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Gene: Onecut1 MGI:1196423

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Renal cyst... ORPHA:552
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Prolonged neonatal jaundice, Severe short stature, Decreased serum insulin-like gro... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Intrauterine growth... OMIM:260370
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Decreased circulating lipoprotein lipase concentration, Absent gallbladder, I... ORPHA:556955
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc... OMIM:610199
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Diabetes insipidus, Elevated circulating alanine aminotransferase concentration, Pancreatic aplas... OMIM:618500
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Reduced subcut... OMIM:609069
Glycogen Storage Disease Ixc
Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:613027
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Multicystic kidney dyspl... ORPHA:3032
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Pa... OMIM:137920
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Cholangiocarcinoma
Acholic stools, Jaundice, Biliary tract neoplasm ORPHA:70567
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, Prolonged neonatal jaundice, Intra... OMIM:231100
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Glycosuria, Hyperglycemia, Intrauterine gro... ORPHA:99885
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Premature skin wrinkling, Anterior hypopituitarism, Growt... ORPHA:631
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Hereditary Chronic Pancreatitis
Jaundice, Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurr... ORPHA:676
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
17Q12 Microdeletion Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic aplasia, Short stature, Diabe... ORPHA:261265
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m... OMIM:600001
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Pancr... ORPHA:103918
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Biliary atresia, Pancr... ORPHA:2255
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Lambert Syndrome
Intrauterine growth retardation, Intrahepatic biliary atresia, Jaundice, Cholestasis ORPHA:1296
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Short stature, Splenomegaly ORPHA:172
Meckel Syndrome, Type 6
Renal cyst, Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hep... OMIM:612284
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Hyper... OMIM:602782
Galactose Epimerase Deficiency
Growth delay, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Galactosemia Ii
Prolonged neonatal jaundice OMIM:230200
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Intrauterine gr... ORPHA:2470
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Edinburgh Malformation Syndrome
Jaundice OMIM:129850
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Cutaneous photosensitivity OMIM:300752
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... ORPHA:93111
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormality of the spleen ORPHA:1666
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Diabetic ketoacidosis, Hypoinsulinemia, ... ORPHA:99886
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276580
Neonatal Alloimmune Neutropenia
Jaundice, Maternal diabetes ORPHA:464370
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Cholelithiasis OMIM:224100
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... ORPHA:811
Hyperbilirubinemia, Rotor Type
Jaundice OMIM:237450
Galactosemia Iii
Decreased beta-galactosidase activity, Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly OMIM:206400
Cog7-Cdg
Postnatal growth retardation, Jaundice, Excessive wrinkled skin, Elevated circulating hepatic tra... ORPHA:79333
Jaundice, Familial Obstructive, Of Infancy
Jaundice OMIM:308600
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hashimoto thyroiditis, Intrauterine growth retardat... ORPHA:436252
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice OMIM:237900
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen... OMIM:214900
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Polycystic kidney dysplasia, Cholestasis, Bilia... OMIM:208540
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hyperglycemia, Increased subcutaneous truncal adipose tissue, P... OMIM:608600
Hydroxykynureninuria
Jaundice OMIM:236800
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276575
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure OMIM:261650
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Rotor Syndrome
Jaundice, Intermittent jaundice, Abnormal circulating enzyme concentration or activity ORPHA:3111
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Distal Duplication 5Q
Short stature, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperp... ORPHA:83617
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation, Type I diab... ORPHA:290
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Jaundice, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentratio... OMIM:613038
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Eleva... OMIM:617093
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly ORPHA:890
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice OMIM:619256
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Cutaneous photosensitivity, Hepatomegaly OMIM:121300
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, H... OMIM:267010
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p... OMIM:605479
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice ORPHA:79235
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious pub... OMIM:246200
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Intrauterine growth retardation, Short stature OMIM:300712
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:619991
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:369
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Cutaneous photosensitivity, Erythema ORPHA:79278
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ... ORPHA:79303
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Hypothyroidism ORPHA:2349
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure ORPHA:75234
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Cyanosis, Transient Neonatal
Jaundice, Cyanosis, Hepatomegaly OMIM:613977
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Portal hypertension, Biliary tract abnormality, Splenomegaly, ... ORPHA:1414
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Zollinger-Ellison Syndrome
Glucagonoma, Jaundice, Neuroendocrine neoplasm, Erythema, Elevated circulating parathyroid hormon... ORPHA:913
Classic Galactosemia
Delayed puberty, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:79239
Congenital Toxoplasmosis
Intrauterine growth retardation, Jaundice, Elevated circulating hepatic transaminase concentratio... ORPHA:858
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Thyroid Hemiagenesis
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating free T3, Ja... ORPHA:95719
Alg6-Cdg
Jaundice, Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Increa... ORPHA:79320
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Reduced subcutaneous adipose tissue... ORPHA:280356
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:616483
Hyperbilirubinemia, Shunt, Primary
Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem... ORPHA:276556
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple... ORPHA:1333
Nephronophthisis 13
Growth delay, Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Splenomegaly, Int... OMIM:266200
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice ORPHA:205
Subaortic Stenosis-Short Stature Syndrome
Short stature, Biliary tract abnormality, Type II diabetes mellitus ORPHA:3191
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc... OMIM:619902
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Short stature, G... ORPHA:1667
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Reduced subcutaneous adipose tissue, Hyperglycemi... OMIM:604367
Trisomy 10P
Absent gallbladder, Multiple renal cysts, Intrauterine growth retardation, Growth delay ORPHA:171929
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hepatic failure OMIM:177000
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Hyperglycemia, Intrauterine growth r... OMIM:613370
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Decreased glucosephosphate isomerase level, Splenomegaly, Pigment galls... OMIM:613470
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Growth delay, Short stature, Splenomegaly, Hypo... OMIM:261750
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Abnormal liver function tests during pregnancy OMIM:614972
Gallbladder Disease 4
Cholelithiasis OMIM:611465
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Elevated circul... OMIM:617049
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Dermatographic urticaria OMIM:619480
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Short stature, Hypothyroidism, Type I diabetes mell... ORPHA:1227
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly OMIM:612714
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Growth delay, Short stature, Splenomegaly OMIM:615631
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Short stature ORPHA:163979
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Renal cyst, Polycystic liver disease, Bile duct proliferation, Short stature, Hepatic f... OMIM:208500
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Meckel Syndrome, Type 2
Intrauterine growth retardation, Renal cyst, Bile duct proliferation OMIM:603194
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Cholelithiasis OMIM:620646
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Splenomegaly, Hepatomegaly OMIM:603552
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho... OMIM:618641
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619048
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema... ORPHA:171
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Primary hyperparathyroi... ORPHA:97279
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Growth... ORPHA:99832
Beta-Thalassemia
Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis, Hypogonadotropic hypogonadism ORPHA:848
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death OMIM:617925
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Neoplasm o... ORPHA:2126
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Prolonged neonata... ORPHA:95715
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly OMIM:179700
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly ORPHA:33574
Meckel Syndrome, Type 4
Intrauterine growth retardation, Renal cyst, Bile duct proliferation OMIM:611134
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Female hypogonadism, Hypo... OMIM:240300
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Reduced erythrocyte hexokinase activity, Cholecystitis OMIM:235700
Thyroid Hypoplasia
Jaundice, Thyroid hypoplasia, Growth delay, Short stature, Hypothyroidism ORPHA:95720
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Decr... ORPHA:95717
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Elevated circulating aldolase concentration, Reduced muscle 6-phosphofr... OMIM:232800
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... ORPHA:95716
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Alveolar Echinococcosis
Decreased liver function, Abnormal adrenal morphology, Jaundice, Liver abscess, Cholangitis, Abno... ORPHA:284
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97282
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Cyst of the ductus choledochus, Hypoplastic nipples, Abnormal circulating thyroi... ORPHA:480880
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... ORPHA:171876
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Zttk Syndrome
Absent gallbladder, Intrauterine growth retardation, Short stature, Growth delay OMIM:617140
Babesiosis
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure ORPHA:108
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Hepatomegaly, Short stature, Hypothyroidism, Diabe... OMIM:616263
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619386
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circulating alanine aminotransferase c... OMIM:614887
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Petechiae, Splen... ORPHA:294
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Polycystic kidney dysplasia, Hepatic periportal nec... OMIM:231680
Somatostatinoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Increa... ORPHA:97283
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... ORPHA:263455
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Growth delay, Splenomegaly... OMIM:306000
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polycystic liver disease, Short stature, Pancreatic cysts, Polysplenia OMIM:211890
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Elevated circula... ORPHA:525731
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia OMIM:620357
Familial Chylomicronemia Syndrome
Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Diabetes mellitus, Hepa... ORPHA:444490
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... ORPHA:226313
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Glycogen Storage Disease Ib
Delayed puberty, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Hepa... OMIM:606069
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatocellular carcinoma, Growth delay,... ORPHA:231226
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona... OMIM:619481
Glycogen Storage Disease Xii
Delayed puberty, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldolase... OMIM:611881
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis, Portal hype... ORPHA:731
Tetrasomy 9P
Jaundice, Biliary atresia, Multiple renal cysts, Absent gallbladder, Cryptorchidism, Intrauterine... ORPHA:3310
Peroxisome Biogenesis Disorder 7A (Zellweger)
Jaundice, Hepatomegaly OMIM:614872
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Familial Atrial Myxoma
Jaundice, Cholestasis ORPHA:615
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency ORPHA:35
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortis... ORPHA:90790
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Grfoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure ORPHA:60
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrauterine growth retard... OMIM:618958
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:246900
Pancreatoblastoma
Jaundice, Pancreatic calcification ORPHA:677
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... ORPHA:131
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hypoglycemia, Elevated circulating aspartate aminot... OMIM:620454
Aceruloplasminemia
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology, Abnormal ci... ORPHA:48818
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, Accessory spleen, Micr... OMIM:619418
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... ORPHA:64744
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Short stature, Growth de... OMIM:614886
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Gaucher Disease Type 1
Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infa... ORPHA:77259
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ... OMIM:214110
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Cirrhosis, Familial
Cirrhosis, Jaundice, Fulminant hepatitis, Biliary cirrhosis, Micronodular cirrhosis OMIM:215600
Estrogen Resistance
Delayed puberty, Elevated alkaline phosphatase of bone origin, Hyperinsulinemia, Increased circul... OMIM:615363
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hepatomegaly, Jaundice, Excessive wrinkled skin, Elevated circulating a... OMIM:608779
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Klatskin Tumor
Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatomegaly ORPHA:99978
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methionine synthase activity, Jaundice, Short stature, Growth delay OMIM:250940
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Short stature, Type ... ORPHA:3085
Harderoporphyria
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Cutaneous photosensitivity OMIM:618892
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma,... ORPHA:231214
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Petechiae, Splenomegaly ORPHA:79477
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... ORPHA:100086
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Prolonged neo... ORPHA:226316
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Hemolytic Anemia, Congenital, X-Linked
Jaundice OMIM:301015
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Insulin resistanc... ORPHA:363400
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Short stature, Prolong... OMIM:257200
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Postprandial... ORPHA:2298
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hereditary Fructose Intolerance
Jaundice, Hepatomegaly, Reduced circulating aldolase concentration, Chronic hepatic failure, Grow... ORPHA:469
Glucagonoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97280
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po... ORPHA:79319
Griscelli Syndrome
Premature graying of hair, Jaundice, Hepatomegaly, Short stature, Splenomegaly, Hepatitis ORPHA:381
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Allan-Herndon-Dudley Syndrome
Short stature, Prolonged neonatal jaundice, Abnormality of thyroid physiology, Cryptorchidism ORPHA:59
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Decreased thyroid-stim... ORPHA:226307
16P12.1P12.3 Triplication Syndrome
Abnormal intrahepatic bile duct morphology, Decreased response to growth hormone stimulation test... ORPHA:485405
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Severe postnatal growth retardation, Cholestasis, Portal hypertension,... ORPHA:440713
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Cholelithiasis, Growth delay, Splenomegaly ORPHA:822
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Fanconi Anemia, Complementation Group Q
Growth delay, Biliary atresia, Short stature OMIM:615272
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonad... ORPHA:79237
Evans Syndrome
Petechiae, Bruising susceptibility, Jaundice ORPHA:1959
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased circulating lactate dehydrogenase concentration, Jaundice, Hepatomegaly OMIM:613839
Hereditary Elliptocytosis
Postnatal growth retardation, Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly ORPHA:288
Immunodeficiency 59 And Hypoglycemia
Short stature, Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly OMIM:233600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Short statur... ORPHA:254516
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst OMIM:614815
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Cholelithiasis OMIM:618775
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism, Cholelithiasis OMIM:619273
Feingold Syndrome
Short stature, Annular pancreas, Abnormality of the spleen ORPHA:1305
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Short stature, Splenomegaly, Hepatic fibro... OMIM:615630
Aicardi-Goutieres Syndrome 1
Purpura, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diabetes insipidu... OMIM:225750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Cho... OMIM:613658
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Jaundice, Short stature, Growth d... ORPHA:95712
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... ORPHA:20
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Polycystic kidne... OMIM:613095
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Intrauterine growth retardation, Proportionate short stature ORPHA:500150
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Portal hypertension, ... ORPHA:465508
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Insulin-resistant diabetes mellitu... ORPHA:79086
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Congenital Syphilis
Purpura, Pancreatitis, Petechiae, Prolonged neonatal jaundice, Hepatosplenomegaly, Intrauterine g... ORPHA:499009
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Pancreatitis, Neoplasm of the pancreas, Ovarian neoplasm, Increased circulating lactate... ORPHA:370348
Reynolds Syndrome
Generalized abnormality of skin, Cirrhosis, Jaundice, Hepatomegaly, Telangiectasia of the skin, M... ORPHA:779
Alpha-Thalassemia
Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Developmental And Epileptic Encephalopathy 75
Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Reduced subcutaneous adipose tissue, Hypergly... OMIM:151660
Ring Chromosome 13 Syndrome
Growth delay, Hypoplasia of the gallbladder, Primary hypothyroidism ORPHA:96176
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Purpura, Jaundice, Elevated circulating hepa... ORPHA:540
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepat... ORPHA:186
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:251290
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Serrated Polyposis Syndrome
Biliary tract neoplasm, Ovarian neoplasm, Pancreatic adenocarcinoma ORPHA:157798
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular s... OMIM:616113
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Prolonged neonatal jaundice, Reduced red cell pyruvate kinase level, Splenomegaly ORPHA:766
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... OMIM:216360
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Adrenocorticotropic hormone excess, Short stature, Sp... OMIM:609981
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,... OMIM:231530
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:5
Prolidase Deficiency
Hepatomegaly, Diffuse telangiectasia, Petechiae, Prolonged neonatal jaundice, Splenomegaly, Eleva... OMIM:170100
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Rhizomelia, Decreased serum insulin-like growth factor 1, Bruising susceptibili... OMIM:618162
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly OMIM:603903
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Splenomegaly ORPHA:66518
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B... OMIM:261515
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Prolonged neonatal jaundice, Short stature, Diabetes insipidus ORPHA:423479
Legionnaires Disease
Jaundice, Pancreatitis, Splenomegaly, Hepatitis ORPHA:549
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Short stature, Precocious puberty, Hyperglycemia, Diabeti... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Seckel Syndrome 10
Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanine aminotransferase con... OMIM:617253
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alkal... OMIM:619525
Zellweger Syndrome
Hepatomegaly, Jaundice, Short stature, Primary adrenal insufficiency, Cryptorchidism, Multicystic... ORPHA:912
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis OMIM:615512
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Hyperinsulinemia, Precocious puberty in females, Insulin resistance, Pol... ORPHA:528
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, ... OMIM:175200
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Short stature, Renal cortical microcysts, Splenom... OMIM:222470
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Cryptorchidism OMIM:608093
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Short stature, Dorsocervical fat pad, Hyperinsulinemic hypogl... OMIM:616033
Peroxisome Biogenesis Disorder 6B
Decreased liver function, Prolonged neonatal jaundice, Delayed menarche OMIM:614871
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis, Short stature OMIM:300534
Shwachman-Diamond Syndrome 2
Short stature, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:617941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... ORPHA:71212
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hepa... ORPHA:26793
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic failure ORPHA:2394
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Multiple ren... ORPHA:1190
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Biliary atresia, Polycystic kidney dyspla... ORPHA:96149
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Pancreatitis, Reduced branched-chain alpha-keto acid dehydrogenase activity in cult... OMIM:248600
Nabais Sa-De Vries Syndrome, Type 1
Prolonged neonatal jaundice OMIM:618828
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Viral hepatitis OMIM:209920
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic failure ORPHA:156
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Portal vein thrombosis, Increased circulating lactate dehy... ORPHA:3202
Bohring-Opitz Syndrome
Intrauterine growth retardation, Annular pancreas, Cholelithiasis, Short stature ORPHA:97297
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Increased circulating lactate ... OMIM:224120
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex... OMIM:557000
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Pancreatic fibrosis OMIM:615503
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Renal cyst, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatic fai... OMIM:602579
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Pearson Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hepatomegaly... ORPHA:699
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concent... OMIM:607330
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplastic... OMIM:614866
Estrogen Resistance Syndrome
Breast hypoplasia, Elevated tissue non-specific alkaline phosphatase, Hyperinsulinemia, Absence o... ORPHA:785
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Prolonged neonatal jaundice OMIM:618868
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal circulating enzyme concentration or activity, Ab... ORPHA:512
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Hepatomegaly OMIM:185000
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Hepa... OMIM:619377
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Hepatosplenomegaly, Hypoglycemia, Cholecystitis OMIM:301066
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-chai... OMIM:201450
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Short stature, Growth delay, Splenomegaly, Elevated gamma-glutamyltransfe... OMIM:608885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Polycystic kidney dysplasia, Portal hypertension, Renal cyst, ... OMIM:263200
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Glycosuria,... OMIM:616026
Spherocytosis, Type 5
Jaundice, Splenomegaly OMIM:612690
Glycogen Storage Disease Ia
Delayed puberty, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232200
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Splenomegaly, Hepatomegaly OMIM:616689
Fanconi-Bickel Syndrome
Postnatal growth retardation, Hepatomegaly, Intrahepatic cholestasis, Elevated circulating alkali... OMIM:227810
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Prematurely aged appearance, Multiple renal cysts, Pa... ORPHA:1318
Propionic Acidemia
Hepatomegaly, Pancreatitis, Propionyl-CoA carboxylase deficiency, Short stature, Hypoglycemia OMIM:606054
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia OMIM:200995
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Cutaneous photosensitivity, Short stature, Splenomegaly, ... OMIM:263700
Relapsing Fever
Increased circulating lactate dehydrogenase concentration, Jaundice, Elevated circulating hepatic... ORPHA:91547
Sotos Syndrome
Prolonged neonatal jaundice, Neonatal hypoglycemia, Cryptorchidism, Glucose intolerance OMIM:117550
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Jaundice OMIM:615751
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Alagille Syndrome
Delayed puberty, Hepatomegaly, Cholestasis, Telangiectasia of the skin, Intrauterine growth retar... ORPHA:52
Short Syndrome
Premature skin wrinkling, Glucose intolerance, Reduced subcutaneous adipose tissue, Ovarian cyst,... OMIM:269880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic tra... ORPHA:79240
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Spherocytosis, Type 4
Jaundice, Splenomegaly OMIM:612653
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Increased circulating lactate dehydrogenase concent... ORPHA:232
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Reduc... OMIM:229600
Reynolds Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lip telangiectas... OMIM:613471
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Hypothyroidism, Exoc... OMIM:618268
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chronic hepatic ... ORPHA:79124
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Short stature, Gly... ORPHA:2089
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Biliary trac... OMIM:209900
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated... OMIM:614921
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Splenomegaly ORPHA:90033
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly OMIM:612291
Rabson-Mendenhall Syndrome
Premature graying of hair, Diabetic ketoacidosis, Increased circulating androgen concentration, F... ORPHA:769
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Neonatal hypoglycemia, Jaundice, Neonatal death OMIM:617248
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Reduced number of intrahepatic bile ducts, Growth delay ORPHA:79284
Cirrhotic Cardiomyopathy
Cirrhosis, Jaundice, Hepatomegaly ORPHA:57777
Niemann-Pick Disease, Type C2
Jaundice, Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Splenom... OMIM:607625
Niemann-Pick Disease, Type C1
Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Splenomegaly, Fat... OMIM:257220
Spherocytosis, Type 2
Jaundice, Splenomegaly OMIM:616649
Lassa Fever
Jaundice ORPHA:99824
Codas Syndrome
Short stature, Extrahepatic biliary duct atresia ORPHA:1458
Elliptocytosis 1
Jaundice, Splenomegaly OMIM:611804
Autoinflammatory Disease, Systemic, With Vasculitis
Purpura, Jaundice, Hepatomegaly, Congenital hydrocele, Parotitis, Cholestasis, Elevated circulati... OMIM:620376
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Growth ... OMIM:248370
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma,... OMIM:277900
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Short stature, Exocrine pancreatic insufficiency, Intrauterine growth re... OMIM:617052
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hypogonadism, ... OMIM:614231
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Portal hypertens... ORPHA:309854
Rh-Null, Regulator Type
Jaundice OMIM:268150
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperinsulinemia ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemi... OMIM:608594
Rh Deficiency Syndrome
Increased circulating lactate dehydrogenase concentration, Jaundice, Hepatosplenomegaly, Intraute... ORPHA:71275
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Portal hypertens... ORPHA:84081
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Postnatal growth retardation, Jaundice, Hepatosplenomegaly ORPHA:168577
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Short stature... ORPHA:77293
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Elevated circula... ORPHA:247598
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Splenomegaly OMIM:300908
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly OMIM:246400
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Mesomelic/rhizomelic limb shortening, Short stature, Intrauterine growth... OMIM:605039
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Acute hepatitis, Chronic hepat... ORPHA:39812
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated circulating h... OMIM:212138
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepatosplenomega... OMIM:603553
Overhydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Intermittent jaundice, Splenomegaly ORPHA:3203
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Cyanosis ORPHA:90051
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Splenomegaly, Hepatomegaly OMIM:267700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... OMIM:124000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:251000
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Hepatoblastoma... OMIM:130650
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... OMIM:203800
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemi... OMIM:131100
Fructose-1,6-Bisphosphatase Deficiency
Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia, Hepatomegaly OMIM:229700
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... ORPHA:1454
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Growth delay, Acute hepatic failure, Hyp... OMIM:615453
Combined Oxidative Phosphorylation Deficiency 54
Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased response to growth hormone... OMIM:618160
Alagille Syndrome 1
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Cho... OMIM:118450
Immunodeficiency 87 And Autoimmunity
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:619573
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:275761
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Biliary cirrhosis, Anterior pituita... ORPHA:227982
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Short stature, Elevated circulating growth hormone concentration, D... OMIM:608747
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemi... OMIM:269700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Hypoglycemia, Jaundice, Growth delay ORPHA:79282
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Intrauterine growth retardation, Annular pancreas, Short stature ORPHA:488642
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased urinary cor... ORPHA:189427
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice OMIM:274150
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Adrenal hypoplasia, Prolonged neonatal jaundice, R... OMIM:214100
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Biliary cirrhosis, Anterior pituita... ORPHA:227990
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure OMIM:615878
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Adrenal hypoplasia, Asplenia, Bile duct proliferat... OMIM:249000
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblast... OMIM:210200
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Multiple renal cysts, Epididymal ... OMIM:193300
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis, Renal corticomedullary cysts OMIM:613159
Necrotizing Enterocolitis
Cyanosis, Hyperglycemia, Abnormal glucose homeostasis, Peritonitis ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Neonatal death, Intrauterine grow... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Neonatal death, Intrauterine grow... OMIM:618839
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Adrenocortical carcinoma, Pseu... ORPHA:116
Elliptocytosis 3
Intermittent jaundice OMIM:617948
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Glucocorticoid Deficiency 2
Abnormal circulating renin, Bilateral cryptorchidism, Decreased circulating cortisol level, Recur... OMIM:607398
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Menkes Disease
Intrauterine growth retardation, Prolonged neonatal jaundice, Spontaneous hematomas, Hypoglycemia ORPHA:565
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Annular pancreas, Cutaneous photosensitivity, Short stature, Hypogonad... OMIM:268400
Chediak-Higashi Syndrome
Bruising susceptibility, Jaundice, Splenomegaly, Hepatomegaly OMIM:214500
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Decreased response to growth hormone stimulation test, Hyperinsu... ORPHA:273
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H... ORPHA:90062
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Diabetes insipidus, Intrahepatic bile duct dilatation, Anterio... OMIM:619534
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice ORPHA:529799
Argininemia
Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activit... OMIM:207800
Yellow Fever
Jaundice, Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevat... ORPHA:99829
Cat Eye Syndrome
Short stature, Biliary atresia OMIM:115470
Microsporidiosis
Adrenocortical abnormality, Pancreatitis, Cholangitis, Thyroiditis, Biliary tract abnormality, Ab... ORPHA:2552
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:276700
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Renal cyst, Polycystic liver disease, Hepatic cysts, Pancr... ORPHA:730
Leprechaunism
Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Fasting hypoglycemia, Severe intrau... ORPHA:508
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Splenome... OMIM:613327
Jacobsen Syndrome
Intrauterine growth retardation, Annular pancreas, Cryptorchidism OMIM:147791
Glutaric Acidemia I
Reduced peroxisomal glutaryl-CoA oxidase activity, Hepatomegaly, Hypoglycemia OMIM:231670
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Petechiae, Orchi... ORPHA:99826
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cholelithiasis, Growth delay, Hepatosplenomegaly, Abnormality of the spleen, Spl... ORPHA:2072
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Elevated circulating alkaline phosphatase concentration, Hyperparat... OMIM:620366
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating enzyme concentration or activity, Prematurely aged appearanc... ORPHA:909
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Short stature, Prolonged neonatal jaundi... ORPHA:51
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Growth delay, Hyperglycemia, Insulin-resi... OMIM:608612
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hypergonadotropic hypogonadism, Short stature, Bruising susceptibility, Cryptor... OMIM:227646
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... ORPHA:199299
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Premature graying of hair, Pulmonary carcinoid tumor,... ORPHA:363618
Ogden Syndrome
Postnatal growth retardation, Jaundice, Macrovesicular hepatic steatosis, Maternal diabetes, Prem... OMIM:300855
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Isolated Complex I Deficiency
Intrauterine growth retardation, Hypoglycemia, Hepatomegaly, Diabetes mellitus ORPHA:2609
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Cystic... ORPHA:564
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Gaucher Disease
Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Splenic infarction, Short stature, Sple... ORPHA:355
Rift Valley Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatitis ORPHA:319251
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Hepatosplenomegaly, Exocrine pancreatic... OMIM:219700
Crimean-Congo Hemorrhagic Fever
Spontaneous hematomas, Purpura, Jaundice, Hepatomegaly, Parotitis, Acute pancreatitis, Inappropri... ORPHA:99827
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Glycogen Storage Disease Ic
Delayed puberty, Hepatomegaly, Chronic pancreatitis, Spider hemangioma, Hepatocellular carcinoma,... OMIM:232240
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Kaposiform Lymphangiomatosis
Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Ecchymosis, B... ORPHA:464329
Anemia, Congenital Dyserythropoietic, Type Iiia
Increased circulating lactate dehydrogenase concentration, Jaundice OMIM:105600
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Short stature, Hypothyroidism, Parathyroid hypoplasia, ... OMIM:188400
Glycerol Kinase Deficiency
Chronic pancreatitis, Short stature, Growth delay, Reduced glycerol kinase activity in cultured f... OMIM:307030
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Renal cyst, Short stature, Intrauterine growth retardation, Cryptorchidism OMIM:616975
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Cirrhosis, Hepatic arteriovenous malformation, Reti... ORPHA:774
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Short stature,... OMIM:620186
Castleman Disease
Jaundice ORPHA:160
22Q11.2 Deletion Syndrome
Purpura, Hypoparathyroidism, Cholelithiasis, Polycystic kidney dysplasia, Hypoplasia of the thymu... ORPHA:567
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Cuta... ORPHA:167
Listeriosis
Jaundice, Liver abscess, Splenic abscess, Peritonitis, Hepatic granulomatosis, Cholecystitis ORPHA:533
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ... ORPHA:892
Mandibuloacral Dysplasia
Postnatal growth retardation, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, In... ORPHA:2457
Intellectual Developmental Disorder, X-Linked 112
Renal cyst, Short stature, Cryptorchidism, Pancreatic cysts, Mild short stature OMIM:301111
Jacobsen Syndrome
Annular pancreas, Short stature, Growth delay, Intrauterine growth retardation, Cryptorchidism, M... ORPHA:2308
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Incre... ORPHA:79259
Pyruvate Carboxylase Deficiency
Growth delay, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus ORPHA:791
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Atypical Werner Syndrome
Premature graying of hair, Delayed puberty, Hypogonadism, Fasting hyperinsulinemia, Hepatic steat... ORPHA:79474
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:99228
Monosomy X
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:99226
Scorpion Envenomation
Purpura, Acute pancreatitis, Increased circulating lactate dehydrogenase concentration, Glycosuri... ORPHA:466677
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Cutaneo... OMIM:176270
Niemann-Pick Disease Type C
Hepatomegaly, Jaundice, Low cholesterol esterification rate, Hepatosplenomegaly, Splenomegaly, Ab... ORPHA:646
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia, Cryptorchidism OMIM:267000
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Precocious puberty, Intrauterine growth retardation, ... ORPHA:96191
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Occipital Horn Syndrome
Bruising susceptibility, Jaundice, Cholestasis, Hepatitis ORPHA:198
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
1P36 Deletion Syndrome
Annular pancreas, Renal cyst, Short stature, Hypothyroidism, Abnormality of the spleen, Hypogonad... ORPHA:1606
Fryns Syndrome
Stillbirth, Renal cyst, Ectopic pancreatic tissue, Cryptorchidism, Polysplenia OMIM:229850
Kawasaki Disease
Palmoplantar erythema, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Cyanosis, Abdominal situs inversus OMIM:306955
Paroxysmal Nocturnal Hemoglobinuria
Increased circulating lactate dehydrogenase concentration, Glycosuria, Jaundice, Abnormal erythro... ORPHA:447
Wolf-Hirschhorn Syndrome
Accessory spleen, Severe postnatal growth retardation, Short stature, Biliary tract abnormality, ... OMIM:194190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Intrauterine ... OMIM:619475
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Short stature, Ovarian cyst, Hepatic cysts, Hepatic fibrosis, Pancre... OMIM:311200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Rhizomelia, Cholangitis, Cholestasis, Renal cyst, Short stature, Congenital hepatic... OMIM:266920
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hypoglycemia, Cyanosis, Hyperglycemia OMIM:620423
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Severe postnatal growth retardation, Polycystic kidne... OMIM:210710
Alkaptonuria
Black pigment gallstones, Hypothyroidism ORPHA:56
African Trypanosomiasis
Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Abnormality of the endocrine sys... ORPHA:3385
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Leptospirosis
Jaundice, Hepatitis, Elevated serum transaminases during infections, Hepatomegaly ORPHA:509
Cole Disease
Hyperglycemia OMIM:615522
Williams Syndrome
Cholelithiasis, Prematurely aged appearance, Short stature, Hypothyroidism, Precocious puberty, M... ORPHA:904
Peters-Plus Syndrome
Bilobate gallbladder, Postnatal growth retardation, Rhizomelia, Disproportionate short-limb short... OMIM:261540
Schinzel-Giedion Syndrome
Annular pancreas, Renal cyst, Central hypothyroidism, Hepatoblastoma, Streak ovary ORPHA:798
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Neonatal death, Asplenia OMIM:265380
Bardet-Biedl Syndrome
Elevated circulating hepatic transaminase concentration, Impaired fasting glucose, Abnormality of... ORPHA:110
Orofaciodigital Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Multicystic kidney dysplasia, Exocrine p... ORPHA:2750
Ctcf-Related Neurodevelopmental Disorder
Prolonged neonatal jaundice, Cryptorchidism ORPHA:363611
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Stillbirth, Accessory spleen, Polycystic kidney dysplasia, Severe i... OMIM:268300
Primary Sjögren Syndrome
Purpura, Chronic active hepatitis, Thyroiditis, Parotitis, Biliary cirrhosis, Chronic hepatitis, ... ORPHA:289390
Dend Syndrome
Hyperglycemia ORPHA:79134
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Hyperglycemia ORPHA:444077
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Sotos Syndrome
Neonatal hypoglycemia, Hypothyroidism, Prolonged neonatal jaundice, Flushing, Cryptorchidism, Hyd... ORPHA:821
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Leukocyte Adhesion Deficiency
Growth delay, Short stature, Peritonitis, Intrauterine growth retardation, Hyperinsulinemic hypog... ORPHA:2968
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir... ORPHA:79318

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 Onecut1

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 Onecut1.

No publications found that use IMPC mice or data for Onecut1.

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
Onecut1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Onecut1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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