Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Sec61 alpha 1 subunit (S. cerevisiae)
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
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
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi... OMIM:617156
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase conc... OMIM:610717
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Decreased HDL cholesterol concentration, Loss of subcutaneous adipose tissue i... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Fasting hypoglycemia, Increased circulating T4 level, De... ORPHA:171706
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Increased LDL cholesterol c... OMIM:616828
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormality of skeletal muscle fiber size, Maternal diabetes, Loss of subcutaneous ... ORPHA:79083
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabd... ORPHA:363400
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... ORPHA:79084
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... ORPHA:90003
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in lower limbs, Loss of subcutaneous adipose tissue in lim... ORPHA:435660
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... OMIM:271500
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Skeletal muscle hypertrophy, Insulin resistance, Fai... ORPHA:528
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... OMIM:231100
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia OMIM:246650
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Distal amyotrophy, Elevated hepatic transamin... OMIM:618400
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Primary Lipodystrophy
Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, Insulin resista... ORPHA:90970
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lyso... OMIM:278000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... OMIM:616829
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic... ORPHA:79085
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Acquired Generalized Lipodystrophy
Hepatomegaly, Myopathy, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circula... ORPHA:79086
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic f... ORPHA:370
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... OMIM:619048
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail... OMIM:256810
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Cirrhosis, Hyperc... OMIM:605814
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, Loss of subcutaneous adipose t... ORPHA:2348
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... OMIM:616860
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Myopathy, Hypoglycemia, Failure to thrive, Card... OMIM:212140
Donohue Syndrome
Fasting hypoglycemia, Skeletal muscle atrophy, Hepatic fibrosis, Hyperglycemia, Adipose tissue lo... OMIM:246200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... ORPHA:79240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme le... ORPHA:264580
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma, Ascites, Glucos... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Failure to thrive, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentrati... ORPHA:26792
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Myopathy, Insulin resistance ORPHA:79087
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Multiple lipomas, Spleno... ORPHA:1414
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ... ORPHA:69663
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Decreased muscle mass, Cholang... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Ascites, Failure to thrive, Depletion of mit... OMIM:251880
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating asparta... OMIM:617049
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase OMIM:613490
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:608594
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis, Incre... OMIM:602390
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Failure to thrive, Hepatitis, Spleno... OMIM:613812
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Galactosemia
Hepatomegaly, Hypergalactosemia, Decreased serum insulin-like growth factor 1, Ascites, Failure t... ORPHA:352
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... ORPHA:139491
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly OMIM:269600
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:269700
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Hypocholestero... OMIM:607765
Galactosemia I
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... OMIM:230400
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma OMIM:176100
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... OMIM:232400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Hemochromatosis, Type 3
Increased serum iron, Hypogonadotropic hypogonadism, Elevated transferrin saturation, Cirrhosis, ... OMIM:604250
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Increased adipose tissue around the neck, Splenomegaly, Lipoatrophy,... ORPHA:280365
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myopathy, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnit... ORPHA:228305
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circulating alkaline phosphata... OMIM:613489
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... OMIM:301033
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Distal arthrogryposis, Hypoglycemia, Myopathy, Skeletal muscle atrophy, E... ORPHA:42
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Myopathy, Skeletal muscle atrophy, Ascites, Failure to thrive, Cirrhosis, Decreased... ORPHA:367
Cog4-Cdg
Failure to thrive in infancy, Limb hypertonia, Fatal liver failure in infancy, Cirrhosis, Hyperch... ORPHA:263501
Rft1-Cdg
Failure to thrive, Hepatomegaly, Arthrogryposis multiplex congenita ORPHA:244310
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Decreased muscle mass, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridem... OMIM:619013
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Muscle fiber atrophy,... ORPHA:369840
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver ... OMIM:614300
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Pelvic girdle musc... ORPHA:98908
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... OMIM:601847
Beta-Thalassemia Intermedia
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Elevate... ORPHA:231222
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Wilson Disease
Hepatomegaly, Proximal muscle weakness in lower limbs, Failure to thrive, Weight loss, Hepatitis,... ORPHA:905
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Hypogonadotropic hypogonadism, Weight ... ORPHA:298
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Ascites, Failure to thrive, Hypertyrosinemi... OMIM:276700
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... ORPHA:444490
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Ascites, Failure to thrive, Arthrogryposis multiplex congenita, Cirrhosi... OMIM:232500
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis, Abnormal circulating porphyrin concentration ORPHA:79278
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Chronic hepatitis, Hepatitis, Primary adrenal insufficiency,... OMIM:269200
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Jaundice, Neuroendocr... ORPHA:913
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Glycerol Kinase Deficiency
Adrenal insufficiency, Myopathy, Hypoglycemia, Small for gestational age, Muscular dystrophy, Hyp... OMIM:307030
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Isolated Biliary Atresia
Acholic stools, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... ORPHA:30391
Cirrhosis, Familial
Increased level of propylene glycol in blood, Micronodular cirrhosis, Jaundice OMIM:215600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Weakn... OMIM:619418
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Skeletal muscle hypertrophy, Insulin resistance, Elevated circulating creatine kina... OMIM:613327
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Decreased serum iron, Cirr... OMIM:614602
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Myopathy, Failure to thrive OMIM:618234
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hepatomegaly, Hypoglycemia ORPHA:67046
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... ORPHA:53693
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Combined Oxidative Phosphorylation Deficiency 26
Cirrhosis, Failure to thrive OMIM:616539
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic fibrosis, Hep... ORPHA:231226
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glut... ORPHA:101028
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Proximal amyotrophy, Increased urinary cortisol level, Type II diabetes mell... ORPHA:189439
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hyp... ORPHA:71212
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Generalized amyotrophy, Splenomegaly,... ORPHA:171
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Retinitis Pigmentosa 59
Failure to thrive, Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase OMIM:613861
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Beta-Thalassemia Major
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic... ORPHA:231214
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... ORPHA:53035
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Hepatosplenomegaly, Thyroiditis,... ORPHA:228426
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Wilson Disease
Hepatomegaly, Hypoparathyroidism, Chondrocalcinosis, Hepatocellular carcinoma, Glycosuria, Cirrho... OMIM:277900
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... ORPHA:2137
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Patent ductu... OMIM:614576
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... ORPHA:131
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic steatosis, ... OMIM:615486
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase le... OMIM:231530
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... OMIM:300972
Interstitial Lung Disease 2
Cirrhosis OMIM:178500
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho... OMIM:606003
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers,... OMIM:500009
Retinitis Pigmentosa 89
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis OMIM:618955
Isolated Sedoheptulokinase Deficiency
Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Diastasis recti, Steato... ORPHA:440713
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Porphyria Cutanea Tarda
Increased serum iron, Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Ch... ORPHA:101330
Adrenomyodystrophy
Hepatic steatosis, Myopathy, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Calf ... ORPHA:488650
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, Failure to thrive, EMG: myopathic abnormalities, Hyperammonemia, Elevated circulating a... ORPHA:99901
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Umbilical hernia, Hyperglycemia, Joint contracture of the hand,... OMIM:175700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli... OMIM:616263
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hyperammonemia ORPHA:35
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... OMIM:212138
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia, Fe... ORPHA:2849
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hyperalaninemia, Elevated gamma-glutamyltransferase level, Hepat... OMIM:614582
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Skeletal muscle atrophy, Hepatic failure, Elevated hepatic transamina... ORPHA:156
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Increased intramyocel... ORPHA:98907
Ddost-Cdg
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... ORPHA:300536
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, A... ORPHA:186
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age, Visceromegaly OMIM:601165
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoglycemia OMIM:246900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, M... ORPHA:254864
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Immunodeficiency 56
Cholangitis, Failure to thrive, Cirrhosis, Hepatic failure, Chronic hepatitis due to cryptosporid... OMIM:615207
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, ... OMIM:229600
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration, Tendon xanthomatosis OMIM:618666
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight loss, Contractures of the joints ... ORPHA:99885
Chylomicron Retention Disease
Myopathy, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, EMG: m... ORPHA:71
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... OMIM:614921
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Increased serum pyruvate OMIM:614741
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hepatomegaly, Elevated hepatic transaminase, ... OMIM:615895
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis, Abnorm... ORPHA:570422
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce... ORPHA:348
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Hepatomegaly, Abnormality of the thyroid gla... ORPHA:417
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Ragged-red muscle fibers, Failure to thrive, Macrovesicular hepatic steatosis, Chol... OMIM:614924
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... ORPHA:158061
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis OMIM:614743
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Abetalipoproteinemia
Hepatomegaly, Myopathy, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepat... ORPHA:14
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated plasm... ORPHA:2394
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnor... ORPHA:90674
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva... OMIM:216360
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramy... ORPHA:681
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... ORPHA:890
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice OMIM:230350
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperuricemia, Hyperammonemia ORPHA:134
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Ascites, Abnormal glucose ho... ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Left ventricular hypertrophy, Hypothyroidism, Hypopituitarism ORPHA:90065
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Musc... OMIM:616516
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Diabe... ORPHA:541423
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Failure to thrive, Panniculitis, Lipodystrophy, Splenomegaly, Hypertrigly... OMIM:617591
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Hypohid... ORPHA:633
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Generalized amyotrophy, EMG: myopathic abnorm... ORPHA:52430
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Hypertriglyceridemia, Hypothyroidism, Hypoalbu... OMIM:617575
Pearson Syndrome
Adrenal insufficiency, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitus, Hepatic st... ORPHA:699
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Myopathy, Primary adrenal insufficiency ORPHA:977
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Abnormality of the hypot... ORPHA:1454
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98855
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... OMIM:269880
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Skeletal myopathy, Di... ORPHA:746
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content, Hyperli... ORPHA:79259
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Small for gestational age, Insulin-... ORPHA:2959
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Failure to thrive, Elevated hepatic transaminase, Cryptorchidism OMIM:618958
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Reynolds Syndrome
Hepatomegaly, Ascites, Xerostomia, Cirrhosis, Jaundice ORPHA:779
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Cirrhotic Cardiomyopathy
Hepatomegaly, Ascites, Increased circulating galectin-3 level, Abnormal B-type natriuretic peptid... ORPHA:57777
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Failure to thrive OMIM:242150
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:618495
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Increased muscle lipid cont... OMIM:608836
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis OMIM:614742
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... ORPHA:77296
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated circulating glutaric acid con... OMIM:231680
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:228308
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammonemia, Cirrhosis, E... OMIM:215700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegaly OMIM:608971
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Skeletal muscle atrophy, Hypokalemia,... ORPHA:508
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosin... OMIM:308230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98863
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis,... ORPHA:84081
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98853
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased ... ORPHA:3008
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypohi... OMIM:615704
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function, Abnormal enzyme/coenzyme activity ORPHA:70472
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor... ORPHA:77293
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for ... OMIM:222470
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Weight loss, Splenomegaly ORPHA:79238
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure OMIM:611126
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ve... OMIM:617713
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterole... OMIM:212065
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... ORPHA:275761
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Amelogenesis... OMIM:614727
Glycogen Storage Disease Ia
Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Panc... OMIM:232200
Cog7-Cdg
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... ORPHA:79333
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Generalized amyotrophy, Neonatal hypoglycemia, Bilateral crypto... ORPHA:66634
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Ascites, Failure to thr... OMIM:613658
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Tendon xanthomatosis, Hypertrigly... OMIM:603813
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Congenital diaphragmatic hernia, Aplasia... OMIM:600001
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Eunu... ORPHA:91
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... ORPHA:79322
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, ... ORPHA:456312
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Failure to thrive, Papillary thyroid car... OMIM:118450
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Gaucher Disease Type 1
Hepatomegaly, Ascites, Biliary tract obstruction, Splenomegaly, Cirrhosis, Hypersplenism, Delayed... ORPHA:77259
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hyperoxaluria OMIM:601539
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormality of the calf musculature, Increased muscle lipid content, Hyperlipidemia... ORPHA:565612
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... OMIM:203700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Ascites, Failure to thrive, Weight loss, Left ventricular hypertr... OMIM:619487
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Ragged-red muscle fibers, Hypoglycemia, Failure to... OMIM:124000
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Flexion contracture, Splenomegaly OMIM:608540
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Patent d... OMIM:301068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Limb muscle weakness, Failure to thrive, Elevated circulating creatine kinase concentration, Gluc... OMIM:610131
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Cholestatic liver disease, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:540
Wolcott-Rallison Syndrome
Central hypothyroidism, Hepatomegaly, Hyponatremia, Ascites, Hyperbilirubinemia, Hyperammonemia, ... ORPHA:1667
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... OMIM:615630
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Micronodular cirrhosis, Abnormal bloo... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Failure to thrive, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic... OMIM:618329
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Failure to thrive, Patent ductus arteriosus, Decreased liver function, Cho... OMIM:608104
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypoalbuminemia ORPHA:94124
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Spleno... OMIM:603553
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Vipoma
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... ORPHA:97282
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Syndromic Diarrhea
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for gestational age, Hypop... ORPHA:84064
Atypical Werner Syndrome
Ovarian neoplasm, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Lipoatrophy, Dia... ORPHA:79474
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Macronodular cirrhosis OMIM:215250
Adams-Oliver Syndrome
Ascites, Congenital hepatic fibrosis, Failure to thrive, Cirrhosis, Portal hypertension ORPHA:974
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Chanarin-Dorfman Syndrome
Hepatomegaly, Myopathy, Hepatic steatosis OMIM:275630
Sitosterolemia 1
Elevated circulating sitosterol concentration, Splenomegaly, Abnormality of the liver, Hyperchole... OMIM:210250
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Hyperhidrosis, Splenomegaly ORPHA:86893
Somatostatinoma
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... ORPHA:97283
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Abnormal enzyme/coenzyme act... ORPHA:676
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly OMIM:615234
H Syndrome
Lipodystrophy, Hernia, Hypogonadism, Hepatosplenomegaly, Diabetes mellitus, Hypertriglyceridemia,... ORPHA:168569
Proteasome-Associated Autoinflammatory Syndrome 1
Adipose tissue loss, Parotitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone co... OMIM:256040
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Visceral Steatosis, Congenital
Myocardial steatosis, Hypoglycemia, Hepatic steatosis, Hypocalcemia, Jaundice OMIM:228100
Argininemia
Hepatomegaly, Portal fibrosis, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Hyperargininemia OMIM:207800
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... OMIM:214950
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, M... ORPHA:157
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hyperbilirubinemia, Splenomegaly,... OMIM:235555
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Macroglossia, Hypothyroidism, R... OMIM:251900
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Hepatomegaly, Type I diabetes mellitus ORPHA:251009
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Failure to thrive, Pancreatitis, Hepatic steatosis, Hypermethioninemia, Ingu... OMIM:236200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Myopathy, Hepatomegaly OMIM:614922
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemi... ORPHA:293987
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Obesity, C... ORPHA:254346
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O... ORPHA:791
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia... OMIM:232220
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Cachexia, Ascites, Splenomegaly, Steatorrhea, Adrenal calcif... ORPHA:75233
Cystic Fibrosis
Hepatomegaly, Failure to thrive, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Steatorrhea, Exocri... OMIM:219700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Failure to thrive, Glycosuria, Skeletal muscle steatosis, Diffuse hepatic steatosis... ORPHA:436271
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ... ORPHA:3085
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concent... ORPHA:26791
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia, Obesity, Insulin resistance ORPHA:96168
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Ragged-red muscle fibers, Hypoglycemia, Methylmalonic acidemia, Skeletal muscle atr... ORPHA:17
Classic Galactosemia
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Ascites, Abnormal enzym... ORPHA:79239
Aredyld Syndrome
Hepatomegaly, Cachexia, Type II diabetes mellitus, Abnormal dental enamel morphology, Splenomegal... ORPHA:1133
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Elevated creatine kinase after exer... ORPHA:159
Dyskeratosis Congenita
Hepatomegaly, Neoplasm of the pancreas, Splenomegaly, Cirrhosis, Abnormal testis morphology, Diab... ORPHA:1775
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Congenital hypothyroidism, Hepatic fibrosis, Splenic cyst, P... OMIM:610199
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Exocrine pancreatic insufficiency, Ja... OMIM:612714
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Elevated c... ORPHA:466677
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Bilateral cryptorchidism, Male hypogonadism, Elevated hepatic... OMIM:619471
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Hyperhidrosis, Splenomegaly ORPHA:98293
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Cholestasis, Jaundice OMIM:614887
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Insulin-resistant diabetes mellitus, Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic b... OMIM:226980
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Limb hypertonia, Failure to thr... OMIM:606054
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Splenomegaly, Hypogonadism, Low alkaline phosphatase, Decreased ... OMIM:201100
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Weight ... ORPHA:400
Gaisböck Syndrome
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Overweight, Diabetes mellitus, Hy... ORPHA:90041
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Flexion contractu... ORPHA:87876
Thyrotoxic Periodic Paralysis
Hyperkalemia, Abnormal muscle fiber morphology, Thyrotoxicosis with toxic single thyroid nodule, ... ORPHA:79102
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease ORPHA:5
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Eleva... OMIM:619064
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated hepatic transaminase, Micronodular cirrhosis OMIM:192315
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Hepatomegaly, Generalized amyotrophy, Elevated hepatic transaminase OMIM:613561
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Hyperammonemia, Recurrent hypoglyce... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Weakness of facial musculature, Failure to thrive, Increased intramyocellular lipid... OMIM:220110
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664