Details of Disease

General Information of Disease (ID: DIS3MHVP)

Disease Name Hypercholanemia, familial
Synonyms familial hypercholanemia; hypercholanemia, familial
Disease Hierarchy
DISUXA08: Inborn disorder of bile acid synthesis
DIS3MHVP: Hypercholanemia, familial
Disease Identifiers
MONDO ID
MONDO_0100327
MESH ID
C564336
UMLS CUI
C1843139
MedGen ID
334689
SNOMED CT ID
723360007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
BAAT DERA3OF Limited Biomarker [1]
EPHX1 DELB4KP Limited GermlineCausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TJP2 OTQUY6BV Limited Biomarker [3]
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References

1 Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.Gastroenterology. 2013 May;144(5):945-955.e6; quiz e14-5. doi: 10.1053/j.gastro.2013.02.004. Epub 2013 Feb 13.
2 Transcription of the Human Microsomal Epoxide Hydrolase Gene (EPHX1) Is Regulated by PARP-1 and Histone H1.2. Association with Sodium-Dependent Bile Acid Transport.PLoS One. 2015 May 20;10(5):e0125318. doi: 10.1371/journal.pone.0125318. eCollection 2015.
3 Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.PLoS One. 2014 Apr 21;9(4):e95646. doi: 10.1371/journal.pone.0095646. eCollection 2014.