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
Hyperinsulinemia, Hyperglycemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Calf muscle hypertrophy, Loss... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Poly... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Calf muscle hypertrophy,... ORPHA:435651
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... OMIM:606069
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Skeletal muscle hypertrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant ... OMIM:613877
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Po... ORPHA:79083
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... ORPHA:435660
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Splenoportal Vascular Anomalies
Hyperammonemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, S... ORPHA:528
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas, Glucagonoma, Increas... ORPHA:438274
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Proximal muscle we... ORPHA:171706
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Type II diabetes mellitus, Lipoatrophy, Splenomegaly, Skeletal musc... ORPHA:90970
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, ... OMIM:615980
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic transaminase, Mildly elevated crea... OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Polycystic o... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Hypertriglyceridemia, L... ORPHA:79085
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... ORPHA:370
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... OMIM:256810
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Skeletal muscle hypertrophy, Polycystic ova... ORPHA:2348
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... OMIM:616860
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, R... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... ORPHA:264580
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Elevated hepatic transaminase, Lipodystr... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... ORPHA:276556
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Hepati... ORPHA:26792
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Sea-Blue Histiocyte Disease
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspa... OMIM:269600
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Small for g... ORPHA:79237
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... OMIM:613490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevat... OMIM:617049
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Elevated circulati... ORPHA:2088
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... OMIM:603471
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Galactosemia I
Decreased liver function, Failure to thrive, Hepatomegaly, Increased level of galactitol in red b... OMIM:230400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... OMIM:602390
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613812
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Galactosemia
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, I... ORPHA:352
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613489
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Elevated circulating alkaline phosphata... ORPHA:263455
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Polycystic ovarie... ORPHA:280365
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Hypogonadotropic hypogonadism, Elevated ... OMIM:604250
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased acid sphingomyelinase activity, Splenomegaly, Increased LDL cholesterol c... OMIM:607616
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Limb hype... ORPHA:263501
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Tendon xanthomatosis, Decreased HDL choles... ORPHA:412
Porphyria Cutanea Tarda
Cirrhosis, Hepatocellular carcinoma OMIM:176100
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Failure to thrive, Hepatomegaly, Flex... ORPHA:367
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbu... OMIM:619013
Rft1-Cdg
Failure to thrive, Hepatomegaly, Arthrogryposis multiplex congenita ORPHA:244310
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:601847
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... ORPHA:98908
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... ORPHA:567983
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Abnormal circulating creatine kinase conc... ORPHA:369840
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... ORPHA:444490
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypoparathyroidism, Adrenal insufficiency, Hepatomegaly... ORPHA:231222
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... OMIM:261680
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Proximal muscle ... ORPHA:905
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Hypergonadotropic hypogonadism, Cirrhosis, Cachexia, Hypo... ORPHA:298
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... OMIM:619902
Glycogen Storage Disease Iv
Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Portal hypertension, Arthrogry... OMIM:232500
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... ORPHA:79302
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Isolated Biliary Atresia
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Prolonged neo... ORPHA:30391
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration ORPHA:79278
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Hypercholestero... OMIM:301033
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... OMIM:617253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Muscular dystrophy, Hypoglycemia, Hypertriglyce... OMIM:307030
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh... OMIM:269200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal mu... OMIM:613327
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diab... OMIM:609069
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:67046
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirub... OMIM:211600
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Cirrhosis, Hepatosplenomegaly, Increased serum bile... ORPHA:101028
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... OMIM:201450
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189439
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hypoplasia of the musculature, Splenomegaly, Cirrhosis... ORPHA:231226
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Hypermanganesem... OMIM:613280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-Co... ORPHA:71212
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... OMIM:203800
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Failure to thrive, Hepatomegaly, Cryptorchidism OMIM:613861
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Trichohepatoenteric Syndrome 2
Failure to thrive, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis, Decreas... OMIM:614602
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hypoplasia of the musculature, Hepatomegaly, Splenomeg... ORPHA:231214
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Camptodactyly, Hypothyroidism,... ORPHA:228426
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, ... ORPHA:2126
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... OMIM:618549
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis, Myopathy OMIM:300270
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... OMIM:300972
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhos... OMIM:276700
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:614576
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Diastasis recti, Cholestatic liver disease, Flexion contracture, Stea... ORPHA:440713
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating... OMIM:615486
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Interstitial Lung Disease 2
Cirrhosis OMIM:178500
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant hepatic failure, Hypoketotic hypoglyce... OMIM:231530
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Transaldolase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, ... OMIM:606003
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:212138
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Corneal scarring, Viral hepatitis, Periportal fibro... ORPHA:101330
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum... OMIM:500009
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transami... OMIM:242150
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Camptodactyly o... OMIM:175700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... OMIM:616263
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... ORPHA:99901
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Inguinal hernia, Femoral hernia, Cr... ORPHA:2849
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Propionic Acidemia
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia ORPHA:35
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hyp... ORPHA:79319
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, EMG: myopathic abnormalities, Abnormal circulating creatine... ORPHA:98907
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipide... ORPHA:156
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Hyperlipoproteinemia, Type Id
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:615947
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... ORPHA:79303
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Increased level of propylene glycol in bl... OMIM:215600
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly OMIM:601165
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... ORPHA:480520
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Elevated circulating alkaline phosphatase concentration, Hepati... ORPHA:186
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Limb hypertonia OMIM:615918
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... ORPHA:254864
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... ORPHA:247598
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Immunodeficiency 56
Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis... OMIM:615207
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Failure to thrive, Exocrine pancreatic insufficiency, Glucose intolerance, Elevated hemoglobin A1... OMIM:616539
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Lower-limb joint contracture, Glycosuria, Pancreatic hypoplasia, Neonatal insu... ORPHA:99885
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly OMIM:614741
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Hypoglycemia, Elevated he... ORPHA:348
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hypo... ORPHA:71
Galactose Mutarotase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hyp... ORPHA:570422
Galactosemia Iii
Failure to thrive, Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Hypergalact... OMIM:230350
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Ragged-red muscle... OMIM:614924
Isolated Polycystic Liver Disease
Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Glyco... OMIM:229600
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis OMIM:614743
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Abnormal muscle fiber morphology, Episodic hypokalemia, Adrenocortica... ORPHA:681
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... OMIM:216360
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Lower limb muscle weakness, Hyperglycemia OMIM:619737
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentr... ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hepatic f... OMIM:557000
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemi... ORPHA:2394
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia ORPHA:134
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, As... ORPHA:890
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyponatremia, Ascites, Hype... ORPHA:391673
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:266150
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Hypertriglyceridemi... OMIM:617591
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Cirrhotic Cardiomyopathy
Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Cirrhosis, Increased circulating ... ORPHA:57777
Laron Syndrome
Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Hypoglycemia, Delayed puberty... ORPHA:633
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:616516
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... OMIM:617575
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... ORPHA:699
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Glucose intolerance, Splenomegaly ORPHA:75563
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormal enzyme/coenzyme activity,... ORPHA:79259
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Myopathy ORPHA:977
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... OMIM:616278
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... OMIM:269880
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Inguinal hernia, Splenomegaly, Intrahepatic biliary atresia,... ORPHA:1454
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... ORPHA:562639
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, EMG: myopathic abnormalities, Rimmed vac... ORPHA:52430
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato... ORPHA:470
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Left ventricular hypertrophy, Hypoketotic hypoglycemia, Cholest... ORPHA:746
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Cryptorchidism OMIM:618958
Citrullinemia, Classic
Failure to thrive, Hepatomegaly, Episodic ammonia intoxication, Hyperammonemia, Cirrhosis, Hypoar... OMIM:215700
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... ORPHA:2959
Reynolds Syndrome
Hepatomegaly, Cirrhosis, Xerostomia, Ascites, Jaundice ORPHA:779
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis OMIM:614742
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... ORPHA:84081
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Decreased bod... ORPHA:508
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... OMIM:618528
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:267700
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Glycosuria, Elevated circulating glutaric acid concentration, Hypoglycemi... OMIM:231680
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperp... ORPHA:3008
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypohidrosis, Delayed puberty, ... OMIM:615704
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Abnormal enzyme/coenzyme activity ORPHA:70472
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, In... ORPHA:77293
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Enlarged kidney, Hypoglycem... OMIM:232200
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Cholestasis, Benign Recurrent Intrahepatic, 1
Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, H... OMIM:617713
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated cir... OMIM:614727
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Umbilical hernia, Prolonged neonatal jaundice, Bile d... OMIM:301068
Lysosomal Acid Lipase Deficiency
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrhea, Weight los... ORPHA:275761
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Galactose Epimerase Deficiency
Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy OMIM:613987
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Dpm1-Cdg
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
Trichohepatoenteric Syndrome 1
Failure to thrive, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Small for gestational ... OMIM:222470
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive OMIM:210200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Diaphragmatic eventration, Elevated circulating glutaric acid c... ORPHA:66634
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Joint contracture of the hand... ORPHA:456312
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Tendon xanthomatosis, Hypercholes... OMIM:603813
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegaly OMIM:608971
Cog7-Cdg
Failure to thrive, Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Elevated circulat... ORPHA:79333
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,... OMIM:600001
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... OMIM:203700
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... OMIM:613070
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Pancreatitis, Abnormal enzyme/coenzyme activity, Hepatomegaly, Splenomegaly, Abno... ORPHA:565612
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Glycosuria, Abnormality of circulating leptin level, Hypogona... ORPHA:79474
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Inguinal hernia, Small ... OMIM:613658
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreat... OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Glucose intolerance, Elevated circulating creatine kinase concentration, Impai... OMIM:610131
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hypergonadotropic hypogonadism, Mac... ORPHA:91
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Acute... ORPHA:1667
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Nephrogenic diabetes insipidus, Cholestatic liver disease, Giant cell hepatiti... OMIM:613404
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Flexion contracture, Splenomegaly OMIM:608540
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hyperoxaluria OMIM:601539
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Elevated gamma-glu... OMIM:618329
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract obstruction, Delayed puberty, Ascites, Hyper... ORPHA:77259
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangit... OMIM:308230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypog... OMIM:124000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa... ORPHA:309854
Werner Syndrome
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... OMIM:277700
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Small for gestational age OMIM:215250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosur... OMIM:616026
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:603553
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Chol... OMIM:609313
Vipoma
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Subcutaneous... ORPHA:97282
Alagille Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatic failure, Cirrhosis, Hepatocellular ... OMIM:118450
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Inguinal hernia, Splenomegaly, Small for gestational age, Cirrhosis... ORPHA:84064
Adams-Oliver Syndrome
Failure to thrive, Cirrhosis, Congenital hepatic fibrosis, Portal hypertension, Ascites ORPHA:974
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Small for gestationa... OMIM:606721
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hepatomegaly, Hyperhidrosis, Splenomegaly ORPHA:86893
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Abnormal enzyme/coenzyme activity, Recurre... ORPHA:676
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly, Myopathy OMIM:275630
Somatostatinoma
Medullary thyroid carcinoma, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Increased circula... ORPHA:97283
H Syndrome
Hepatosplenomegaly, Enlarged kidney, Camptodactyly, Hypertriglyceridemia, Lipodystrophy, Hernia, ... ORPHA:168569
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Argininemia
Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Hyperargininemia, Cholestasis, Portal fibrosis OMIM:207800
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Hepati... OMIM:236200
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Elevated circulating C-reactive protein concentration, Hepatomegal... OMIM:256040
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Hepatomegaly, Splenomegaly OMIM:615234
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hyperbi... OMIM:235555
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism ORPHA:445038
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diabetes mellit... ORPHA:1775
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Hepatomegaly, Type I diabetes mellitus ORPHA:251009
Visceral Steatosis, Congenital
Hypocalcemia, Jaundice, Hypoglycemia, Myocardial steatosis, Hepatic steatosis OMIM:228100
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Hypothyroidism, R... OMIM:251900
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity, Ab... ORPHA:791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Decreased t... ORPHA:3085
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperglycinemia, Met... OMIM:251000
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Cachexia, Hepatic failure, Adrena... ORPHA:75233
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Precocious puberty, Hypothyroidism, Arthrogryposis multiplex congenita, Obesity, ... ORPHA:254346
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly, Myopathy OMIM:614922
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Hepatic steatosis, Insulin resistance ORPHA:96168
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Cystic Fibrosis
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Steatorrhea, Ci... OMIM:219700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis,... ORPHA:436271
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Micronodular cirrhosis, Flexion contracture, Splenomegaly, Hepatic failure, Truncal... OMIM:301072
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Ja... OMIM:612714
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Aredyld Syndrome
Type II diabetes mellitus, Hepatomegaly, Lipoatrophy, Splenomegaly, Cachexia, Type I diabetes mel... ORPHA:1133
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Hyperam... ORPHA:26791
Propionic Acidemia
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficien... OMIM:606054
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminot... ORPHA:466677
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Hepatic failure, ... ORPHA:159
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Flexion contracture, Increase... ORPHA:17
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Abnorm... ORPHA:79102
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Classic Galactosemia
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Abnormal erythrocyte enzyme lev... ORPHA:79239
Bardet-Biedl Syndrome 20
Pancreatitis, Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia, Obesity, Bi... OMIM:619471
Hodgkin Lymphoma
Weight loss, Hepatomegaly, Hyperhidrosis, Splenomegaly ORPHA:98293
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hyp... OMIM:610199
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Reduced pancreatic beta cells, Hepatomegaly, Insulin-resistant diabetes mellitus, Type I diabetes... OMIM:226980
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Failure to thrive ... OMIM:619064
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hepatomegaly, Flexion contracture, Elevated hemoglobin A1c, Left ventricular... OMIM:619127
Sialidosis Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Umbilical hernia, Ascites, Skel... ORPHA:87876
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk...