMIM:207900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating selenium concentration ORPHA:171706
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Nephronophthisis 15
Nephronophthisis, Obesity, Elevated hepatic transaminase OMIM:614845
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Splenomeg... OMIM:611881
Muscular Dystrophy, Cardiac Type
Carnosinuria, Elevated circulating creatine kinase concentration OMIM:309930
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... OMIM:611182
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Death in infancy, Death in child... OMIM:616034
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Congenital Disorder Of Glycosylation, Type Ir
Decreased liver function, Gastroesophageal reflux, Chronic constipation OMIM:614507
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis OMIM:177000
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypermanganesemia With Dystonia 1
Cirrhosis, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubine... OMIM:613280
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Elevated circula... OMIM:613752
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Hyperlipidemia ORPHA:364
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... ORPHA:731
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methionine synthase activity, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia OMIM:250940
Idiopathic Achalasia
Recurrent aspiration pneumonia, Decreased prealbumin level, Weight loss ORPHA:930
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circula... ORPHA:766
Infantile Liver Failure Syndrome 2
Jaundice, Vomiting, Elevated hepatic transaminase, Acute hepatic failure OMIM:616483
Galactosemia
Hepatic failure, Cirrhosis, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice,... ORPHA:352
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Skin rash, Jaundice, Failure to thrive, Hepatomegaly, Exocrine pancreatic insu... OMIM:612714
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Crigler-Najjar Syndrome
Infectious encephalitis, Jaundice, Abnormality of the liver ORPHA:205
Cystinosis
Aminoaciduria, Renal insufficiency, Hypophosphatemia, Hypokalemia, Nephropathy, Proteinuria, Port... ORPHA:213
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Fumarase Deficiency
Aminoaciduria, Hepatic failure, Hyperbilirubinemia, Cholestasis, Cutaneous leiomyoma OMIM:606812
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Phenylketonuria
Aminoaciduria ORPHA:716
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Weight loss, Hepatomegaly, Splenomegaly, B-cell lymphoma ORPHA:86893
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Decreased succinic semialdehyde dehydrogenas... OMIM:271980
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis, Failure to thrive, Hepat... ORPHA:436271
Nephronophthisis 18
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Portal fibro... OMIM:615862
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... OMIM:236270
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Ventricular septal defect, Hypogonadism, External genital hypoplasia, Atrial ... OMIM:615996
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... OMIM:615751
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Optic atrophy, Nephrotic syndrome, Enlarged kidney, Ch... OMIM:617303
Homocarnosinosis
Carnosinuria OMIM:236130
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Hepatic fibrosis, 3-Methylglutaconic aciduria, Hyperalani... OMIM:615273
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Hepatocell... ORPHA:369
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Methylmalonic acidemia OMIM:309541
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Elevated circulat... OMIM:214110
Glutathionuria
Urinary incontinence, Reduced gamma-glutamyltransferase level, Glutathionuria OMIM:231950
Fructose Intolerance, Hereditary
Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Hyperuricemia, Glycosuria, Jaundice, Hy... OMIM:229600
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... OMIM:618858
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria OMIM:174810
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Preeclampsia
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... ORPHA:275555
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Narcolepsy 1
Narcolepsy OMIM:161400
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Aciduria, Elevate... OMIM:617950
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... OMIM:605850
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Argininemia
Portal fibrosis, Oroticaciduria, Diaminoaciduria, Micronodular cirrhosis, Cholestasis, Hepatomega... OMIM:207800
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit... ORPHA:470
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, Hepatome... OMIM:239200
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... OMIM:618641
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Renal Fanconi syndrome, Glycosuria, Hyperphosphaturia, Hepatomegaly, Decreased liv... OMIM:220110
Myh9-Related Disease
Elevated hepatic transaminase, Nephritis, Bruising susceptibility, Nephropathy, Proteinuria, Rena... ORPHA:182050
Mirizzi Syndrome
Cholesterol gallstones, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Pancreatitis... ORPHA:521219
Mantle Cell Lymphoma
Splenomegaly, Weight loss, B-cell lymphoma ORPHA:52416
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hepatitis, Hemoglobinuria, Jaundice, Increased circulating ferritin concentration, ... OMIM:194380
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Abnormality of retinal pigmentation, Ly... ORPHA:858
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Cholecystitis, Hepatomegaly... OMIM:266200
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Skin rash, Decreased urine output, Hyperbilirubinemia, Elevated hepatic tran... ORPHA:542323
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Alg6-Cdg
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Abnormal circulating... ORPHA:79320
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Elevated hepatic trans... ORPHA:829
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia ORPHA:181393
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Renal dysplasia, Bilateral cryptorchidism,... ORPHA:96179
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Abnormality of the pancreas, Skin rash, Jaundice, Hyperbilir... ORPHA:69665
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts OMIM:600666
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Decreased thyroid-stimulating hormone level, Prolonged ... ORPHA:95715
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... OMIM:619355
Avian Influenza
Conjunctivitis, Myelitis, Hepatitis, Acute kidney injury, Elevated hepatic transaminase, Elevated... ORPHA:454836
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Erythroderma, Petechiae, Skin rash, Jaundice, Elevated hepatic transamin... ORPHA:540
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Hyperbilirubi... ORPHA:39812
Combined Oxidative Phosphorylation Deficiency 1
Feeding difficulties, Cholestasis, Hepatomegaly, Fulminant hepatic failure OMIM:609060
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating long cha... OMIM:614886
Sickle Cell Anemia
Osteomyelitis, Unconjugated hyperbilirubinemia, Abnormality of the spleen, Cholestasis, Increased... ORPHA:232
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Hyperbilirubinemia, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:235700
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Death in infancy, Increased hepatic glycogen content, Elevated hepatic iron concen... OMIM:614946
Babesiosis
Hepatic failure, Nausea and vomiting, Jaundice, Anorexia, Hepatomegaly ORPHA:108
Congenital Disorder Of Glycosylation, Type It
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... OMIM:614921
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia ORPHA:3129
Pancreatoblastoma
Jaundice, Elevated maternal serum alpha-fetoprotein, Pancreatic calcification ORPHA:677
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Feeding difficulties, Elevated hepatic transaminase, Hepatomegaly OMIM:246900
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Biventricular ... OMIM:618280
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly ORPHA:466794
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Hyperglycinemia, Increased urine alpha-ketoglutarate concentration, ... ORPHA:79101
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Pancreatic calcification, Jaundice, Abnormal circulating enzyme concentra... ORPHA:676
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Vomiting, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties ORPHA:2394
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Fragile X Syndrome
Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Immunodeficiency 56
Hepatic failure, Cirrhosis, Cholangitis, Recurrent infection of the gastrointestinal tract, Chron... OMIM:615207
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum, Weight loss ORPHA:2023
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Bicornuate uterus... OMIM:608978
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... ORPHA:276580
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Cirrhosis, Familial
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le... OMIM:215600
Protoporphyria, Erythropoietic, X-Linked
Cutaneous photosensitivity, Increased erythrocyte protoporphyrin concentration, Elevated hepatic ... OMIM:300752
Molybdenum Cofactor Deficiency, Complementation Group C
Sulfite oxidase deficiency, Increased urinary taurine, Hypertaurinemia, Molybdenum cofactor defic... OMIM:615501
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Failure to thrive, Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitine ORPHA:79159
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Propionic Acidemia
Hyperglycinemia, Eczema, Increased level of hippuric acid in urine, Hyperammonemia, Hepatomegaly,... OMIM:606054
Glycogen Storage Disease Ixb
Hypoglycemia, Hyperuricemia OMIM:261750
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral... ORPHA:91138
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Splenomegaly ORPHA:848
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Elevated maternal serum alpha-fetoprotein, Death in infancy OMIM:226730
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure OMIM:618567
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Overhydrated Hereditary Stomatocytosis
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:185000
Wolman Disease
Hepatic failure, Nausea and vomiting, Abdominal distention, Malnutrition, Hepatomegaly ORPHA:75233
Coach Syndrome 2
Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Elevated circulating creatinine... OMIM:619111
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Angioedema, Myocarditis, Infectious encephalitis, Weight loss, Neph... ORPHA:139402
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... ORPHA:464329
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Weight loss, ... OMIM:619377
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Death in infancy, Jaundice, Nephritis, Renal cyst, Polycystic... OMIM:208500
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... ORPHA:186
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia ORPHA:464370
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Jaundice, Abnormal renal physiology, Increased blood urea nitrogen, Pr... OMIM:274150
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased methionine synthase activity, Cystathioninemia, Cystathioninuria, Methylmalonic acidemi... OMIM:277380
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration ORPHA:1933
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Punctate keratitis, Complex o... OMIM:557000
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
North American Indian Childhood Cirrhosis
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis OMIM:604901
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency