Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Sec61a1 MGI:1858417

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SEC61 translocon subunit alpha 1

Synonyms:

Sec61a

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Sec61a1 (1 diseases)
Human diseases predicted to be associated with Sec61a1 (799 diseases)

The table below shows human diseases associated to Sec61a1 by orthology or direct annotation.

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

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

Disease	Matching phenotypes	Source
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi...	OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Polyc...	ORPHA:280356
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hepatic steatosis, Hypocalcemi...	OMIM:612526
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ...	OMIM:615703
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s...	ORPHA:79083
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi...	OMIM:606762
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Myopathy, Red...	ORPHA:363400
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ...	ORPHA:293964
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s...	ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia	OMIM:246650
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proxima...	ORPHA:435660
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Adren...	OMIM:278000
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Hype...	OMIM:214900
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl...	ORPHA:436182
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Micronodular...	ORPHA:139507
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc...	ORPHA:552
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak...	OMIM:618400
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce...	OMIM:615980
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth...	ORPHA:99886
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa...	OMIM:617872
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Myopathy, Li...	ORPHA:2348
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu...	ORPHA:276575
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, Hepatomegal...	ORPHA:264580
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	ORPHA:79240
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276580
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc...	OMIM:619386
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Skeletal muscle atrophy, Choles...	OMIM:246200
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Cholestasis-Lymphedema Syndrome	Portal hypertension, Neonatal cholestatic liver disease, Hyperlipidemia, Biliary tract abnormalit...	ORPHA:1414
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Abnormal circulatin...	ORPHA:79237
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Elevated circulating al...	OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypoketotic...	ORPHA:276556
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Galactosemia I	Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El...	OMIM:230400
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyp...	OMIM:232400
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Myopathy,...	ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Generalized muscular...	OMIM:608594
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy	ORPHA:79087
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ...	ORPHA:2088
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Increased circulating ferritin concentration, Decreased serum testosterone...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi...	OMIM:602579
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Porphyria Cutanea Tarda	Cirrhosis, Reduced uroporphyrinogen decarboxylase activity, Hepatocellular carcinoma	OMIM:176100
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir...	OMIM:269700
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:98908
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Hyperbilirubinemia,...	OMIM:615710
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased acid sphin...	OMIM:607616
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skelet...	ORPHA:367
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D...	ORPHA:42
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy...	ORPHA:263455
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Hepatic steatosis, Myopathy, Polycystic ovaries, Reduce...	ORPHA:280365
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Dysbetalipoproteinemia	Acute pancreatitis, Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, I...	ORPHA:412
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ...	OMIM:619013
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Ascites, Abnormal circulating creati...	OMIM:232500
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosp...	ORPHA:231222
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperins...	ORPHA:324575
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity, Hepatic steatosis	OMIM:620195
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate...	OMIM:212140
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle...	ORPHA:298
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir...	ORPHA:30391
Wilson Disease	Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:905
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Accessory spleen, Failure to thrive, Hypoglycemia, Polysplenia, Exocri...	OMIM:619418
Familial Chylomicronemia Syndrome	Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl...	ORPHA:444490
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Acute hepatic fail...	OMIM:256810
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Abnormal circulating porphyrin concentration, Decreased liver function	ORPHA:79278
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular...	ORPHA:369840
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Elbow flexion cont...	OMIM:248370
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia...	OMIM:269200
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:613327
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Transaldolase Deficiency	Hepatosplenomegaly, Cirrhosis, Abnormal circulating glutamine concentration, Increased serum bile...	ORPHA:101028
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat...	OMIM:618805
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Hypopituitarism...	ORPHA:231226
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Proximal amyotrophy, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Caroli Disease	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro...	ORPHA:53035
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos...	ORPHA:228426
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Interstitial Lung And Liver Disease	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Failure to thrive, C...	OMIM:615486
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr...	OMIM:617093
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepato...	OMIM:614602
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Exer...	OMIM:201475
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Hypopituitarism...	ORPHA:231214
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h...	ORPHA:131
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry...	OMIM:616222
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:614576
Cholestasis, Progressive Familial Intrahepatic, 4	Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma	OMIM:615878
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul...	OMIM:615954
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, H...	OMIM:227810
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Decreas...	OMIM:231530
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Hepatitis, Fulminant Viral, Susceptibility To	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur...	OMIM:618549
Interstitial Lung Disease 2	Cirrhosis	OMIM:178500
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec...	OMIM:203800
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,...	OMIM:500009
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the live...	ORPHA:2126
Transaldolase Deficiency	Hepatic fibrosis, Small for gestational age, Micronodular cirrhosis, Decreased liver function, Fa...	OMIM:606003
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron...	ORPHA:189427
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Limb hypertonia	OMIM:615918
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia	ORPHA:35
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo...	OMIM:609069
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Tangier Disease	Distal amyotrophy, Facial diplegia, Hypertriglyceridemia, Splenomegaly, Elevated circulating apol...	OMIM:205400
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:71526
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:246900
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ...	ORPHA:98907
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Skelet...	OMIM:616263
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr...	ORPHA:300536
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl...	OMIM:617885
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Glucose intolerance, Cirrhosis,...	OMIM:616539
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom...	OMIM:615947
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c...	ORPHA:254864
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Hepatic failure, Increased ...	ORPHA:77259
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,...	OMIM:215600
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr...	OMIM:229600
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat...	ORPHA:79319
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Adrenal calcifi...	OMIM:620151
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h...	OMIM:615453
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellu...	ORPHA:681
Sitosterolemia 2	Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism	ORPHA:2430
Immunodeficiency 56	Hepatic failure, Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Cirrhosis...	OMIM:615207
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:93111
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Cryptorchidism, Inguinal hernia, ...	OMIM:175700
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ...	OMIM:616516
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H...	OMIM:230350
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Hyperammonemia, Hyperglu...	OMIM:215700
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Galactose Mutarotase Deficiency	Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati...	ORPHA:570422
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Abnormal ci...	ORPHA:57777
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Myopathy	OMIM:618234
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Cirrhosis	OMIM:614743
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr...	ORPHA:890
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur...	ORPHA:90674
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv...	ORPHA:99885
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur...	OMIM:557000
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:158057
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly	ORPHA:134
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Obesity, Hypergonadotropic hypogonadism, Lower limb muscle weakness	OMIM:619737
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,...	OMIM:277900
Perlman Syndrome	Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe...	ORPHA:2849
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega...	ORPHA:417
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse...	OMIM:269880
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia	ORPHA:90065
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Pearson Syndrome	Hepatic steatosis, Hypophosphatemia, Hypoparathyroidism, Hepatomegaly, Hypoplastic spleen, Decrea...	ORPHA:699
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Myositi...	OMIM:617591
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:562639
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Reduced 3-methylcrotonyl CoA carboxylas...	OMIM:210200
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis	ORPHA:210548
Laron Syndrome	Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality o...	ORPHA:633
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hypoglycemia, Xanthelasma, Abnormal circulating enzyme concentration or activi...	ORPHA:79259
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Bardet-Biedl Syndrome 19	Hypogonadism, Patent ductus arteriosus, Obesity, Hepatic steatosis	OMIM:615996
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Cirrhosis	OMIM:614742
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Elevated circulating hepatic ...	ORPHA:75563
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes...	OMIM:615812
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Splenomega...	OMIM:616719
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A...	ORPHA:77296
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Increased variability in muscle fiber diameter, Failure...	OMIM:615595
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, ...	ORPHA:746
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased muscle mass, Xan...	OMIM:232200
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Reynolds Syndrome	Xerostomia, Ascites, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:779
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive, Abnormal glycosphingolipid metabolism	ORPHA:796
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Hypercholester...	ORPHA:96184
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype...	ORPHA:3008
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a...	OMIM:613658
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Hepatic steatosis, Elevated circ...	ORPHA:52430
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Small for ges...	ORPHA:2959
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Glycerol Kinase Deficiency	Muscular dystrophy, Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancr...	OMIM:307030
Necrotizing Enterocolitis	Ascites, Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Small for gestat...	ORPHA:391673
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me...	ORPHA:769
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Adrenomyodystrophy	Myopathy, Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive	ORPHA:977
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 47	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Cryptor...	OMIM:618958
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Hepatosplenomegaly, Xanthelasma, Hypersplenism, Elevated circulating alkal...	ORPHA:275761
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis	OMIM:613987
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:614727
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Dpm1-Cdg	Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Fa...	ORPHA:79322
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidis...	OMIM:617575
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr...	ORPHA:70472
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Impaired...	OMIM:301068
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-...	OMIM:232220
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Abnormal circulating enzyme conc...	ORPHA:565612
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Skelet...	ORPHA:508
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypohidrosis, Delaye...	OMIM:615704
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Elevated circula...	ORPHA:66634
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi...	OMIM:611126
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Failure to thrive, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Chronic hepatitis,...	OMIM:308230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyc...	OMIM:603813
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Exoc...	ORPHA:456312
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans...	ORPHA:1667
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Distal lower limb muscle weakness	ORPHA:94124
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Pancreatic hypoplasia, Failure to thrive, Umbilical hernia, Hyperglycemia, Absent gal...	OMIM:600001
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Failure to thrive secondary to recurrent infections	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr...	OMIM:603553
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased testi...	OMIM:610198
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E...	ORPHA:79333
Werner Syndrome	Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:277700
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg...	OMIM:207800
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Failure to thrive, Hepatic steatosis, Inguinal hernia, Reduced cystathionine ...	OMIM:236200
Cystic Fibrosis	Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirr...	OMIM:219700
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:619487
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Small for gestational age	OMIM:215250
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:118450
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat...	OMIM:615630
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles...	OMIM:245900
Aromatase Deficiency	Insulin resistance, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Crypto...	ORPHA:91
Atypical Werner Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Generalized lipodystrophy, ...	ORPHA:79474
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I...	OMIM:618620
Dyskeratosis Congenita	Hepatic failure, Splenomegaly, Cirrhosis, Hyperhidrosis, Abnormal testis morphology, Hepatomegaly...	ORPHA:1775
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci...	OMIM:609313
Syndromic Diarrhea	Hepatic fibrosis, Small for gestational age, Abnormality of the liver, Splenomegaly, Inguinal her...	ORPHA:84064
Adams-Oliver Syndrome	Failure to thrive, Ascites, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis	ORPHA:974
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Failure to thrive, Lower limb muscle weakness, Gluc...	OMIM:606721
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy	OMIM:275630
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia	OMIM:607250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Ragged-red muscle fib...	OMIM:613561
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat...	OMIM:612714
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Bardet-Biedl Syndrome 9	Hyperglycemia, Obesity, Truncal obesity	OMIM:615986
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
H Syndrome	Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puber...	ORPHA:168569
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre...	ORPHA:676
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Elevated circulating thyroid-stimulating hormone concentration, Panc...	OMIM:610199
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:615558
Propionic Acidemia	Failure to thrive, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyperammo...	OMIM:606054
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent...	ORPHA:17
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis, Elevated circulating hepatic transamina...	ORPHA:445038
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Hyperhidrosis, Splenomegaly	ORPHA:86893
Wolman Disease	Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Cachexia, H...	ORPHA:75233
Proteasome-Associated Autoinflammatory Syndrome 1	Flexion contracture of finger, Elevated circulating C-reactive protein concentration, Hepatomegal...	OMIM:256040
19P13.12 Microdeletion Syndrome	Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Hypothyroidism, A...	ORPHA:254346
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Type I diabetes mellitus, Failure to thrive	ORPHA:251009
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormality of the li...	OMIM:610131
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperproli...	OMIM:619064
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97283
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Glycosuria, Decreased liver function, Hepatomegaly, Skeletal muscle steatosis,...	ORPHA:436271
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c...	OMIM:608104
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Hyperammonemia, ...	ORPHA:20
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Abnormal muscle fiber morpholog...	ORPHA:79102
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Cole Disease	Hyperglycemia	OMIM:615522
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ...	ORPHA:79239
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Ascites...	OMIM:301072
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Failure to...	OMIM:613861
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid...	OMIM:619471
Aredyld Syndrome	Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg...	ORPHA:1133
Monosomy 13Q34	Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis	ORPHA:96168
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated...	ORPHA:400
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ra...	OMIM:614924
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
Gaisböck Syndrome	Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem...	ORPHA:90041
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi...	ORPHA:293987
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia	ORPHA:664
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Scorpion Envenomation	Increased circulating lactate dehydrogenase concentration, Glycosuria, Hyperglycemia, Elevated ci...	ORPHA:466677
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes...	OMIM:226980
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver...	OMIM:261515
Gaucher Disease Type 2	Hepatomegaly, Flexion contracture, Splenomegaly	ORPHA:77260
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th...	ORPHA:586
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Failure to thrive	ORPHA:28
Sialidosis Type 2	Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hepatomegaly, ...	ORPHA:87876
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis	OMIM:192315
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:79332
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Met...	OMIM:251000
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Large for gestational age, Elevated circulating alkaline phosphatase c...	OMIM:300868
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Ascites, C...	ORPHA:858
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Prader-Willi Syndrome	Precocious puberty, Class III obesity, Decreased muscle mass, Decreased HDL cholesterol concentra...	OMIM:176270
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc...	OMIM:620005
Smith-Magenis Syndrome	Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Pancreatitis, Hepatomegaly	ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Hypocalcemia, Ascites	ORPHA:100025
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol...	OMIM:619127
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Jaundice, Patent ductus arteriosus	ORPHA:290
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss, Ascites	ORPHA:2198
Alpha-Mannosidosis	Type II diabetes mellitus, Inguinal hernia, Splenomegaly, Hepatomegaly, Macroglossia	ORPHA:61
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608799
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia	OMIM:620423
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Perlman Syndrome	Visceromegaly, Hypoglycemia, Ascites, Large for gestational age, Cryptorchidism, Pancreatic islet...	OMIM:267000
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Myopathy, Hepatic steatosis, Decreased liver function	OMIM:614922
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ...	OMIM:167800
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, Hypoplastic spleen, Increased circulating ferritin concentration, Hyper...	OMIM:619313
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Decreased liver function, Failure to thrive, Weakness of facial musculature, Increase...	OMIM:220110
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Immunodeficiency 97 With Autoinflammation	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:619802
Cimdag Syndrome	Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly	OMIM:619273
Ppoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97278
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly	OMIM:607685
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:289916
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:881
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk...	ORPHA:110
Steinert Myotonic Dystrophy	Hyperinsulinemia, Pelvic girdle muscle weakness, Secondary hyperparathyroidism, Abnormality of th...	ORPHA:273
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope...	ORPHA:59303
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis	OMIM:616271
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Elevated circulating propionylcarnitin...	OMIM:251110
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f...	OMIM:615935
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased circulating lactate deh...	OMIM:611881
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa...	OMIM:619573
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly, ...	OMIM:231670
Smith-Magenis Syndrome	Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty, Hyper...	ORPHA:819
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97280
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Immunodeficiency 54	Failure to thrive, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormone excess, Hepat...	OMIM:609981
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Tenorio Syndrome	Hypoinsulinemia, Macroglossia, Hypoglycemia	OMIM:616260
Microcephaly, Amish Type	Hepatomegaly, Flexion contracture, Limb hypertonia, Failure to thrive	OMIM:607196
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co...	OMIM:208920
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome...	OMIM:618892
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co...	ORPHA:355
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Elevated circulating a...	OMIM:619534
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ...	OMIM:238970
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Ascites	ORPHA:2123
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Fucosidosis	Failure to thrive, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly, Hypothyro...	ORPHA:349
Sitosterolemia 1	Increased circulating lactate dehydrogenase concentration, Hyperapobetalipoproteinemia, Xanthelas...	OMIM:210250
Xp21 Deletion Syndrome	Decreased muscle mass, Adrenal insufficiency, Primary adrenal insufficiency, Myopathy, Elevated c...	ORPHA:261476
Immunodeficiency 48	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:269840
Dend Syndrome	Hyperglycemia	ORPHA:79134
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97261
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary...	ORPHA:363618
Mu-Heavy Chain Disease	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:100024
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Hepatic necrosis	OMIM:127550
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Ascites, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ...	OMIM:619525
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Abnormality...	ORPHA:848
Alström Syndrome	Elevated gamma-glutamyltransferase level, Testicular fibrosis, Decreased circulating T4 concentra...	ORPHA:64
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar...	OMIM:615363
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Failure to thrive, Ascites, Elevated circulating aspartate aminotransfer...	OMIM:257200
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly	OMIM:133180
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Infantile Refsum Disease	Failure to thrive, Elevated circulating phytanic acid concentration, Hepatomegaly, Very long chai...	ORPHA:772
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormality of alkaline phosphatase level, Hypertriglyceridemia	OMIM:618010
Gaucher Disease, Type Iii	Hepatomegaly, Decreased beta-glucocerebrosidase level, Splenomegaly, Decreased body weight	OMIM:231000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:27
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia	OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicular h...	OMIM:220111
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Glycogen Storage Disease Ic	Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, D...	OMIM:232240
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Hypersplenism, Portal hyperten...	OMIM:613385
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:42642
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:100085
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly	OMIM:618852
Cranioectodermal Dysplasia 3	Cirrhosis	OMIM:614099
Cryptococcosis	Peritonitis, Cirrhosis, Limb muscle weakness, Prostatitis	ORPHA:1546
Immunodeficiency 10	Hypoglycemia, Splenomegaly, Myopathy, Amelogenesis imperfecta, Hypohidrosis, Hepatomegaly	OMIM:612783
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Increased circu...	ORPHA:97287
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Reactive hypoglycemia, Hyperuricemia...	ORPHA:469
Poems Syndrome	Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Ascites, Primary adre...	ORPHA:2905
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly	OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Generalized lipodystrophy, Splenomegaly, Myositis, Hepatomegaly, Flexion...	OMIM:619183
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Hepatic ...	OMIM:615356
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypoalbuminemia, Precocious puberty, Failure to thrive, Hypocholestero...	OMIM:270400
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Splenomegaly, Hepatomegaly, Macroglossia, Macrovesicular hepatic steatosis, Flex...	OMIM:617303
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Splenomegaly, Elevated hepatic iron c...	OMIM:615234
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Failure to thrive	OMIM:615085
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo...	ORPHA:507
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Widened atrophic scar, Umbilical hernia, Cryptorchidism, Inguinal hernia, Ventral her...	ORPHA:536532
Bloom Syndrome	Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism, Elevated hemoglobin A1c, Small for ...	OMIM:210900
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Goite...	ORPHA:525731
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus, Failure to thrive	OMIM:300400
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Cholecys...	OMIM:266200
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly...	ORPHA:83469
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J...	ORPHA:294
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Myopathy, Elevated circulating creatine ...	OMIM:617713
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased serum testosterone concentration, Hypogonadism, Decreased testicular...	OMIM:201100
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl...	OMIM:246450
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Decreased liver function, Elevated circ...	OMIM:608779
Heme Oxygenase 1 Deficiency	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:614034
Oculoskeletodental Syndrome	Elbow flexion contracture, Hypocalcemia, Cryptorchidism, Splenomegaly, Hypothyroidism, Hepatomega...	OMIM:618440
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Splenomeg...	ORPHA:457077
Isolated Complex I Deficiency	Failure to thrive, Hypoglycemia, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus, Abnor...	ORPHA:2609
Farber Lipogranulomatosis	Decreased acid ceramidase activity, Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:228000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ...	OMIM:613095
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Jaundice, Splenomegaly	OMIM:615631
Methanol Poisoning	Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus	ORPHA:31825
Aa Amyloidosis	Cholestasis, Adrenal insufficiency, Hypothyroidism, Hepatomegaly, Enlarged kidney	ORPHA:85445
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm...	ORPHA:100080
Congenitally Uncorrected Transposition Of The Great Arteries	Small for gestational age, Failure to thrive, Right ventricular hypertrophy, Cardiomegaly, Matern...	ORPHA:860
Transketolase Deficiency	Hepatomegaly, Type I diabetes mellitus, Elevated circulating ribitol concentration, Patent ductus...	ORPHA:488618
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Failure to thrive, Generaliz...	OMIM:619423
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Type I diabetes mellitus, Pancreatic hypoplasia, Camptodactyly of fin...	OMIM:602782
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Failure to thrive, Splenomegaly, Hypophosphatemia...	OMIM:239200
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Lig4 Syndrome	Hepatomegaly, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism	ORPHA:99812
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Obesity, Low alkaline phosphatase, Hypertriglyceridemia, Hypoparathyroidism, ...	ORPHA:369837
Whipple Disease	Insulin resistance, Splenomegaly, Hyponatremia, Myositis, Cachexia, Hypothyroidism, Hepatomegaly	ORPHA:3452
Chédiak-Higashi Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hypocalcemia, Cryptorchidism, Splenomegaly...	OMIM:235255
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Lower limb muscle weakness, Rhabdomyolysis, Elevated circulating creatine kinase concentration, H...	OMIM:251900
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Thyroiditis	OMIM:619375
Peroxisome Biogenesis Disorder 2A (Zellweger)	Elevated circulating long chain fatty acid concentration, Joint contracture of the hand, Failure ...	OMIM:214110
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Adrenocortical cytomegaly, Diastasis recti, Cryptorchidism, Adrenocortica...	OMIM:130650
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Hypothyroidism, Ma...	ORPHA:444077
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Triploidy	Abnormality of the gallbladder, Cryptorchidism, Omphalocele, Hepatomegaly, Macroglossia, Abnormal...	ORPHA:3376
Griscelli Syndrome	Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:381
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Hypertrig...	ORPHA:31150
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Shwachman-Diamond Syndrome 2	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Stea...	OMIM:617941
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Camptodactyly of finger	ORPHA:1759
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Simpson-Golabi-Behmel Syndrome	Hypoglycemia, Supernumerary nipple, Polysplenia, Camptodactyly of finger, Umbilical hernia, Crypt...	ORPHA:373
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Abnormal glycosphingolipid metabolism, Cardiomegaly,...	OMIM:268800
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Hepatic steatosis, Splenomegaly, Hypothy...	OMIM:615846
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:260400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Decreased testicular size, Palmoplantar hyperhidrosis, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin...	ORPHA:3455
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Immunodeficiency 32B	Hepatomegaly, Splenomegaly, Failure to thrive, Hypoalbuminemia	OMIM:226990
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm...	ORPHA:100082
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	OMIM:615895
Argininosuccinic Aciduria	Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio...	OMIM:207900
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Abnormal circulatin...	ORPHA:308552
Ataxia With Vitamin E Deficiency	Tendon xanthomatosis, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,...	OMIM:277460
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Failure to thrive, Hypocalcemia, Elevated circula...	ORPHA:289157
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Polymyositis	Chondrocalcinosis, Elevated circulating creatine kinase concentration, Elevated circulating aldol...	ORPHA:732
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Hypocalcemia, Cryptorc...	ORPHA:1655
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomeg...	OMIM:617388
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism	OMIM:249310
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Enlarged ...	OMIM:200995
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Type I diabetes mellitus, Splenomegaly	OMIM:301078
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Type I diabetes mellitus, Splenomegaly, Thyroiditis	ORPHA:436159
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hypogonadism, Elevated circulating creatinine concentration, Hepatosple...	ORPHA:85450
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Facial paralysis, S...	OMIM:259700
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis	OMIM:603776
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Beckwith-Wiedemann Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglyce...	ORPHA:116
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Glycogen Storage Disease Ii	Firm muscles, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydr...	OMIM:232300
Immunodeficiency 31C	Skeletal muscle atrophy, Splenomegaly, Hypothyroidism, Delayed puberty, Weight loss, Hepatomegaly...	OMIM:614162
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Panniculitis, Splenomegaly	ORPHA:33577
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Ascites, Hypothyroidism, Hepatomegaly, Hypoproteinemia	OMIM:226300
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas	ORPHA:1318
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,...	OMIM:618278
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Cirrhosis, Hyperhidrosis, Cryptorchidism	OMIM:305000
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Splenomegaly, Prol...	OMIM:224120
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:100075
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:616689
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue	ORPHA:199276
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hyperbilirubinemia...	OMIM:613673
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia	OMIM:233600
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Hypophosphatemia, Weight loss, Hepatomeg...	OMIM:219800
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Facial palsy, Splenomegaly	OMIM:611490
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration	ORPHA:85414
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Shwachman-Diamond Syndrome	Hypoamylasemia, Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, F...	ORPHA:811
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Flexion...	OMIM:619321
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circula...	OMIM:619424
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating calcium-phosphate regulating...	ORPHA:534
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Splenomegaly, Ragged-r...	OMIM:252010
1P36 Deletion Syndrome	Annular pancreas, Failure to thrive, Camptodactyly of finger, Hypogonadism, Abnormality of the sp...	ORPHA:1606
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatosplenome...	OMIM:615688
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil...	OMIM:613471
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly	ORPHA:163596
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Obesity, Hepatic steatosis, Hypocalcemi...	OMIM:188400
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Abnormality of thyroid physiology, Hyperlipidemia, Pancreatitis, Small for ges...	ORPHA:1830
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Ascites, H...	ORPHA:79124
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypocalcification of dental enamel, Splenomegaly, Myopathy, Amelogenesis imperfecta, Anhidrosis, ...	ORPHA:169090
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in...	OMIM:619004
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Joint contracture of the 5th finger, Hepatic steatosis	OMIM:619934
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly	OMIM:620296
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Cryptorchidis...	ORPHA:96191
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Ascites	OMIM:603278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hyperglycinemia, Hyperammonemia, ...	OMIM:251100
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Hepatomegaly, Hypoproteinemia	OMIM:603554
Microtriplication 11Q24.1	Obesity, Hyperlipidemia	ORPHA:289522
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis	ORPHA:90154
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly, Obesity	OMIM:612291
Niemann-Pick Disease, Type C1	Fetal ascites, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cho...	OMIM:257220
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Failure to thrive, Increased circulating ferritin concentration, Hyperam...	OMIM:222700
Hereditary Spherocytosis	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:822
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age	OMIM:256300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Hyperlipidemia, Breast aplasia	ORPHA:90153
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Splenomegaly, Hepatomegaly, Jaundice, Hyperkalemia, Con...	OMIM:608885
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl...	ORPHA:391665
Ogden Syndrome	Umbilical hernia, Decreased testicular size, Hyperbilirubinemia, Cryptorchidism, Inguinal hernia,...	OMIM:300855
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Increased circ...	OMIM:309000
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Primary hyper...	ORPHA:100079
Greenberg Dysplasia	Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification	OMIM:215140
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Adrenal insufficiency, Decreased liver function	OMIM:614863
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Absence of subcutaneous fat, Cryptorchidism, Reduced subcutaneous adipose tiss...	OMIM:264090
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Failure to thrive, Parotitis, Cholest...	OMIM:620376
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Porphyria, Congenital Erythropoietic	Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Elevated circulating ur...	OMIM:263700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Cryptorchidism, Hip contracture, Reduced subc...	OMIM:619503
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice	OMIM:603903
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Failure to ...	OMIM:619475
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Cryptorchidism, Elevated circulating alanine aminotrans...	OMIM:243800
Myelofibrosis	Hepatomegaly, Splenomegaly	OMIM:254450
Familial Tumoral Calcinosis	Hepatomegaly, Hyperhidrosis, Splenomegaly, Calcification of muscles	ORPHA:53715
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation	OMIM:600376
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Cellulitis, Splenomegaly, Hepatomegaly, Decreased activity of NADPH oxidase, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Cellulitis, Splenomegaly, Hepatomegaly, Decreased activity of NADPH oxidase, Liver abscess	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Cellulitis, Splenomegaly, Hepatomegaly, Decreased activity of NADPH oxidase, Liver abscess	OMIM:233690
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cirrhosis, Hepatic arteriovenous malformation	OMIM:187300
Simpson-Golabi-Behmel Syndrome, Type 1	Polysplenia, Supernumerary nipple, Umbilical hernia, Diastasis recti, Cryptorchidism, Pancreatic ...	OMIM:312870
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Splenomegaly, Hypohidrosis, Anhidrosis, Hepatomegaly, Aplasia of the sweat glands	OMIM:612132
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hydrocele testis, Hyperlipidemia, Ascites	ORPHA:567546
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia, Left ventricular hypertrophy, Hypohidro...	ORPHA:324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sec61a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sec61a1.

No publications found that use IMPC mice or data for Sec61a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sec61a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sec61a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sec61a1^{tm43111(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sec61a1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us