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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Intrauterine growth retardat... OMIM:615710
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic... OMIM:260370
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intrauterine growth retardation, Extrahepatic biliary du... OMIM:601346
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Decreased circulating lipoprotein lipase concentrat... ORPHA:556955
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Exocrine pancreatic insuffici... OMIM:618500
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Severe i... OMIM:609069
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ... ORPHA:3032
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... OMIM:137920
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Intrauteri... OMIM:231100
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, I... ORPHA:99885
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Premature skin wrinkling, Delayed puberty, Prolonged neonatal jaundice, Neonatal hy... ORPHA:631
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab... ORPHA:456312
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Elevated circulating alk... ORPHA:521219
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... OMIM:619868
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre... ORPHA:676
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Intrauterine growth retardation, Absent gallbla... OMIM:600001
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Cryptorchi... ORPHA:261265
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,... ORPHA:2255
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia, Intrauterine growth retardation ORPHA:1296
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature ORPHA:172
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Renal cyst, Bile duct proliferation, Cystic ... OMIM:612284
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Growth delay, Splenomegaly ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla... OMIM:602347
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:232700
Galactosemia Ii
Prolonged neonatal jaundice OMIM:230200
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Cryptorchidism, Abnormal spleen morphology, Ap... ORPHA:2470
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Hepatitis Delta
Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer... ORPHA:402823
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:562639
Edinburgh Malformation Syndrome
Jaundice OMIM:129850
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Cutaneous photosensitivity OMIM:300752
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Abnormalit... ORPHA:93111
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Transient n... ORPHA:99886
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly OMIM:224100
Neonatal Alloimmune Neutropenia
Jaundice, Maternal diabetes ORPHA:464370
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Decreased beta-galactosidase activity OMIM:230350
Hyperbilirubinemia, Rotor Type
Jaundice OMIM:237450
Shwachman-Diamond Syndrome
Elevated circulating hepatic transaminase concentration, Growth delay, Pancreatic hypoplasia, Hyp... ORPHA:811
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly OMIM:206400
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Hepatosple... ORPHA:79333
Jaundice, Familial Obstructive, Of Infancy
Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice OMIM:237900
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Hashimo... ORPHA:436252
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Hydroxykynureninuria
Jaundice OMIM:236800
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Hyperglycemia... OMIM:608600
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Rotor Syndrome
Jaundice, Abnormal circulating enzyme concentration or activity, Intermittent jaundice ORPHA:3111
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Distal Duplication 5Q
Short stature, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... ORPHA:83617
Multiple Endocrine Neoplasia Type 4
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Congenital Rubella Syndrome
Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Jaundice, ... ORPHA:290
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Decreased l... OMIM:617093
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Type II diabetes mel... OMIM:616860
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Cutaneous photosensitivity, Splenomegaly OMIM:121300
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice OMIM:619256
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hyperten... OMIM:267010
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice ORPHA:79235
Craniofacioskeletal Syndrome
Short stature, Intrauterine growth retardation, Absent gallbladder, Cryptorchidism OMIM:300712
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Decreased liver function, Cirrhosis, Cutaneous photosensitivity ORPHA:79278
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Elevated circulating hepatic transaminase concen... ORPHA:369
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Hypothyroidism ORPHA:2349
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Postnatal growth r... OMIM:246200
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abnormal ... ORPHA:79239
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Intrauterine growth retardation, Elevated circulating hepatic transaminas... ORPHA:858
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Alg6-Cdg
Puberty and gonadal disorders, Abnormality of the liver, Abnormal circulating enzyme concentratio... ORPHA:79320
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... OMIM:616483
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... ORPHA:400
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Growth delay, Hepatic cysts OMIM:614377
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Splenome... OMIM:266200
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver ORPHA:205
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... OMIM:147480
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosplenomegaly, Abnormality of the li... ORPHA:231222
Subaortic Stenosis-Short Stature Syndrome
Short stature, Type II diabetes mellitus, Biliary tract abnormality ORPHA:3191
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ... ORPHA:199296
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... ORPHA:1667
Trisomy 10P
Intrauterine growth retardation, Absent gallbladder, Multiple renal cysts, Growth delay ORPHA:171929
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hepatic failure OMIM:177000
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... OMIM:613470
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... OMIM:613370
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice OMIM:614972
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Short stature, Hepatomegaly, Redu... OMIM:261750
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Cir... OMIM:617049
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:601847
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Dermatographic urticaria OMIM:619480
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly OMIM:612714
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Short stature OMIM:615631
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Absent gallbladder, Cryptorchidism ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:618329
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Renal cyst, Bile duct proliferation, Pancreatic fibrosis, Short stature, Jaundi... OMIM:208500
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatome... OMIM:232400
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... ORPHA:71526
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Cho... ORPHA:69665
Meckel Syndrome, Type 2
Renal cyst, Intrauterine growth retardation, Bile duct proliferation OMIM:603194
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly OMIM:603552
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati... OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Ketotic hypoglycemia OMIM:620646
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... ORPHA:2126
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrauterine growth ... OMIM:619048
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death OMIM:617925
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism, Hepatomegaly ORPHA:848
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... ORPHA:99832
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism ORPHA:264450
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice OMIM:179700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly ORPHA:33574
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Erythema, Pituitary adenoma, Increased circulating cortisol... ORPHA:913
Meckel Syndrome, Type 4
Renal cyst, Intrauterine growth retardation, Bile duct proliferation OMIM:611134
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io... ORPHA:95715
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase activity, Jaundice OMIM:235700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Type I diabetes mellitus, Female hypogonadism, Male hypogonadism, Adrenal insuffi... OMIM:240300
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Reduced muscle 6-phosp... OMIM:232800
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Short stature, Jaundice, Thyroid hypoplasia ORPHA:95720
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... ORPHA:95717
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ... ORPHA:284
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Renal cortical cysts, Hepatic steatosis, N... OMIM:231680
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Vipoma
Intrahepatic cholestasis, Erythema, Follicular thyroid carcinoma, Pituitary adenoma, Increased ci... ORPHA:97282
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Growth delay, Micronodular cirrhosis, ... OMIM:256810
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Delayed puberty, Abnormal circulating thyroid hormone concentration, Short s... ORPHA:480880
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Zttk Syndrome
Short stature, Intrauterine growth retardation, Absent gallbladder, Growth delay OMIM:617140
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:108
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Increased circulating renin level, Proportionat... ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... OMIM:616263
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... OMIM:617156
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ... OMIM:614887
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Campomelia, Cumming Type
Polysplenia, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease OMIM:211890
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97283
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hepatomegaly... OMIM:306000
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Goiter, Puberty and gona... ORPHA:525731
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acute pancreatitis, Diab... ORPHA:444490
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-... OMIM:232220
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:100085
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pr... OMIM:617872
Glycogen Storage Disease Xii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Cholecystitis, Splenom... OMIM:611881
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Cholestasis, Hep... ORPHA:731
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adrenal insufficiency, Sple... ORPHA:231226
Tetrasomy 9P
Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Biliary atresia, Multiple re... ORPHA:3310
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Familial Atrial Myxoma
Cholestasis, Jaundice ORPHA:615
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut... ORPHA:905
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
Autoimmune Hepatitis
Spider hemangioma, Elevated circulating hepatic transaminase concentration, Viral hepatitis, Sple... ORPHA:2137
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma ORPHA:60
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97261
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Hypoglycemia, Abnormal circulating androgen level, Increase... ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Intrauterine growth retard... OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Pancreatoblastoma
Pancreatic calcification, Jaundice ORPHA:677
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating hepatic transaminase concentration, Decreased li... OMIM:246900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Congenital Disorder Of Glycosylation, Type Iiaa
Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Biliary cirrhosis, Hepatic failure, ... OMIM:620454
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Elevated hepatic iron concentration, Abnor... ORPHA:48818
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Short s... OMIM:614886
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Growth delay, Bruising susceptibility, Hepat... ORPHA:77259
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice... OMIM:214110
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia ORPHA:2022
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:3166
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation OMIM:601410
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Decreased liver function, Hypoglycemia, Elevated circulating aspartate aminotransfe... OMIM:608779
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Short stature, Jaundice, Growth delay, Decreased methionine synthase activity OMIM:250940
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Eleva... OMIM:261680
Harderoporphyria
Prolonged neonatal jaundice, Hepatomegaly, Cutaneous photosensitivity, Splenomegaly OMIM:618892
Beta-Thalassemia Major
Hepatic fibrosis, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adrenal insufficiency, Sple... ORPHA:231214
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79477
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Cholec... ORPHA:100086
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:214950
Hemolytic Anemia, Congenital, X-Linked
Jaundice OMIM:301015
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatomegaly, Elevat... OMIM:257200
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Prolonged neonatal jaundice,... OMIM:301068
Bangstad Syndrome
Type I diabetes mellitus, Abnormality of the parathyroid gland, Increased circulating cortisol le... ORPHA:1227
Griscelli Syndrome
Hepatitis, Premature graying of hair, Splenomegaly, Hepatomegaly, Jaundice, Short stature ORPHA:381
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Reactive hypoglycemia, Chronic hepatic failure, Hepat... ORPHA:469
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Growth delay, Hypoglycemia, Decreased response to growth hormone sti... ORPHA:226307
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Abnormal intrahepatic bile duct morphology... ORPHA:485405
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Growth delay ORPHA:822
Allan-Herndon-Dudley Syndrome
Prolonged neonatal jaundice, Abnormality of thyroid physiology, Short stature, Cryptorchidism ORPHA:59
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Fanconi Anemia, Complementation Group Q
Short stature, Growth delay, Biliary atresia OMIM:615272
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration OMIM:613839
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Abnormal hepatic glycogen storage, Eleva... ORPHA:2088
Evans Syndrome
Jaundice, Petechiae, Bruising susceptibility ORPHA:1959
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Decreas... OMIM:231530
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... ORPHA:2298
Hereditary Elliptocytosis
Cholelithiasis, Postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundice, Jaundice ORPHA:288
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia OMIM:233600
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst OMIM:614815
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Cholelithiasis OMIM:618775
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh... OMIM:262600
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis OMIM:619273
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Feingold Syndrome
Short stature, Abnormality of the spleen, Annular pancreas ORPHA:1305
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Hepatic cysts, Elevated circulating alkaline phosphatas... OMIM:613095
Aicardi-Goutieres Syndrome 1
Erythema, Elevated circulating hepatic transaminase concentration, Splenomegaly, Petechiae, Hepat... OMIM:225750
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Glucose intolerance, Splenomegaly, Hepatomegaly, ... OMIM:615630
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:613658
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Absent gallbladder, Proportionate short stature ORPHA:500150
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Lipid accumulati... ORPHA:20
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Splenomegaly, Glucose intolerance ORPHA:75563
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Increased circulating... ORPHA:90674
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Increased circulating lactate dehydrogenase concentration, Pancreatitis, Jaun... ORPHA:370348
Congenital Syphilis
Hypoglycemia, Intrauterine growth retardation, Hepatosplenomegaly, Petechiae, Pancreatitis, Prolo... ORPHA:499009
Reynolds Syndrome
Generalized abnormality of skin, Cirrhosis, Telangiectasia of the skin, Hepatomegaly, Jaundice, M... ORPHA:779
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Decreased liver function OMIM:618437
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Bruising susc... ORPHA:540
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased... OMIM:613986
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Ring Chromosome 13 Syndrome
Growth delay, Hypoplasia of the gallbladder, Primary hypothyroidism ORPHA:96176
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ... OMIM:251290
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... ORPHA:186
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Ovarian neoplasm ORPHA:157798
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Prolonged neonatal jaundice, Splenomegaly, Reduced red cell pyruvate kinase level ORPHA:766
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Multiple small medulla... OMIM:216360
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechiae, Prolonged... OMIM:170100
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Immunodeficiency 54
Postnatal growth retardation, Intrauterine growth retardation, Adrenal insufficiency, Splenomegal... OMIM:609981
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Dec... OMIM:616113
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Intrauterine growth retardation, Diabetes insipidus, Short stature ORPHA:423479
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas, Bruising susceptibility, Elevated circulating alkaline phosphatase ... OMIM:618162
Legionnaires Disease
Jaundice, Pancreatitis, Hepatitis, Splenomegaly ORPHA:549
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Primary adrenal insufficien... OMIM:261515
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ... OMIM:619525
Zellweger Syndrome
Hepatic failure, Multicystic kidney dysplasia, Primary adrenal insufficiency, Cryptorchidism, Hep... ORPHA:912
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice OMIM:615512
Seckel Syndrome 10
Severe short stature, Insulin resistance, Elevated circulating luteinizing hormone level, Glycosu... OMIM:617253
Peutz-Jeghers Syndrome
Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Precocious puberty with Sertoli cell tu... OMIM:175200
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Hepatic failure, Cholestasis, Renal cortical microcysts, Intrauterine growth re... OMIM:222470
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Cryptorchidism OMIM:608093
Peroxisome Biogenesis Disorder 6B
Prolonged neonatal jaundice, Delayed menarche, Decreased liver function OMIM:614871
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Decreased testicular size, Cholelithiasis, Cryptorchidism OMIM:300534
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Short stature OMIM:617941
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hypoketotic hypoglycemia, Elevated circulating hepatic transaminase conce... ORPHA:26793
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or ... ORPHA:79237
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:2394
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts, Abnormal pancreatic duct mo... ORPHA:1190
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Maturity-onset diabetes of the young, Biliary atresia, Short... ORPHA:96149
Nabais Sa-De Vries Syndrome, Type 1
Prolonged neonatal jaundice OMIM:618828
Mhc Class Ii Deficiency 1
Cholangitis, Viral hepatitis, Biliary tract abnormality OMIM:209920
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia, Reduced branched-chain alpha-keto acid dehydrogenase activity in cult... OMIM:248600
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Intermit... ORPHA:3202
Bohring-Opitz Syndrome
Short stature, Intrauterine growth retardation, Cholelithiasis, Annular pancreas ORPHA:97297
Anemia, Congenital Dyserythropoietic, Type Ia
Increased circulating lactate dehydrogenase concentration, Mild postnatal growth retardation, Spl... OMIM:224120
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:156
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Pancreatic fibrosis OMIM:615503
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabet... OMIM:557000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... OMIM:607330
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Telan... OMIM:235200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:614866
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Elevated circulating hepatic transaminase concen... ORPHA:264580
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Growth delay, Glycosuri... ORPHA:699
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Prolonged neonatal jaundice OMIM:618868
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Hemobilia, Neoplasm of the gallbladder, Ab... ORPHA:512
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Sho... OMIM:608885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... OMIM:263200
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly OMIM:301066
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced tissue medium-chai... OMIM:201450
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren... ORPHA:95496
Spherocytosis, Type 5
Jaundice, Splenomegaly OMIM:612690
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts, Hepatomegaly, Prematurely a... ORPHA:1318
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Elevated circu... OMIM:616026
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Delayed pube... OMIM:232200
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, G... OMIM:227810
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Porphyria, Congenital Erythropoietic
Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Cutan... OMIM:263700
Propionic Acidemia
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Pancreatitis, Hepatomegaly, Short stature OMIM:606054
Relapsing Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ... ORPHA:91547
Sotos Syndrome
Prolonged neonatal jaundice, Neonatal hypoglycemia, Cryptorchidism, Glucose intolerance OMIM:117550
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Alagille Syndrome
Cholestasis, Intrauterine growth retardation, Cryptorchidism, Reduced number of intrahepatic bile... ORPHA:52
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Premature skin wrinkling, Hyperglycemia,... OMIM:269880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Fasting hyperinsulinemia, Acute hepatic ... ORPHA:71212
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Spherocytosis, Type 4
Jaundice, Splenomegaly OMIM:612653
Cranioectodermal Dysplasia 2
Rhizomelia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concent... OMIM:613610
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena... ORPHA:232
Reynolds Syndrome
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Palmar telangiectasia... OMIM:613471
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatic steato... OMIM:229600
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Elevat... OMIM:618268
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Portal hypertension,... ORPHA:79124
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Splenomegaly ORPHA:90033
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogo... OMIM:209900
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly OMIM:612291
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... OMIM:614921
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neonatal hypoglycemia, Growth delay, Neonatal death OMIM:617248
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Reduced number of intrahepatic bile ducts ORPHA:79284
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:605911
Cirrhotic Cardiomyopathy
Hepatomegaly, Jaundice, Cirrhosis ORPHA:57777
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Jau... OMIM:607625
Niemann-Pick Disease, Type C1
Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cholesterol esteri... OMIM:257220
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Spherocytosis, Type 2
Jaundice, Splenomegaly OMIM:616649
Codas Syndrome
Short stature, Extrahepatic biliary duct atresia ORPHA:1458
Lassa Fever
Jaundice ORPHA:99824
Elliptocytosis 1
Jaundice, Splenomegaly OMIM:611804
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Erythema, Elevated gamma-glutamyltransferase level, Parotitis, Cholestasis, Ele... OMIM:620376
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Hyperechogeni... OMIM:617052
Wilson Disease
Hepatic failure, Portal fibrosis, Glycosuria, Acute hepatic failure, Elevated circulating asparta... OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormality of t... ORPHA:309854
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Rh-Null, Regulator Type
Jaundice OMIM:268150
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated circulating hepatic transaminase concentration, Hypogonadism, Cryptorchidism, Jaundice, ... OMIM:614231
Rh Deficiency Syndrome
Jaundice, Hepatosplenomegaly, Increased circulating lactate dehydrogenase concentration, Intraute... ORPHA:71275
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperglycemia, Hyperinsulinemi... OMIM:248370
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Jaundice, Hepatosplenomegaly, Postnatal growth retardation ORPHA:168577
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... 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
Supernumerary nipple, Intrauterine growth retardation, Mesomelic/rhizomelic limb shortening, Hype... OMIM:605039
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating... ORPHA:39812
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Biliary t... ORPHA:733
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ... ORPHA:77293
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice ORPHA:276
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Hepato... OMIM:603553
Overhydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Splenomegaly, Intermittent jaundice ORPHA:3203
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Sepsis In Premature Infants
Decreased liver function, Splenomegaly, Petechiae, Cyanosis, Hepatomegaly, Jaundice, Purpura ORPHA:90051
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Splenomegaly OMIM:267700
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Intrauterine growth retardation, Diabetes mellitus, Hyperglycemia OMIM:606176
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Hypoglycemia OMIM:251000
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Cryptorchidism, Adrenoco... OMIM:130650
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia OMIM:229700
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Portal hyp... ORPHA:1454
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... OMIM:618160
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:615453
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Intrauterine growth retardation, Hypergonadotropic hypogonadism OMIM:619737
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa... OMIM:619573
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Multiple small medullar... OMIM:118450
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Absence of secondary sex characteristics, Brea... ORPHA:785
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Short stature, Intrauterine growth retardation, Annular pancreas ORPHA:488642
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Intrauterine growth retardation, Growth delay, Hypoglycemia ORPHA:79282
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice OMIM:274150
Autoimmune Polyendocrinopathy Type 3
Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Type I diabetes mellitus, Hepatitis... ORPHA:227982
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Prolonged neonatal jaundice, Adrenal hypoplasia, Hepatomegaly, Intrahepatic bilia... OMIM:214100
Cholestasis, Progressive Familial Intrahepatic, 4
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma OMIM:615878
Neurofibroma