Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SEC61 translocon subunit alpha 1
Synonyms:
Sec61a

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sec61a1 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 Sec61a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056

The table below shows human diseases predicted to be associated to Sec61a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperinsulinemia, Mater... OMIM:604367
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hypocalcemia... OMIM:612526
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Elev... OMIM:606069
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperinsulinemi... OMIM:151660
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Loss... ORPHA:79083
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Sk... ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Reduc... ORPHA:363400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Precocious... ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Polycystic ovaries... ORPHA:79084
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P... OMIM:231100
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Insulin resistance... OMIM:613877
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc... ORPHA:435660
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero... OMIM:619868
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... OMIM:278000
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Mody
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Glucose intolerance, Ab... ORPHA:552
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure OMIM:261650
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins... ORPHA:79086
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:613313
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypoglycemia, Hyper... OMIM:617872
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Failu... ORPHA:79301
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Left ... OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276575
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male... OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fib... ORPHA:2348
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler... OMIM:235200
Donohue Syndrome
Severe failure to thrive, Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or activity, Increased ... ORPHA:79237
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated ci... OMIM:269600
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse p... ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:617049
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Elevated circulating acylcarnitine concentration, Hepati... ORPHA:26792
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia, Myopathy ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset ... ORPHA:324575
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbum... OMIM:602579
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Hepatocellular carcinoma,... ORPHA:465508
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Limb hy... ORPHA:263501
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Limb hypertonia... OMIM:613489
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma, Reduced uroporphyrinogen decarboxylase activity OMIM:176100
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, Elevat... ORPHA:98908
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite... OMIM:615710
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased circulating iron co... OMIM:604250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperhid... ORPHA:276608
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:263455
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Hypercholesterolemia, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hyp... OMIM:620454
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Proxima... ORPHA:280365
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, De... OMIM:619013
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Glycogen Storage Disease Iv
Cirrhosis, Ascites, Portal hypertension, Arthrogryposis multiplex congenita, Failure to thrive, H... OMIM:232500
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Ch... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Ch... ORPHA:71526
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis OMIM:620195
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Impaired gluconeogenesis, Microvesic... OMIM:212140
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Elevated circulating hepatic transaminase concentration, C... ORPHA:30391
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, He... OMIM:619902
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Decreased body w... ORPHA:444490
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ... OMIM:619418
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Ascites, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis,... OMIM:256810
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration, Cholelithiasis ORPHA:79278
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorm... ORPHA:369840
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous... OMIM:248370
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, ... ORPHA:97279
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:613327
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Zollinger-Ellison Syndrome
Lipoma, Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pituitary ad... ORPHA:913
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal insufficienc... OMIM:269200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glut... ORPHA:101028
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Fa... ORPHA:2089
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Pancrea... ORPHA:247585
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Reduced c... ORPHA:60
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,... OMIM:605911
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Hypoparathyroidism, Abnormality of iron homeostasis, Hypopl... ORPHA:231226
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperglycemia, Proximal amyotrophy, Hyperlipidemia OMIM:604484
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... ORPHA:71212
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Thyroiditis, Portal hypertension, Camptodactyly, Hypothyroidism, Hepatosp... ORPHA:228426
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypophosphatemi... OMIM:276700
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... OMIM:617093
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent... OMIM:614602
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeo... ORPHA:231214
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Cryptorchidism,... OMIM:616222
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, ... OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul... OMIM:614576
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated circulating h... OMIM:212138
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure OMIM:615878
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Inguinal hernia, Cholestasis, Diastasis recti, Portal hyp... ORPHA:440713
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Interstitial Lung Disease 2
Cirrhosis OMIM:178500
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Very long chain fatty acid... OMIM:264470
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Elevat... OMIM:203800
Solitary Fibrous Tumor
Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglyce... ORPHA:2126
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, R... OMIM:500009
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop... OMIM:242150
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Splenom... OMIM:606003
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency ORPHA:35
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Limb hypertonia, Hyperalaninemia OMIM:615918
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Reduced subcutaneous adipose tissue... OMIM:609069
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,... OMIM:231530
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Ascites, S... ORPHA:186
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia, Cr... ORPHA:2849
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, EMG:... ORPHA:98907
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Skeletal muscle fibrosis, Hypothyroidism, Failure to ... OMIM:616263
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Cirrhosis, Failure to thrive, Glycosuria, Exocrine pancreatic insufficiency, Elevated hemoglobin ... OMIM:616539
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal circulating enzym... ORPHA:79319
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Gaucher Disease Type 1
Delayed puberty, Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis... ORPHA:77259
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, R... ORPHA:254864
Cirrhosis, Familial
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Biliary c... OMIM:215600
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperammonemia, Hyper... OMIM:615453
Wolman Disease
Hepatomegaly, Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, S... OMIM:620151
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly e... ORPHA:681
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... ORPHA:93111
Congenital Macroglossia
Hypothyroidism, Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Immunodeficiency 56
Cirrhosis, Cholangitis, Failure to thrive, Chronic hepatitis due to cryptosporidium infection, He... OMIM:615207
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Abnormal mus... OMIM:175700
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Decreased beta-galact... OMIM:230350
Citrullinemia, Classic
Cirrhosis, Hepatomegaly, Elevated plasma citrulline, Reduced tissue argininosuccinate synthetase ... OMIM:215700
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ... OMIM:616516
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated... OMIM:614921
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:614741
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis, Jaundice, Hepatomegaly,... ORPHA:57777
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Abnormal circulating thyro... ORPHA:90674
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Steatorrhea, De... ORPHA:14
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Cirrhosis OMIM:614743
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta c... ORPHA:99885
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome... OMIM:216360
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperbilirubi... OMIM:557000
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly OMIM:620603
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia, Lower limb muscle weakness, Hypergonadotropic hypogonadism OMIM:619737
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... OMIM:277900
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:613101
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie... ORPHA:71
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia... ORPHA:1454
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hyperglycemia, Left ventricular hypertrophy, Hypopituitarism, Hypercholesterolemia ORPHA:90065
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypophosphate... ORPHA:699
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase activity in ... OMIM:210200
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pann... OMIM:617591
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroid adenoma ORPHA:210548
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase c... ORPHA:75563
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypohidrosis, Hypoglycemia... ORPHA:633
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hyperchole... ORPHA:79259
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Hyperalaninemia OMIM:266150
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism, Patent ductus arteriosus OMIM:615996
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Failure to thrive, Splenomegaly ORPHA:172
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... OMIM:615812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Cirrhosis OMIM:614742
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... ORPHA:77296
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Skeletal muscle atrophy, Hepatic fibrosis,... OMIM:616719
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepatic failure, Cholestasis,... ORPHA:746
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia... OMIM:608836
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metabolism ORPHA:796
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Xerostomia ORPHA:779
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Portal ... ORPHA:84081
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Truncal obesity, Precocious puberty, Obesity, Cryptorchidis... ORPHA:96184
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carniti... ORPHA:228308
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating h... OMIM:232200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities... ORPHA:52430
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Ascites, Hyponatremia, Hyperglycemia, Peritonitis, Small for gestat... ORPHA:391673
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Abnormality of the pancreas, Hepatomegaly, Abnormality of iron homeostasis, ... OMIM:222470
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Chronic pancreatitis, Reduced glycer... OMIM:307030
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Hypokalemia, Fa... ORPHA:769
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Myopathy ORPHA:977
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypogly... OMIM:618958
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... ORPHA:309854
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly OMIM:620282
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98863
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy OMIM:613987
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:261
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Hypertriglyceridemia, Steatorrhea, Elevated circulating he... ORPHA:275761
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98853
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat... OMIM:614727
Dpm1-Cdg
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevat... ORPHA:79322
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Cryptorchidism... OMIM:617575
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Abnormal circulating enzyme conce... ORPHA:70472
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Elevated circulati... OMIM:231680
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip... ORPHA:77293
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypohidrosis, ... OMIM:615704
Leprechaunism
Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Hypokalemia, Fasting hypoglycemia, Decreased bod... ORPHA:508
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Failure to thrive, Chronic hepatitis, Splenomega... OMIM:308230
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Rimmed vacuole... ORPHA:565612
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating h... OMIM:232220
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem... ORPHA:1667
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Cirrhosis, Hepatomegaly, Hepatic fibrosis OMIM:601539
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Inguinal hernia, Pancreatic hypoplasia, Aplasia... OMIM:600001
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia ORPHA:94124
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Joint contracture, Flexion contracture, Splenomegaly, Hypogonadism OMIM:608540
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
Cog7-Cdg
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Elevated circula... ORPHA:79333
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, De... OMIM:610198
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Argininemia
Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis, Hyperargininem... OMIM:207800
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir... ORPHA:540
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Reduced cystathionine beta-synthase activity ... OMIM:236200
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Ascite... OMIM:619487
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Small for gestational age OMIM:215250
Atypical Werner Syndrome
Hypertriglyceridemia, Delayed puberty, Lipoatrophy, Calf muscle hypertrophy, Hypogonadism, Fastin... ORPHA:79474
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Biliary cirrhosis, Failure to thrive, Hepatos... OMIM:219700
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased lecithin cholesterol acyl transferase level, Decreased HDL choles... OMIM:245900
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... ORPHA:1227
Dyskeratosis Congenita
Cirrhosis, Hepatomegaly, Neoplasm of the pancreas, Abnormal testis morphology, Hyperhidrosis, Spl... ORPHA:1775
Mednik Syndrome
Hepatic fibrosis, Cholestasis, Increased circulating very long-chain fatty acid concentration, Ci... OMIM:609313
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, J... OMIM:235555
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Inguinal hernia, Hypoplasia of the thym... ORPHA:84064
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carniti... ORPHA:157
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Adams-Oliver Syndrome
Cirrhosis, Ascites, Portal hypertension, Failure to thrive, Congenital hepatic fibrosis ORPHA:974
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ... OMIM:613561
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Hereditary Chronic Pancreatitis
Jaundice, Elevated circulating C-reactive protein concentration, Abnormal circulating enzyme conc... ORPHA:676
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre... OMIM:610199
Vipoma
Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Subcutaneous lipoma, N... ORPHA:97282
H Syndrome
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Camptodactyly, Decreased testicular size,... ORPHA:168569
Propionic Acidemia
Hepatomegaly, Pancreatitis, Limb hypertonia, Propionyl-CoA carboxylase deficiency, Failure to thr... OMIM:606054
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Spleno... OMIM:612714
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Methylmalonic acidemia, Ab... ORPHA:17
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:26791
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Hepatomegaly, Splenomegaly, Weight loss ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:256040
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Type I diabetes mellitus, Hepatomegaly ORPHA:251009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Facial palsy, Elevated circulating creat... OMIM:610131
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hypothyroidism, Precocious puberty, Obesity, ... ORPHA:254346
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Obesity, Type II dia... ORPHA:3085
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Patent ductus arteriosus, Cholestasis, Ascites, Camptodac... OMIM:608104
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg... OMIM:619064
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuricemia, A... ORPHA:20
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Skeletal muscle steatosis, Failure to thrive, Glycosuria,... ORPHA:436271
Somatostatinoma
Steatorrhea, Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Medullary... ORPHA:97283
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:159
Wolman Disease
Steatorrhea, Hepatomegaly, Cachexia, Ascites, Adrenal insufficiency, Splenomegaly, Adrenal calcif... ORPHA:75233
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Cole Disease
Hyperglycemia OMIM:615522
Classic Galactosemia
Delayed puberty, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:79239
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Weigh... ORPHA:103918
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ascites, Lower limb hypertonia, Generalized amyotrophy, Limb joint contracture, Spl... OMIM:301072
Retinitis Pigmentosa 59
Failure to thrive, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptor... OMIM:613861
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Aredyld Syndrome
Lipoatrophy, Hepatomegaly, Cachexia, Abnormal dental enamel morphology, Splenomegaly, Type II dia... ORPHA:1133
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Diabetes mellitu... ORPHA:90041
Bardet-Biedl Syndrome 20
Pancreatitis, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, ... OMIM:619471
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-red muscle fibers, Cholestasis, Elevated c... OMIM:614924
Estrogen Resistance
Delayed puberty, Elevated alkaline phosphatase of bone origin, Hyperinsulinemia, Increased circul... OMIM:615363
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Acute pancreatitis, Increased circula... ORPHA:466677
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Reduced pancreatic beta cells, Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes... OMIM:226980
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548