Gene: Onecut1 MGI:1196423

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

one cut domain, family member 1

Synonyms:

HNF6, D9Ertd423e, OC-1, Hfh12, Oc1, Hnf6

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 Onecut1 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 Onecut1 (0 diseases)
Human diseases predicted to be associated with Onecut1 (679 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Onecut1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Cholestasis, Diabetes mellitus, Intrauterine growth retardation, Hyperglyc...	OMIM:615710
Mody	Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc...	ORPHA:552
Isolated Growth Hormone Deficiency, Type Ia	Reduced circulating growth hormone concentration, Severe short stature, Prolonged neonatal jaundi...	OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Pancreatic Agenesis 1	Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Intrauterine growth retardat...	OMIM:260370
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gallbladder, Intraute...	OMIM:601346
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Increased glucagon level, Diabetes mellitus, Abnormal biliary tract mor...	ORPHA:438274
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Mahvash Disease	Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent...	OMIM:619290
Pancreatic Agenesis-Holoprosencephaly Syndrome	Neonatal insulin-dependent diabetes mellitus, Intrauterine growth retardation, Decreased circulat...	ORPHA:556955
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Diabetes mellitus, H...	OMIM:610199
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated circulating alanine aminotransferase concentration, Diabetes insipidus, Intrauterine gro...	OMIM:618500
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Diabetes mellitus, Severe intrauterine growth retardation, Hyperglycemia, ...	OMIM:609069
Biliary Atresia, Extrahepatic	Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato...	OMIM:210500
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrh...	OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 7	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo...	OMIM:610021
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Prolonged neonatal jaundice, Hypoglycemia	ORPHA:446
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormal liver parenchyma morpho...	ORPHA:3032
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Cholangiocarcinoma	Jaundice, Biliary tract neoplasm, Acholic stools	ORPHA:70567
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice	OMIM:237500
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating insulin concentration, Short stature, Elevated circula...	ORPHA:171706
Hemochromatosis, Neonatal	Cholestasis, Hepatic fibrosis, Intrauterine growth retardation, Prolonged neonatal jaundice, Cirr...	OMIM:231100
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Biliary tract abnormality, Impaired glucose tolerance, Glycosuria, Renal c...	OMIM:137920
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci...	OMIM:620010
Gallbladder Disease 1	Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev...	OMIM:600803
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Prolonged neonatal jaundice, Abnormality of the liver	ORPHA:79234
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Mild postnatal growth retardation, Abnormal liver parenchyma morphology, Diabete...	ORPHA:456312
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Intrauterine gro...	ORPHA:99885
Mirizzi Syndrome	Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ...	ORPHA:521219
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Hashimoto thyroiditis, Fulminant hepatitis, Hepatomegaly, Elevated hepatic transaminase...	OMIM:618549
Hereditary Chronic Pancreatitis	Jaundice, Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Abnormal circulati...	ORPHA:676
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala...	OMIM:619868
Low Phospholipid-Associated Cholelithiasis	Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest...	ORPHA:69663
17Q12 Microdeletion Syndrome	Cryptorchidism, Diabetes mellitus, Elevated hepatic transaminase, Short stature, Pancreatic aplas...	ORPHA:261265
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Isolated Biliary Atresia	Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal...	ORPHA:30391
Dietary Iron Overload Disease	Peritonitis, Hepatocellular carcinoma, Diabetes mellitus, Hepatic bridging fibrosis, Increased ci...	ORPHA:139507
Benign Recurrent Intrahepatic Cholestasis	Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra...	ORPHA:65682
Heart Defects, Congenital, And Other Congenital Anomalies	Pancreatic hypoplasia, Glycosuria, Diabetes mellitus, Intrauterine growth retardation, Hyperglyce...	OMIM:600001
Congenital Pancreatic Cyst	Pancreatitis, Jaundice	ORPHA:313906
Tropical Pancreatitis	Maternal diabetes, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreati...	ORPHA:103918
Galactosemia Iv	Prolonged neonatal jaundice	OMIM:618881
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Caroli Syndrome	Cholangitis, Polycystic kidney dysplasia, Jaundice, Liver abscess, Intrahepatic cholestasis, Panc...	ORPHA:480520
Congenital Bile Acid Synthesis Defect Type 1	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h...	ORPHA:79301
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Lambert Syndrome	Cholestasis, Jaundice, Intrauterine growth retardation, Intrahepatic biliary atresia	ORPHA:1296
Meckel Syndrome, Type 6	Renal cyst, Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cystic liver disease, ...	OMIM:612284
Galactosemia Ii	Prolonged neonatal jaundice	OMIM:230200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Neonatal insulin-dependent diabetes...	ORPHA:2255
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Pancreatic hypoplasia, Facial telangiectasia, Retroperitoneal fibrosis, Hepat...	OMIM:602782
Multiple Endocrine Neoplasia Type 4	Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin...	ORPHA:276152
Perlman Syndrome	Cryptorchidism, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology	ORPHA:2849
Acth Deficiency, Isolated	Fasting hypoglycemia, Adrenal hypoplasia, Jaundice, Cholestasis, Adrenocorticotropic hormone defi...	OMIM:201400
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Growth delay	ORPHA:79238
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Hypoglycemia	OMIM:609016
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Hepatomegaly, Short stature, Splenomegaly	ORPHA:172
Glycogen Storage Disease Vi	Hepatomegaly, Elevated hepatic transaminase, Postnatal growth retardation, Hypoglycemia, Increase...	OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri...	OMIM:619658
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic stea...	ORPHA:79084
Cholestasis, Progressive Familial Intrahepatic, 3	Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E...	OMIM:602347
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice	OMIM:312500
Matthew-Wood Syndrome	Cryptorchidism, Abnormal spleen morphology, Intrauterine growth retardation, Annular pancreas, Ap...	ORPHA:2470
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated hepatic transaminase, Cutaneous photosensitivity	OMIM:300752
Edinburgh Malformation Syndrome	Jaundice	OMIM:129850
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Interface hepatitis, Cholestatic liver disease, Granulomatous cholangitis, Cholestasis, Abnormali...	ORPHA:562639
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly	OMIM:206400
Sclerosing Cholangitis, Neonatal	Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep...	OMIM:617394
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Diabetes mellitus, Elevated hepatic transaminase, Abnormality of exocrine pancreas phys...	ORPHA:93111
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen	ORPHA:1666
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone...	ORPHA:71526
Rotor Syndrome	Jaundice, Intermittent jaundice, Storage in hepatocytes, Abnormal circulating enzyme concentratio...	ORPHA:3111
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ...	OMIM:147630
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or...	ORPHA:276580
Galactosemia Iii	Jaundice, Decreased beta-galactosidase activity, Hepatomegaly, Splenomegaly	OMIM:230350
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor...	ORPHA:453533
Hyperbilirubinemia, Rotor Type	Jaundice	OMIM:237450
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Hypothyroidism, Intrauterine growth retardation, Hyperglycemia, Transient neon...	ORPHA:99886
Shwachman-Diamond Syndrome	Pancreatic hypoplasia, Hypopituitarism, Diabetes mellitus, Hepatomegaly, Elevated hepatic transam...	ORPHA:811
Neonatal Alloimmune Neutropenia	Maternal diabetes, Jaundice	ORPHA:464370
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly	OMIM:224100
Bile Acid Synthesis Defect, Congenital, 3	Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra...	OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol...	ORPHA:79302
Nephronophthisis 19	Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ...	OMIM:616217
Jaundice, Familial Obstructive, Of Infancy	Jaundice	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Jaundice	OMIM:606785
Cog7-Cdg	Hepatosplenomegaly, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Excessive wrinkled ski...	ORPHA:79333
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hepatomegaly, Elevated...	OMIM:615158
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Intrauter...	ORPHA:436252
Cholestasis, Progressive Familial Intrahepatic, 8	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci...	OMIM:619662
Renal-Hepatic-Pancreatic Dysplasia 1	Polycystic kidney dysplasia, Biliary cirrhosis, Asplenia, Cholestasis, Bile duct proliferation, H...	OMIM:208540
Crigler-Najjar Syndrome, Type I	Jaundice	OMIM:218800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Fasting hypoglycemia, Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hyperglycemia, Acute pancreatitis, Increased subcutaneous truncal adipose tissue, P...	OMIM:608600
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Pancreatic Colipase Deficiency	Cholelithiasis, Growth delay, Exocrine pancreatic insufficiency	ORPHA:309108
Cholestasis-Lymphedema Syndrome	Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Cirrho...	OMIM:214900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,...	OMIM:301045
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,...	ORPHA:276608
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Hypogonadism, Elevated hepatic transaminase, Giant cell hepatitis, Typ...	ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi...	OMIM:619849
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Short stature	ORPHA:96097
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Cryptorchidism, Hepatomegaly, Intrauterine growth retardation, Biliary hyp...	ORPHA:83617
Congenital Disorder Of Glycosylation, Type Iio	Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Elevate...	OMIM:616828
Congenital Rubella Syndrome	Jaundice, Intrauterine growth retardation, Hepatomegaly, Short stature, Type I diabetes mellitus,...	ORPHA:290
Thyroid Hemiagenesis	Jaundice, Thyroid agenesis, Growth delay	ORPHA:95719
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Type II dia...	OMIM:616860
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice	OMIM:619256
Hepatic Veno-Occlusive Disease	Jaundice, Hepatomegaly, Elevated hepatic transaminase	ORPHA:890
Hyperinsulinism Due To Hnf1A Deficiency	Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu...	ORPHA:324575
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Jaundice, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis...	OMIM:617093
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice, Hepatomegaly	OMIM:243300
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Coproporphyria, Hereditary	Cutaneous photosensitivity, Jaundice, Hepatomegaly, Splenomegaly	OMIM:121300
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Portal ...	OMIM:616278
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice	ORPHA:79235
Autosomal Erythropoietic Protoporphyria	Erythema, Cirrhosis, Decreased liver function, Cholelithiasis, Cutaneous photosensitivity	ORPHA:79278
Cholesteryl Ester Storage Disease	Jaundice, Adrenal calcification, Hepatomegaly, Cirrhosis, Hepatic failure, Splenomegaly	ORPHA:75234
Donohue Syndrome	Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,...	OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 1	Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Short stature, Cirrhosis...	OMIM:211600
Zollinger-Ellison Syndrome	Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Jaundice, Er...	ORPHA:913
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated hepatic transaminase	OMIM:143500
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function	OMIM:614156
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatocellular carcinoma, Delayed puberty, Hepatic fibrosis, Hepatomegaly, Elevated hepatic trans...	ORPHA:369
Disorder Of Bile Acid Synthesis	Biliary tract abnormality, Cholestasis, Elevated hepatic transaminase, Abnormality of the liver	ORPHA:79168
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Intrauterine growth retardation, Short stature	OMIM:300712
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Reduced circulating growth hormone concentration, Hypopituitarism, Jaundice, Impaired growth-horm...	OMIM:613038
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Short stature, Hypothyroidism	ORPHA:2349
Meckel Syndrome, Type 7	Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Portal hypertension, Pancreatic cysts, ...	OMIM:267010
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Renal cyst, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic tr...	ORPHA:79303
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Abnormal liver sonography, Elevated circulating aspartate aminotransfe...	ORPHA:90003
Liver Disease, Severe Congenital	Pancreatic hypoplasia, Peritonitis, Jaundice, Intrahepatic cholestasis, Abnormal circulating thyr...	OMIM:619991
Cholestasis-Lymphedema Syndrome	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,...	ORPHA:1414
Cyanosis, Transient Neonatal	Cyanosis, Jaundice, Hepatomegaly	OMIM:613977
Alpha-Thalassemia	Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly	ORPHA:846
Hydroxykynureninuria	Jaundice	OMIM:236800
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Congenital Toxoplasmosis	Jaundice, Hepatomegaly, Intrauterine growth retardation, Elevated hepatic transaminase	ORPHA:858
Permanent Congenital Hypothyroidism	Goiter, Jaundice, Thyroid dysgenesis, Short stature, Hypothyroidism	ORPHA:226292
Plin1-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepa...	ORPHA:280356
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Jaundice, Neoplasm of the liver, Diabetes mellitus, Elevated hepatic transami...	ORPHA:1333
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Hepatomegaly, Abnormality of the liver	ORPHA:234
Alg6-Cdg	Jaundice, Abnormality of the liver, Puberty and gonadal disorders, Abnormal circulating enzyme co...	ORPHA:79320
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated hepatic transaminase, Hypoglycemia	OMIM:616483
Classic Galactosemia	Delayed puberty, Jaundice, Cryptorchidism, Hepatomegaly, Elevated hepatic transaminase, Decreased...	ORPHA:79239
Meckel Syndrome, Type 3	Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Hyperinsulinism Due To Ucp2 Deficiency	Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hepat...	ORPHA:276556
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Splenomegaly	OMIM:237800
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypogonadism, Abnormality of the liver, D...	ORPHA:231222
Cholestasis, Intrahepatic, Of Pregnancy, 1	Abnormal liver function tests during pregnancy, Jaundice, Elevated hepatic transaminase, Intrahep...	OMIM:147480
Cystic Echinococcosis	Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re...	ORPHA:400
Nephronophthisis 13	Intrahepatic bile duct dilatation, Growth delay, Pancreatic cysts, Hepatic cysts	OMIM:614377
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Prolonged neonatal jaundice	OMIM:618512
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Jaundice, Hepatomegaly, Intrauterine growth retardation, ...	OMIM:266200
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Type II diabetes mellitus, Short stature	ORPHA:3191
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Polycystic ovaries, Cirrhosis, Hyperinsulinemia, Hyperglycemia, Reduced subcut...	OMIM:604367
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver	ORPHA:205
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Jaundice, Intrahepatic cholestasis	OMIM:614972
Wolcott-Rallison Syndrome	Acute hepatic failure, Jaundice, Neonatal insulin-dependent diabetes mellitus, Abnormality of the...	ORPHA:1667
Hepatorenocardiac Degenerative Fibrosis	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal cyst, Hepatic bridging fibrosis, El...	OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 5	Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala...	OMIM:617049
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Intrauterine growth retardation, Growth delay	ORPHA:171929
Maturity-Onset Diabetes Of The Young, Type 10	Diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Maturity-onset diabetes of the...	OMIM:613370
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por...	OMIM:607626
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Pigment gallstones, Decreased glucosephosphate isomerase level, Cholecystitis, Cholelit...	OMIM:613470
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Erythema	OMIM:177000
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypothyroidism, Short stature, Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyr...	OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Short st...	OMIM:601847
Bile Acid Conjugation Defect 1	Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala...	OMIM:619232
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Precocious puberty	ORPHA:96092
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Pancreatitis, Hereditary	Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Exocrine pancre...	OMIM:167800
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Dermatographic urticaria	OMIM:619480
Bangstad Syndrome	Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, I...	ORPHA:1227
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Short stature, Growth delay, Hypoglycemia, Decreased serum insulin-like growth f...	ORPHA:314802
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Splenomegaly, Exocrine pancreatic insufficiency	OMIM:612714
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Hepatomegaly, Short stature, Growth delay, Splenomegaly	OMIM:615631
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Growth delay, Splenomegaly, Hypoglycemia, Increased hepatic glycogen...	OMIM:261750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Short stature	ORPHA:163979
Parenteral Nutrition-Associated Cholestasis	Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert...	ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 37	Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, Elevated gamma-...	OMIM:618329
Congenital Isolated Acth Deficiency	Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient adrenal insufficiency, P...	ORPHA:199296
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal cyst, Bile duct proliferation, Hepatic fibrosis, Short stature, Pancreatic cysts,...	OMIM:208500
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Goiter, Prolonged neonatal jaundice, Decreased circulating T4 concentration, Decreased thyroid-st...	ORPHA:95715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated hepatic transaminase, Periportal fibrosis, Depletion of mitochon...	OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci...	OMIM:618528
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Meckel Syndrome, Type 2	Bile duct proliferation, Intrauterine growth retardation, Renal cyst	OMIM:603194
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619048
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog...	ORPHA:293964
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hepatomegaly, Splenomegaly	OMIM:603552
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Cholestatic liver disease, Glycosuria, Nephrogenic diabetes insipidus, Hepatomegaly, El...	OMIM:613404
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Elevated h...	OMIM:618641
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Severe postnatal growth retardation...	OMIM:262700
Solitary Fibrous Tumor	Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypoinsulinemia, Hy...	ORPHA:2126
Wolfram-Like Syndrome	Delayed puberty, Severe postnatal growth retardation, Diabetes mellitus, Primary gonadal insuffic...	ORPHA:411590
Galactosemia	Jaundice, Cryptorchidism, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Abnormal circul...	ORPHA:352
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid...	ORPHA:95717
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Neonatal death	OMIM:617925
Ppoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Adrenocortical adenoma,...	ORPHA:97278
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypogonadotropic hypogonadism	ORPHA:848
Glycogen Storage Disease Iii	Hepatic fibrosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hypoglycemia	OMIM:232400
Caroli Disease	Cholangitis, Polycystic kidney dysplasia, Jaundice, Liver abscess, Intrahepatic cholestasis, Chol...	ORPHA:53035
Resistance To Thyrotropin-Releasing Hormone Syndrome	Goiter, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Decreased cir...	ORPHA:99832
Retinitis Pigmentosa 89	Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis	OMIM:618955
Trisomy 8P	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Annular pancreas	ORPHA:264450
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Jaundice	ORPHA:33574
Meckel Syndrome, Type 4	Bile duct proliferation, Intrauterine growth retardation, Renal cyst	OMIM:611134
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Decreased circulating parathyroid hormone level, Asplenia, Chronic active hepatitis, Hypoparathyr...	OMIM:240300
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly	OMIM:179700
Thyroid Hypoplasia	Jaundice, Short stature, Growth delay, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Insulinoma	Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormality o...	ORPHA:97279
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Jaundice, Hypothyroidism, Elevated hepatic transaminase, Ele...	ORPHA:69665
Bile Acid Synthesis Defect, Congenital, 1	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Giant...	OMIM:607765
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Glycogen Storage Disease Vii	Elevated circulating aldolase concentration, Cholelithiasis, Jaundice, Increased circulating lact...	OMIM:232800
Generalized Pseudohypoaldosteronism Type 1	Increased circulating renin level, Abnormal circulating aldosterone, Glucocortocoid-insensitive p...	ORPHA:171876
Somatostatinoma	Gallbladder dysfunction, Elevated circulating growth hormone concentration, Intermittent jaundice...	ORPHA:97283
Vipoma	Elevated circulating growth hormone concentration, Erythema, Intermittent jaundice, Adrenocortica...	ORPHA:97282
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Delayed puberty, Abnormal circulating thyroid hormone concentrati...	ORPHA:480880
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating...	OMIM:619386
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Elevated circula...	OMIM:235555
Primary Sclerosing Cholangitis	Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Spider hemangioma, Cholelithiasis, ...	ORPHA:171
Familial Thyroid Dyshormonogenesis	Goiter, Positive perchlorate discharge test, Prolonged neonatal jaundice, Decreased circulating T...	ORPHA:95716
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts	OMIM:616307
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Elevated circulating aspartate aminotr...	OMIM:256810
Alveolar Echinococcosis	Cholangitis, Jaundice, Biliary cirrhosis, Liver abscess, Abnormal spleen morphology, Renal cyst, ...	ORPHA:284
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Jaundice, Cholecystitis, Splenomegaly	OMIM:235700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Jaundice, Cholestasis, Elevated hepatic transaminase, Intrauterine growth retardation, Cirrhosis,...	OMIM:617156
Zttk Syndrome	Absent gallbladder, Intrauterine growth retardation, Short stature, Growth delay	OMIM:617140
Babesiosis	Hepatic failure, Hepatomegaly, Splenomegaly, Jaundice	ORPHA:108
Peroxisome Biogenesis Disorder 13A (Zellweger)	Jaundice, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis...	OMIM:614887
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat...	ORPHA:79644
Multiple Acyl-Coa Dehydrogenase Deficiency	Polycystic kidney dysplasia, Jaundice, Renal cortical cysts, Glycosuria, Hepatomegaly, Neonatal d...	OMIM:231680
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Hepat...	ORPHA:263455
Grfoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Adrenocortical adenoma,...	ORPHA:97261
Pediatric-Onset Graves Disease	Graves disease, Goiter, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Intrauterine growt...	ORPHA:525731
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Diabetes mellitus, Hypothyroidism, Hepatic fibrosis, Hepatomegaly, Short stature...	OMIM:616263
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Campomelia, Cumming Type	Polycystic kidney dysplasia, Short stature, Polysplenia, Pancreatic cysts, Polycystic liver disease	OMIM:211890
Aceruloplasminemia	Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Abnormal pancreas morphology, Abnormal circulatin...	ORPHA:48818
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Elevated hepatic transaminase, Short stature, Hyperinsulinemia	ORPHA:329249
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Hemochromatosis, Type 4	Impaired glucose tolerance, Diabetes mellitus, Hepatomegaly, Cirrhosis, Glucose intolerance, Hepa...	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Goiter, Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating...	ORPHA:226313
Spherocytosis, Type 1	Cholelithiasis, Jaundice, Splenomegaly	OMIM:182900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Jaundice, Increased circulating ACTH level, Decreased circulating cortisol l...	ORPHA:90790
Glycogen Storage Disease Xii	Delayed puberty, Jaundice, Elevated circulating alanine aminotransferase concentration, Hepatomeg...	OMIM:611881
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated hepatic transaminase, Growth delay, Splenomegaly, Hypoglycemia	OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Glycogen Storage Disease Ib	Hepatocellular carcinoma, Delayed puberty, Pancreatitis, Hepatomegaly, Elevated hepatic transamin...	OMIM:232220
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Cholangitis, Jaundice, Polycystic kidney dysplasia, Cholestasis, Congenital h...	ORPHA:731
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hypoglycemia	OMIM:620137
Peroxisome Biogenesis Disorder 7A (Zellweger)	Jaundice, Hepatomegaly	OMIM:614872
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia	ORPHA:35
Dominant Beta-Thalassemia	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypopituitarism, Delayed puberty, Chronic...	ORPHA:231226
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase	OMIM:246900
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Intrauterine growth retardation, Hepatomegaly, Elevated hepatic transaminase, Hyp...	OMIM:618958
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Wilson Disease	Acute hepatic failure, Acute hepatitis, Jaundice, Bruising susceptibility, Hepatomegaly, Elevated...	ORPHA:905
Familial Atrial Myxoma	Cholestasis, Jaundice	ORPHA:615
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Tetrasomy 9P	Jaundice, Cryptorchidism, Multiple renal cysts, Intrauterine growth retardation, Biliary atresia,...	ORPHA:3310
Klatskin Tumor	Extrahepatic cholestasis, Jaundice, Hepatomegaly, Cholangiocarcinoma	ORPHA:99978
Hereditary Elliptocytosis	Jaundice, Prolonged neonatal jaundice, Cholelithiasis, Postnatal growth retardation, Splenomegaly	ORPHA:288
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Diabetes mellitus, Acute pancreatitis, Hepa...	ORPHA:444490
Hepatoportal Sclerosis	Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc...	ORPHA:64743
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Neonatal hypoglycemia, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Poly...	OMIM:619418
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Neoplasm of the liver, Biliary tract obstruction, Intrahepatic cholestasis...	ORPHA:100085
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Jaundice, Cholestatic liver disease, Nephrogenic diabetes insipidus, Elevated hepatic transaminas...	OMIM:208085
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Cryptorchidism, Hepatomegaly, In...	OMIM:214110
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Growth delay, Cholelithiasis, Hepatic failure	OMIM:614886
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia	OMIM:614741
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus, Intrauterine growth retardation	OMIM:601410
Autoimmune Hepatitis	Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ...	ORPHA:2137
Igg4-Related Thyroid Disease	Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hypothyroidism, Hashi...	ORPHA:64744
Budd-Chiari Syndrome	Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho...	ORPHA:131
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Estrogen Resistance	Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Polycystic ...	OMIM:615363
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasi...	ORPHA:100086
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly	OMIM:194380
Congenital Disorder Of Glycosylation, Type Iie	Jaundice, Elevated circulating aspartate aminotransferase concentration, Excessive wrinkled skin,...	OMIM:608779
Cirrhosis, Familial	Jaundice, Fulminant hepatitis, Cirrhosis, Micronodular cirrhosis, Biliary cirrhosis	OMIM:215600
Sialuria	Hepatosplenomegaly, Cholelithiasis, Hepatomegaly, Elevated hepatic transaminase	ORPHA:3166
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Short stature, Hyperinsulinemia, H...	ORPHA:3085
Harderoporphyria	Cutaneous photosensitivity, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:618892
Beta-Thalassemia Major	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypopituitarism, Delayed puberty, Diabete...	ORPHA:231214
Glucagonoma	Elevated circulating growth hormone concentration, Intermittent jaundice, Adrenocortical adenoma,...	ORPHA:97280
North American Indian Childhood Cirrhosis	Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis	OMIM:604901
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, ...	OMIM:261680
Hemolytic Anemia, Congenital, X-Linked	Jaundice	OMIM:301015
Bile Acid Synthesis Defect, Congenital, 4	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatome...	OMIM:214950
Bdv Syndrome	Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati...	OMIM:619326
Hardikar Syndrome	Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Decreased liver function, Intrahepatic bi...	OMIM:301068
Pancreatoblastoma	Jaundice, Pancreatic calcification	ORPHA:677
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis...	ORPHA:363400
Niemann-Pick Disease, Type A	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:257200
Primary Biliary Cholangitis	Hepatocellular carcinoma, Jaundice, Dermatographic urticaria, Abnormality of the thyroid gland, H...	ORPHA:186
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Ovarian neoplasm, Biliary tract neoplasm	ORPHA:157798
Hyperinsulinism Due To Insr Deficiency	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan...	ORPHA:263458
Griscelli Syndrome	Jaundice, Premature graying of hair, Hepatomegaly, Short stature, Hepatitis, Splenomegaly	ORPHA:381
Insulin-Resistance Syndrome Type B	Fasting hypoglycemia, Increased serum testosterone level, Glycosuria, Abnormal salivary gland mor...	ORPHA:2298
Fanconi-Bickel Syndrome	Hepatocellular carcinoma, Fasting hypoglycemia, Impaired glucose tolerance, Elevated circulating ...	ORPHA:2088
Hereditary Fructose Intolerance	Jaundice, Reduced circulating aldolase concentration, Hepatomegaly, Chronic hepatic failure, Reac...	ORPHA:469
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Growth delay, Cholelithiasis, Splenomegaly	ORPHA:822
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Goiter, Prolonged neonatal jaundice, De...	ORPHA:226316
Griscelli Syndrome Type 2	Jaundice, Premature graying of hair, Hepatomegaly, Petechiae, Splenomegaly	ORPHA:79477
Mpi-Cdg	Hypothyroidism, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Decreased liver function, Hy...	ORPHA:79319
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Severe postnatal growth retardation, Cholestasis, Postprandial hypergl...	ORPHA:440713
Tropical Calcific Pancreatitis	Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas,...	OMIM:608189
Liver Failure, Infantile, Transient	Acute hepatic failure, Jaundice, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:613070
Galactokinase Deficiency	Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Abnormal circ...	ORPHA:79237
Fanconi Anemia, Complementation Group Q	Short stature, Biliary atresia, Growth delay	OMIM:615272
Pituitary Hormone Deficiency, Combined, 2	Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr...	OMIM:262600
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Intrauterine growth retardation	OMIM:618775
Temple Syndrome	Cryptorchidism, Recurrent hypoglycemia, Short stature, Decreased response to growth hormone stimu...	ORPHA:254516
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased circulating lactate dehydrogenase concentration, Jaundice, Hepatomegaly	OMIM:613839
Allan-Herndon-Dudley Syndrome	Short stature, Abnormality of thyroid physiology, Cryptorchidism, Prolonged neonatal jaundice	ORPHA:59
Thyroid Ectopia	Jaundice, Abnormality of the thyroid gland, Hypothyroidism, Short stature, Ectopic thyroid, Growt...	ORPHA:95712
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Decreased response to growt...	ORPHA:485405
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Chronic hepatic fa...	ORPHA:465508
Cimdag Syndrome	Cholelithiasis, Hepatomegaly, Microvesicular hepatic steatosis, Hypogonadism	OMIM:619273
Immunodeficiency 59 And Hypoglycemia	Short stature, Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia	OMIM:233600
Peripheral Primitive Neuroectodermal Tumor	Jaundice, Neoplasm of the pancreas, Pancreatitis, Increased circulating lactate dehydrogenase con...	ORPHA:370348
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Short stature, Glucose i...	OMIM:615630
Feingold Syndrome	Short stature, Annular pancreas, Abnormality of the spleen	ORPHA:1305
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Cholestasis, Cholesterol gallstones, Hepatitis, Hepatic steatosis, Acute hepatic steatosis, Macro...	ORPHA:209902
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Jaundice, Multiple renal cysts, Hepatomegaly, Elevated circulating a...	OMIM:613095
Evans Syndrome	Jaundice, Petechiae, Bruising susceptibility	ORPHA:1959
X-Linked Sideroblastic Anemia	Glucose intolerance, Elevated hepatic transaminase, Splenomegaly	ORPHA:75563
Aicardi-Goutieres Syndrome 1	Erythema, Diabetes insipidus, Hepatomegaly, Short stature, Prolonged neonatal jaundice, Elevated ...	OMIM:225750
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Recurrent hypoglycemia, Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transam...	ORPHA:20
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin...	ORPHA:411593
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:266150
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul...	OMIM:615954
Post-Traumatic Pituitary Deficiency	Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test...	ORPHA:95619
Joubert Syndrome 18	Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst	OMIM:614815
Acquired Generalized Lipodystrophy	Polycystic ovaries, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Hepatic steato...	ORPHA:79086
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Impaired sensitivity to thyroid stimulating hormone, Compensated hypothyroidism, Prolonge...	ORPHA:90673
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Bile duct proliferation, Elevated hepatic transaminase, Intrauterine growth retardat...	OMIM:613658
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Proportionate short stature, Intrauterine growth retardation	ORPHA:500150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypopituitarism, Inappropriate antidiuretic hormone secretion, Anterior pituitary hypoplasia, Pro...	ORPHA:226307
Reynolds Syndrome	Jaundice, Mucosal telangiectasiae, Hepatomegaly, Cirrhosis, Telangiectasia of the skin, Generaliz...	ORPHA:779
Lipodystrophy, Familial Partial, Type 2	Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Reduced su...	OMIM:151660
Sickle Cell Anemia	Cholestasis, Increased circulating lactate dehydrogenase concentration, Abnormality of the spleen...	ORPHA:232
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Essential Fructosuria	Hyperglycemia, Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or ac...	ORPHA:2056
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ...	OMIM:615925
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Primary hypothyroidism, Growth delay	ORPHA:96176
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia	OMIM:240600
Retinitis Pigmentosa	Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia	ORPHA:791
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Cholestatic liver disease, Bruising susceptibility, Hepatomegaly, Elevated hepatic tran...	ORPHA:540
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Decreased liver function	OMIM:618437
Congenital Hypothyroidism	Goiter, Thyroid dysgenesis, Abnormality of the thyroid gland, Hypogonadism, Angiokeratoma corpori...	ORPHA:442
Isolated Thyroid-Stimulating Hormone Deficiency	Goiter, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Decreased cir...	ORPHA:90674
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormality of the submandibular glands, Abnormality of the thyroid gland, Abnormal ...	ORPHA:449432
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice, Splenomegaly	ORPHA:766
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Fulminant hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia, Gr...	OMIM:231530
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Abnormality of the li...	ORPHA:88673
Coach Syndrome 1	Renal cyst, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Multiple sm...	OMIM:216360
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Diabetes insipidus, Intrauterine growth retardation, Prolonged neonatal jaundice	ORPHA:423479
Immunodeficiency 54	Hepatomegaly, Short stature, Intrauterine growth retardation, Adrenal insufficiency, Adrenocortic...	OMIM:609981
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Splenomegaly, Hyperinsulinemia	ORPHA:66518
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia	ORPHA:5
Sickle Cell Disease	Jaundice, Splenic infarction, Hepatomegaly, Cholelithiasis, Splenomegaly	OMIM:603903
Gaucher Disease Type 1	Delayed puberty, Biliary tract obstruction, Bruising susceptibility, Hepatomegaly, Cirrhosis, Hyp...	ORPHA:77259
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Postprandial hyperglycemia, Short stature, Hyperinsulinemia, Hyperglycemia,...	OMIM:262190
Immunodeficiency 47	Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated circulating ...	OMIM:300972
Spondyloepimetaphyseal Dysplasia, Krakow Type	Bruising susceptibility, Rhizomelia, Elevated circulating alkaline phosphatase concentration, Ann...	OMIM:618162
D-Bifunctional Protein Deficiency	Renal cyst, Cholestasis, Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, He...	OMIM:261515
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia	OMIM:201910
Peutz-Jeghers Syndrome	Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, ...	OMIM:175200
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal thyroi...	OMIM:616113
Legionnaires Disease	Hepatitis, Pancreatitis, Jaundice, Splenomegaly	ORPHA:549
Triosephosphate Isomerase Deficiency	Jaundice, Prolonged neonatal jaundice, Cholecystitis, Cholelithiasis, Splenomegaly	OMIM:615512
Seckel Syndrome 10	Impaired glucose tolerance, Severe short stature, Elevated circulating aspartate aminotransferase...	OMIM:617253
Congenital Generalized Lipodystrophy	Diabetes mellitus, Polycystic ovaries, Precocious puberty in females, Hepatomegaly, Cirrhosis, Hy...	ORPHA:528
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Elevated hepatic transaminase, Decreased liver function, Petechiae, Splen...	OMIM:251290
Zellweger Syndrome	Jaundice, Cryptorchidism, Hepatomegaly, Short stature, Hepatic failure, Multicystic kidney dyspla...	ORPHA:912
Peroxisome Biogenesis Disorder 6B	Delayed menarche, Prolonged neonatal jaundice, Decreased liver function	OMIM:614871
Trichohepatoenteric Syndrome 1	Renal cortical microcysts, Jaundice, Cholestasis, Hepatic fibrosis, Hepatomegaly, Intrauterine gr...	OMIM:222470
Pituitary Hormone Deficiency, Combined, 6	Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Short stature, Decreased...	OMIM:613986
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Decreased testicular size, Cryptorchidism, Short stature	OMIM:300534
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased circulating lactate dehydrogenase concentration, Portal vein thr...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619525
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Cryptorchidism, Elevated hepatic transaminase	OMIM:608093
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Short stature, Delayed thelarche, Hype...	OMIM:616033
Hyperlipoproteinemia, Type I	Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly	OMIM:238600
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly, Hypoglycemia	ORPHA:664
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad...	ORPHA:66628
Shwachman-Diamond Syndrome 2	Hyperechogenic pancreas, Hepatomegaly, Short stature, Exocrine pancreatic insufficiency	OMIM:617941
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transaminase	ORPHA:26793
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Neonatal hypoglycemia, Fasting hyperinsulinemia, Elevated hepatic transami...	ORPHA:71212
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase	ORPHA:2394
Distal Deletion 12Q	Polycystic kidney dysplasia, Diabetes mellitus, Short stature, Growth delay, Biliary atresia, Mat...	ORPHA:96149
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Breast hypoplasia, Hyperinsulinemia, Glucose i...	ORPHA:785
Prolidase Deficiency	Diffuse telangiectasia, Elevated circulating aspartate aminotransferase concentration, Hepatomega...	OMIM:170100
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase	ORPHA:156
Citrullinemia, Type Ii, Adult-Onset	Hepatocellular carcinoma, Pancreatitis, Elevated circulating alanine aminotransferase concentrati...	OMIM:603471
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad...	ORPHA:179494
Codas Syndrome	Extrahepatic biliary duct atresia, Short stature	ORPHA:1458
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Prolonged neonatal jaundice, Increased circulating lactate dehydrogenase concentrat...	OMIM:224120
Hemochromatosis, Type 1	Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Elevated hepatic t...	OMIM:235200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Delayed puberty, Abnormal erythrocyte enzyme level, Hepatocellular adenoma,...	ORPHA:264580
Nabais Sa-De Vries Syndrome, Type 1	Prolonged neonatal jaundice	OMIM:618828
Bohring-Opitz Syndrome	Short stature, Cholelithiasis, Intrauterine growth retardation, Annular pancreas	ORPHA:97297
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Pancreatic fibrosis	OMIM:615503
Maple Syrup Urine Disease	Pancreatitis, Hypoglycemia	OMIM:248600
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatomegaly, Elevated hepatic transaminase, Macronodular cirrhosis, Pancreatic fibrosi...	OMIM:557000
Pearson Syndrome	Cutaneous photosensitivity, Hypoplastic spleen, Glycosuria, Abnormality of the liver, Diabetes me...	ORPHA:699
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fai...	OMIM:602579
Atelosteogenesis Type I	Rhizomelia, Neonatal short-trunk short stature, Multiple renal cysts, Abnormal pancreatic duct mo...	ORPHA:1190
Bare Lymphocyte Syndrome, Type Ii	Biliary tract abnormality, Cholangitis, Viral hepatitis	OMIM:209920
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatosplenomegaly, Polycystic kidney dysplasia, Jaundice, Cryptorchidism, Renal cortical microcy...	OMIM:614866
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Elevated hepatic transaminase, Decrea...	ORPHA:94086
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatosplenomegaly, Hepatomegaly, Cholecystitis, Cholelithiasis, Hypoglycemia, Precocious puberty	OMIM:301066
Metachromatic Leukodystrophy	Hemobilia, Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology...	ORPHA:512
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Jaundice, Bile duct proliferation, Hepatomegaly, Elevated hepatic transami...	OMIM:203700
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice	OMIM:618868
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal cyst, Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Neo...	OMIM:263200
Wilson Disease	Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Atypical or prolonged hepatitis, Eleva...	OMIM:277900
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:185000
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase	OMIM:201450
Spherocytosis, Type 5	Jaundice, Splenomegaly	OMIM:612690
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Short stature, Growth delay, Elevated gamma-glutamyltransferase level, Sp...	OMIM:608885
Pituitary Stalk Interruption Syndrome	Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Diabetes insipidus, Short stature, Ectopic p...	ORPHA:95496
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Hepatomegaly, Splenomegaly	OMIM:616689
Glycogen Storage Disease Ia	Hepatocellular carcinoma, Fasting hypoglycemia, Delayed puberty, Pancreatitis, Hepatomegaly, Elev...	OMIM:232200
Porphyria, Congenital Erythropoietic	Cutaneous photosensitivity, Jaundice, Hepatomegaly, Short stature, Cholelithiasis, Splenomegaly	OMIM:263700
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Pancreatitis, Hepatomegaly, Short stature, Hypoglycemia	OMIM:606054
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Diabetes mellitus, Hepatomegaly, Elevated hepatic transaminase, Short stature, Elevat...	OMIM:616026
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal dysplasia	OMIM:200995
Hereditary Hemorrhagic Telangiectasia	Retinal telangiectasia, Mucosal telangiectasiae, Cirrhosis, Portal hypertension, Cholecystitis, S...	ORPHA:774
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Osteootohepatoenteric Syndrome	Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Portal fibrosis, Microvesicular hepat...	OMIM:619377
Alstrom Syndrome	Chronic active hepatitis, Multinodular goiter, Diabetes insipidus, Hepatomegaly, Elevated hepatic...	OMIM:203800
Alagille Syndrome	Delayed puberty, Cryptorchidism, Cholestasis, Hepatomegaly, Intrauterine growth retardation, Redu...	ORPHA:52
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Campomelia, Cumming Type	Multiple renal cysts, Hepatomegaly, Prematurely aged appearance, Pancreatic cysts, Abnormality of...	ORPHA:1318
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:227810
Relapsing Fever	Increased circulating lactate dehydrogenase concentration, Jaundice, Elevated hepatic transaminase	ORPHA:91547
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort...	OMIM:600955
Sotos Syndrome	Glucose intolerance, Neonatal hypoglycemia, Cryptorchidism, Prolonged neonatal jaundice	OMIM:117550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Fasting hypoglycemia, Ketotic hypoglycemia, Hepatocellular adenoma, Pol...	ORPHA:79240
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Cryptorchidism	OMIM:175700
Short Syndrome	Intrauterine growth retardation, Birth length less than 3rd percentile, Hyperglycemia, Glucose in...	OMIM:269880
Spherocytosis, Type 4	Jaundice, Splenomegaly	OMIM:612653
Trichohepatoneurodevelopmental Syndrome	Recurrent pancreatitis, Hypoplastic nipples, Hepatomegaly, Elevated circulating alkaline phosphat...	OMIM:618268
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Splenomegaly	ORPHA:90033
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Elevated circulating aspartate aminotransferase concentration, Chronic hepatitis...	OMIM:614921
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Postprandial hyperglycemia, Elevated hepatic transaminase, Short stature, Ketotic hyp...	ORPHA:2089
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Jaundice, Inappropriate antidiuretic hormone secretion, Hepatomegaly, Chronic...	ORPHA:79124
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Cranioectodermal Dysplasia 2	Cholangitis, Renal cyst, Cholestasis, Bile duct proliferation, Rhizomelia, Hepatomegaly, Elevated...	OMIM:613610
Obsolete: Primary Pigmented Nodular Adrenocortical Disease	Adrenal hyperplasia, Plethora, Dorsocervical fat pad, Bruising susceptibility, Diabetes mellitus,...	ORPHA:189439
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p...	ORPHA:769
Joubert Syndrome 8	Hepatomegaly, Prolonged neonatal jaundice	OMIM:612291
Bardet-Biedl Syndrome 1	Biliary tract abnormality, Decreased testicular size, Hypogonadism, Abnormality of the ovary, Dia...	OMIM:209900
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Growth delay, Neonatal death, Neonatal hypoglycemia	OMIM:617248
Fructose Intolerance, Hereditary	Jaundice, Glycosuria, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic steatosis, ...	OMIM:229600
Reynolds Syndrome	Jaundice, Lip telangiectasia, Cholestasis, Hepatomegaly, Elevated hepatic transaminase, Elevated ...	OMIM:613471
Mandibuloacral Dysplasia With Type A Lipodystrophy	Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Reduced subcutaneous a...	OMIM:248370
Elliptocytosis 1	Jaundice, Splenomegaly	OMIM:611804
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Abnorma...	ORPHA:42
Niemann-Pick Disease, Type C2	Low cholesterol esterification rate, Jaundice, Hepatomegaly, Prolonged neonatal jaundice, Splenom...	OMIM:607625
Spherocytosis, Type 2	Jaundice, Splenomegaly	OMIM:616649
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Pancreatitis, Hepatomegaly, Hypoglycemia	OMIM:251000
Niemann-Pick Disease, Type C1	Low cholesterol esterification rate, Fatal liver failure in infancy, Hepatomegaly, Prolonged neon...	OMIM:257220
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Intrauterine growth retardation, Growth delay	ORPHA:79284
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin...	OMIM:614736
Lassa Fever	Jaundice	ORPHA:99824
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Neoplasm of the liver, Hepatomegaly, Short stature, Cirrhosis, Hypersplenism, De...	ORPHA:77293
Bone Marrow Failure Syndrome 3	Cryptorchidism, Pancreatic steatosis, Intrauterine growth retardation, Short stature, Hyperechoge...	OMIM:617052
Familial Adenomatous Polyposis	Goiter, Abnormality of the thyroid gland, Biliary tract obstruction, Pancreatitis, Hepatoblastoma...	ORPHA:733
Letterer-Siwe Disease	Hepatosplenomegaly, Jaundice	OMIM:246400
Rh-Null, Regulator Type	Jaundice	OMIM:268150
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hy...	OMIM:608594
Cirrhotic Cardiomyopathy	Jaundice, Hepatomegaly, Cirrhosis	ORPHA:57777
Rh Deficiency Syndrome	Hepatosplenomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Intraute...	ORPHA:71275
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Senior-Boichis Syndrome	Hepatosplenomegaly, Cholestasis, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepa...	ORPHA:84081
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Cryptorchidism, Hypogonadism, Diabetes mellitus, Elevated hepatic transaminase	OMIM:614231
Graft Versus Host Disease	Hepatosplenomegaly, Acute hepatitis, Jaundice, Chronic hepatitis, Elevated hepatic transaminase, ...	ORPHA:39812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Jaundice, Cholestasis, Hepatomegaly, Elevated hepatic transaminase, Intrauter...	ORPHA:247598
X-Linked Acrogigantism	Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, Abnormality ...	ORPHA:300373
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Prolonged neonatal jaundice, Splenomegaly	OMIM:300908
Hereditary Cryohydrocytosis With Reduced Stomatin	Hepatosplenomegaly, Postnatal growth retardation, Jaundice, Short stature	ORPHA:168577
Bohring-Opitz Syndrome

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