Gene Summary

fumarylacetoacetate hydrolase

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 placenta morphology Fahem1(IMPC)Mbp HOM E15.5 0.00
small liver Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Fahem1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Fahem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Fahem1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta vasculature Fahem1(IMPC)Mbp HET E15.5 0.00
enlarged heart Fahem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Fahem1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Fahem1(IMPC)Mbp HET E15.5 0.00
enlarged testis Fahem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Fahem1(IMPC)Mbp HET Early adult 0.00

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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.

Phenotype associated images not available

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.

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

Disease Similarity of
Matching phenotypes Source
Abnormality of urine homeostasis OMIM:260800
Elevated urinary cytidine, Elevated uridine in urine OMIM:618477
Hypervalinemia And Hyperleucine-Isoleucinemia
Hyperleucinemia, Hypervalinemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618850
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Elevated circulating al... ORPHA:247598
Ceroid storage disease
Hepatic failure OMIM:214200
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Abnormality of... OMIM:276710
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Elevated urinary delta-aminolevulinic acid, Hepatocellular ... OMIM:276700
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia OMIM:230200
Rotor Syndrome
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/... ORPHA:3111
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Cholestasis, Increased serum ... OMIM:603358
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Death in infancy, Lacticaciduria, Elevated circulating creatine kinase concentra... OMIM:619386
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... OMIM:602114
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Aminoaciduria, Jaundice ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficiency, Incr... ORPHA:890
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
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
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Failure to thrive OMIM:140350
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase conc... OMIM:617049
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Nephronophthisis, Situs inversus totalis, Pulmonic... OMIM:615382
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Failure to thrive, Cirrhosis, Cholestasis, Hepatic failure, Hyp... OMIM:617156
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... OMIM:618549
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... OMIM:214950
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration OMIM:619256
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Galactosemia I
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased... OMIM:230400
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Abnormal renal physiology, Splenomegaly, Increased circulating ferr... ORPHA:158057
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, M... ORPHA:2924
Saccharopinuria, Citrullinuria, Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine c... OMIM:268700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Hyperprolinemia, Type Ii
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239510
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin, P... OMIM:174050
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Feeding difficulties, Abdominal distention, Cholestasis, Hepatic failure, Elevated ... OMIM:618528
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hyperprolinemia Type 1
Hyperprolinemia, Proteinuria, Prolinuria, Nephropathy ORPHA:419
5-Oxoprolinase Deficiency
Prolinuria, Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Calciu... OMIM:260005
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Nephrocalci... OMIM:130650
Hyperthreoninemia, Hyperthreoninuria OMIM:273770
Cholestasis, Intrahepatic, Of Pregnancy 3
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... OMIM:614972
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Elevated circulating alkaline ... OMIM:235555
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Yellow Fever
Elevated circulating creatine kinase concentration, Anuria, Elevated circulating creatinine conce... ORPHA:99829
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Elevated cir... OMIM:613812
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Halothane Hepatitis
Viral hepatitis, Hepatitis, Obesity, Jaundice OMIM:234350
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Neonatal Hemochromatosis
Increased serum iron, Congenital hepatic fibrosis, Abnormal localization of kidney, Increased cir... ORPHA:446
Biliary tract neoplasm, Acholic stools, Jaundice ORPHA:70567
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Retinitis Pigmentosa 59
Hepatomegaly, Failure to thrive, Micropenis, Elevated hepatic transaminase, Renal insufficiency OMIM:613861
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Depletion of mitochondrial DNA ... OMIM:251880
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice OMIM:312500
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentr... ORPHA:730
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... OMIM:607765
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacet... ORPHA:2118
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, E... OMIM:301045
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Brain neoplasm, Neoplasm of the pancreas, Pancreatitis, Elevated carcinoma anti... ORPHA:370348
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Lambert Syndrome
Jaundice, Hypospadias, Intrahepatic biliary atresia OMIM:245550
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Hyperprolinemia, Type I
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239500
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnorma... ORPHA:3032
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria OMIM:612075
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fi... OMIM:615415
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Abnormal urinary color, Bi... ORPHA:234
Cardiomegaly OMIM:227150
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Cholestatic li... OMIM:613404
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... OMIM:605479
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Neonatal ... OMIM:263200
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Hyperhomocystinemia, Homocystinuria OMIM:236250
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Vomiting, Hepatic steatosis OMIM:617872
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Aminoaciduria, Jaundice ORPHA:33574
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Azotemia, Familial
Azotemia OMIM:109160
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, I... OMIM:300635
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Abnormal heart morphology, Acute kidney injury, Cholestasis, Ne... ORPHA:85445
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Cirrhosis, Familial
Increased level of propylene glycol in blood, Micronodular cirrhosis, Increased level of L-fucose... OMIM:215600
Hypercystinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperammonemia, Citrullinur... ORPHA:3124
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hepatomegaly, Small for gestational age, Excessive wrinkled skin, Failure to thrive, Elevated cir... ORPHA:79333
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Macroorchidism, Gonadal neoplasm, Abnormality of the peritoneum, Neuroectodermal neoplasm, Elevat... ORPHA:180229
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Nephrocalci... ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... OMIM:601847
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Renal tu... OMIM:208085
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis, Abnormal enzyme/coenzyme activity ORPHA:570422
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Feeding difficulties, Gastroesophageal reflux, Elevated hepatic transam... OMIM:616974
Hypervalinemia, Valinuria OMIM:277100
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Precocious puberty, Long penis ORPHA:3000
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Purpura, ... OMIM:161950
Congenital Disorder Of Glycosylation, Type Ir
Decreased liver function, Gastroesophageal reflux, Constipation OMIM:614507
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Cirrhosis, Hepatic failure, Diarrhea, Jaundice ORPHA:75234
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Wilson Disease
Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Hypoparathyroidism, Aminoaciduria, He... OMIM:277900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... OMIM:231680
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Lambert Syndrome
Hypospadias, Failure to thrive in infancy, Intrahepatic biliary atresia, Cholestasis, Jaundice ORPHA:1296
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Aminoaciduria, Prote... OMIM:616026
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter, Jaundice OMIM:224250
Porphyria Cutanea Tarda
Porphyrinuria, Increased circulating ferritin concentration, Decreased hepcidin level, Increased ... ORPHA:101330
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Gonadotropin deficiency, Cholestasis, Adrenocorticotropic hormone deficiency,... OMIM:609734
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria OMIM:222730
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Dysphagia, Hepatic failure ORPHA:2724
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Failure to thrive, Duplicated collecting system, Decreased liver function, Hepati... OMIM:617093
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Hepatic fibrosis, Asplenia, Polysplenia, Bile duct proliferation,... OMIM:208540
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnormal circulating f... ORPHA:567983
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... ORPHA:324575
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Lipoyltransferase 1 Deficiency
Decreased liver function, Death in infancy, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria OMIM:189800
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Weight loss, Cholelithiasis, Spl... ORPHA:53035
Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Hepatic calc... OMIM:608836
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... ORPHA:90003
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Coproporphyria, Hereditary
Hepatomegaly, Cutaneous photosensitivity, Splenomegaly, Increased urinary porphobilinogen, Elevat... OMIM:121300
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Cyanosis, Transient Neonatal
Hepatomegaly, Cyanosis, Jaundice OMIM:613977
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Testicular Germ Cell Tumor
Elevated alpha-fetoprotein, Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Increased circulating... OMIM:616860
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney diseas... OMIM:618913
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Hyperl... ORPHA:1414
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Deat... OMIM:269920
Hemolytic Anemia, Congenital, X-Linked
Dark urine, Jaundice OMIM:301015
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract obstruction... ORPHA:400
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Nephronophthisis 15
Hepatic failure OMIM:614845
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Acute hepatic failure OMIM:615453
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circul... ORPHA:79096
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia, Ele... OMIM:619484
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Facial hemangioma, Nephropathy, Hypercalciuria, Nephroblasto... ORPHA:116
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating selenium concentration, Fasting hypoglycemia, Abnormal circulating insulin l... ORPHA:171706
Hypertyrosinemia OMIM:276800
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Increased body weight, Arthritis, Acute ... ORPHA:905
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Hypertryptophanemia, Tryptophanuria OMIM:600627
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy OMIM:614870
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level OMIM:266130
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Cirrhosis,... OMIM:613489
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy ORPHA:254857
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Hyperinsulinemia OMIM:606528
Glycine Encephalopathy
Death in infancy, Hyperglycinuria, Hyperglycinemia OMIM:605899
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... OMIM:232200
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev... OMIM:619481
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Conjugated... OMIM:210550
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly OMIM:224100
Relapsing Fever
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Incr... ORPHA:91547
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria, Cholelithiasis, Increased total bilirubin, Hyperuricemia, J... OMIM:232800
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia OMIM:238750
Budd-Chiari Syndrome
Hepatomegaly, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecyst... ORPHA:131
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Skin ra... OMIM:603552
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Weight loss, Extrahepatic cholestasis, Jaundice ORPHA:99978
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehy... OMIM:278300
Tiglic Acidemia
Aminoaciduria OMIM:275190
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Vomiting, Protuberant abdomen, El... OMIM:278000
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... OMIM:615862
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Elevated he... OMIM:201450
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Elevated alkaline phosphatase of bone origin, Gl... OMIM:613388
Hyperlysinuria, Cystinuria OMIM:222350
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... OMIM:232220
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Camptodactyly 1
Increased urinary taurine OMIM:114200
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Elevated gamma-glutamyltransferase... OMIM:614582
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated circulatin... OMIM:615486
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Increased inflammatory response, Increased circulating fer... ORPHA:158061
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Heme Oxygenase 1 Deficiency
Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Hematuria, Nephrit... OMIM:614034
Carnosinuria OMIM:212200
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Failure to th... OMIM:220110
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Hyperc... ORPHA:64753
Hyperlysinuria OMIM:236900
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... OMIM:615160
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Hepatic fibrosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemi... OMIM:207900
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Hyperammonemia, Ab... ORPHA:1667
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Reduced red cell pyruvate kinase level, Unconjugated hyperbilirubinemia, El... ORPHA:766
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Elevated circulating creatine kinase concentration, Failure to thrive, Elev... OMIM:615895
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hepatomegaly, Hypergalactosemia, Failure to thrive, Cirrhosis, Increased level of galactitol in p... ORPHA:352
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Failure to th... ORPHA:436271
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hyperhomocystinemia, Homocystinuria, Hypomethioninemia, Decreased methionine synthase activity OMIM:250940
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus,... OMIM:214110
Narcolepsy 7
Narcolepsy OMIM:614250
Portal hypertension, Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephropathy, Amino... ORPHA:213
Fumarase Deficiency
Hyperbilirubinemia, Cholestasis, Hepatic failure, Cutaneous leiomyoma, Aminoaciduria OMIM:606812
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... OMIM:256810
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hepatomegaly, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... OMIM:229600
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Crigler-Najjar Syndrome
Abnormality of the liver, Infectious encephalitis, Jaundice ORPHA:205
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Cholelithias... OMIM:614886
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Aminoaciduria ORPHA:716
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hyperbilirubinemia, Stillbirth, Splenomegaly, Absence of renal corticomedullary dif... OMIM:259720
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperhomocystinemia, Homocystinuria, Hypomethioninemia, Decreased methionine synthase activity OMIM:236270
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties, Decreased liver function OMIM:246900
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Atrioventricular canal defect, Transposition of the great arter... OMIM:314390
Partington Syndrome
Macroorchidism ORPHA:94083
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Idiopathic Achalasia
Weight loss, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Deat... OMIM:617303
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration, Elevate... ORPHA:69665
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Mirizzi Syndrome
Gallbladder perforation, Pancreatitis, Cholelithiasis, Hyperbilirubinemia, Dark urine, Cholestero... ORPHA:521219
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Weight loss, Splenomegaly, Nephropathy ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Diarrhea OMIM:602579
Familial Expansile Osteolysis
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration OMIM:174810
Carnosinuria OMIM:236130
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Vomiting, Jaundice OMIM:616483
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubine... ORPHA:95715
Hepatomegaly, Oroticaciduria, Portal fibrosis, Micronodular cirrhosis, Diaminoaciduria, Hyperammo... OMIM:207800
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Polycystic ovaries,... ORPHA:275555
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Hepatomegaly, Aminoaciduria, Hypophosphatemia, Sple... OMIM:239200
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia OMIM:618120
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Increa... ORPHA:542323
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated urinary N,N-dimethylglycine level, E... OMIM:605850
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Cholestasis, Jaundice OMIM:614887
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia ORPHA:2158
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Jaundice ORPHA:677
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Splenomegaly ORPHA:52416
Trichohepatoenteric Syndrome 2
Hepatomegaly, Hepatitis, Decreased serum iron, Cirrhosis, Colitis OMIM:614602
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Increased circulating ferr... OMIM:194380
Sinusitis, Hodgkin lymphoma, Bronchiectasis, Leukemia, Hypoplasia of the thymus, Lymphoma, Elevat... OMIM:208900
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Elevated circulating gamma-aminobutyric acid concentratio... OMIM:271980
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Myh9-Related Disease
Nephritis, Nephropathy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency, Bruising... ORPHA:182050
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Art... ORPHA:829
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Sickle Cell Anemia
Abnormality of the spleen, Unconjugated hyperbilirubinemia, Elevated circulating creatinine conce... ORPHA:232
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Elevated alpha-fetoprotein, Death in infancy OMIM:208910
Failure to thrive, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentra... ORPHA:79320
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Increased hepatic glycogen content, Elevated circulating creatine k... OMIM:614921
Diaminoaciduria, Hyperammonemia ORPHA:90
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Hypoalbuminemia, Erythroderma, Infectious encephalitis, Petechiae, Abno... ORPHA:540
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Chronic diarrhea, Cirrhosis, Hepa... OMIM:615207
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration ORPHA:79159
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Failure to thrive, Splenomegaly, Skin rash, Exocrine pancreatic ... OMIM:612714
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hormone concentration, Neon... ORPHA:95717
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus ORPHA:181393
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Hyperbilirubine... ORPHA:39812
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic hypoglycemia,... ORPHA:276580
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperbilirubinemia, Absent gallbladder, ... OMIM:615710
Nausea and vomiting, Hepatomegaly, Anorexia, Hepatic failure, Jaundice ORPHA:108
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts OMIM:600666
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Pseudo-Torch Syndrome 1
Hepatomegaly, Petechiae, Failure to thrive, Splenomegaly, Decreased liver function, Elevated hepa... OMIM:251290
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration... OMIM:300752
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice ORPHA:858
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Recurrent hypogly... ORPHA:276556
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Death in infancy, Elevated circulating creatine kinase concentration, Hype... OMIM:619355
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Renal dysplasia, Elevated amniotic fluid alpha-fetoprotein, Bilateral crypt... ORPHA:96179
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Abnormal enzyme/coenzyme activity, Elevated cir... ORPHA:676
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Feeding difficulties, Cholestasis OMIM:609060
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hypersarcosinuria, Hypersarcosinemia ORPHA:3129
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum, Soft tissue sarcoma ORPHA:2023
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Rowley-Rosenberg Syndrome
Right ventricular hypertrophy, Aminoaciduria, Recurrent pneumonia OMIM:268500
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperglycinemia... ORPHA:79101
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Death in infancy OMIM:614946
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Nephritis, Renal c... OMIM:208500
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Vomiting, Feeding difficulties, Hepatic failure, Elevated hepatic transaminase ORPHA:2394
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Portal fibrosis, Hepatic fibros... OMIM:619377
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyperornithinemia OMIM:238970
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal c... ORPHA:186
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Elevated alpha-fetoprotein OMIM:615273
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Hematuria, Arthritis, Splenomegaly, Abnormality of the ... ORPHA:91138
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly, Sarcoma ORPHA:66661
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Failure to thrive, D... OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Hepatic steatosis, Inc... ORPHA:348
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Glycosuria, Failure to thrive ORPHA:2089
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Feeding difficulties OMIM:615597
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Wolman Disease
Nausea and vomiting, Hepatomegaly, Abdominal distention, Hepatic failure, Malnutrition ORPHA:75233
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizu... ORPHA:276575
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hyperalaninemia, Left ventricular hypertrophy, Hep... OMIM:619048
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria, Hepati... ORPHA:549
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Hypoketotic hypoglycemia OMIM:610768
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Angioedema, Infectio... ORPHA:139402
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... ORPHA:79259
Bacterial Toxic-Shock Syndrome
Sinusitis, Hypoalbuminemia, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevate... ORPHA:36234
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure OMIM:618567
Classic Galactosemia
Hepatomegaly, Vomiting, Feeding difficulties, Hepatic failure, Abnormal enzyme/coenzyme activity,... ORPHA:79239
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein OMIM:617243
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Keratoconjunctivitis sicca, Hepatomegaly, Cutaneous photosensitivity, Pancreatitis, Angular cheil... OMIM:260480
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Biliary tract obstruction, Biliary tract neoplas... ORPHA:100086
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Propionic Acidemia
Hepatomegaly, Eczema, Propionyl-CoA carboxylase deficiency, Pancreatitis, Hyperglycinemia, Hypera... OMIM:606054
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Elevated circulating creatine kinase concentration, Cholelithiasis, Cholest... ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Neonatal death, Death in infancy, Hypoglycemia OMIM:618835
Peroxisome Biogenesis Disorder 10B