Details of Disease

General Information of Disease (ID: DISHITDZ)

• Disease Name: Intrahepatic cholestasis
• Definition: A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.
• Disease Hierarchy:
  DISDJJWE: Cholestasis
  DISHITDZ: Intrahepatic cholestasis
• Disease Identifiers:
  MONDO ID: MONDO_0019072
  MESH ID: D002780
  UMLS CUI: C0008372
  MedGen ID: 3042
  HPO ID: HP:0001406
  SNOMED CT ID: 4637005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCB4	TTJUXV6	Limited	Genetic Variation	[1]
EGR1	TTE8LGD	Limited	Biomarker	[2]
MTM1	TTY2TCU	Limited	Genetic Variation	[3]
PDZK1	TTDTBLM	Limited	Altered Expression	[4]
SLC10A2	TTPI1M5	Limited	Biomarker	[5]
ABCB11	TTUXCAF	Strong	Biomarker	[6]
CXCL2	TTZF0K2	Strong	Biomarker	[7]
ENTPD1	TTYM8DJ	Strong	Biomarker	[8]
NR0B2	TT25A9Q	Strong	Biomarker	[9]
NR1H4	TTS4UGC	Strong	Genetic Variation	[10]
SLC22A1	TTM5Q4V	Strong	Biomarker	[11]
SLC22A2	TT0XOJN	Strong	Biomarker	[11]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	DTDSYAQ	Strong	Genetic Variation	[12]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7B1	DE36TMY	Strong	Biomarker	[13]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP1S1	OTQ2H8DN	Limited	Biomarker	[14]
ATP11C	OTKMV2K5	Limited	Genetic Variation	[15]
ATP8B1	OTALGS63	Limited	Genetic Variation	[15]
TMEM30A	OTR6N5J2	Limited	Biomarker	[15]
GGTLC1	OTWJKUHQ	Strong	Biomarker	[16]
GPD2	OTV232Y7	Strong	Biomarker	[17]
MAF	OT1GR3IZ	Strong	Biomarker	[18]
MAFG	OTBQFUZH	Strong	Biomarker	[18]
MYO5B	OTCKL3W3	Strong	Genetic Variation	[19]
TJP2	OTQUY6BV	Strong	Genetic Variation	[20]

References

• [1] Genetic variants in adult liver diseases.Z Gastroenterol. 2015 Dec;53(12):1436-46. doi: 10.1055/s-0035-1566903. Epub 2015 Dec 14.
• [2] Early growth response factor-1 limits biliary fibrosis in a model of xenobiotic-induced cholestasis in mice.Toxicol Sci. 2012 Mar;126(1):267-74. doi: 10.1093/toxsci/kfr311. Epub 2011 Nov 17.
• [3] Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.J Child Neurol. 2012 Jan;27(1):99-104. doi: 10.1177/0883073811414419. Epub 2011 Aug 31.
• [4] Upregulation of PDZK1 by Calculus Bovis Sativus May Play an Important Role in Restoring Biliary Transport Function in Intrahepatic Cholestasis.Evid Based Complement Alternat Med. 2017;2017:1640187. doi: 10.1155/2017/1640187. Epub 2017 Jan 4.
• [5] Intestinal bile acid transport: biology, physiology, and pathophysiology.J Pediatr Gastroenterol Nutr. 2001 Apr;32(4):407-17. doi: 10.1097/00005176-200104000-00002.
• [6] Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.J Hum Genet. 2018 May;63(5):569-577. doi: 10.1038/s10038-018-0431-1. Epub 2018 Mar 5.
• [7] [Role of early growth response factor-1 signal pathway in acute intrahepatic cholestatic hepatic injury in rats].Zhonghua Gan Zang Bing Za Zhi. 2008 Mar;16(3):215-9.
• [8] Lipopolysaccharide alters ecto-ATP-diphosphohydrolase and causes relocation of its reaction product in experimental intrahepatic cholestasis.Cell Tissue Res. 2001 Apr;304(1):103-9. doi: 10.1007/s004410000339.
• [9] [Expressions of SHP and CYP7A1 in pregnant rats with intrahepatic cholestasis].Zhonghua Gan Zang Bing Za Zhi. 2008 Jun;16(6):453-6.
• [10] Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.Gastroenterology. 2007 Aug;133(2):507-16. doi: 10.1053/j.gastro.2007.05.015. Epub 2007 May 23.
• [11] Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis.Pharm Res. 2009 Mar;26(3):549-59. doi: 10.1007/s11095-008-9770-5. Epub 2008 Nov 11.
• [12] Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.World J Gastroenterol. 2013 Jul 28;19(28):4545-51. doi: 10.3748/wjg.v19.i28.4545.
• [13] The Interaction of PPAR and CYP7B1 with ER, Impacted the Occurrence and Development of Intrahepatic Cholestasis in Pregnant Rats.Reprod Sci. 2017 Apr;24(4):627-634. doi: 10.1177/1933719116667223. Epub 2016 Sep 27.
• [14] MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18.
• [15] Hepatic Tmem30a Deficiency Causes Intrahepatic Cholestasis by Impairing Expression and Localization of Bile Salt Transporters.Am J Pathol. 2017 Dec;187(12):2775-2787. doi: 10.1016/j.ajpath.2017.08.011. Epub 2017 Sep 15.
• [16] Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.World J Gastroenterol. 2016 May 28;22(20):4901-7. doi: 10.3748/wjg.v22.i20.4901.
• [17] Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2.
• [18] Induction of avian musculoaponeurotic fibrosarcoma proteins by toxic bile acid inhibits expression of glutathione synthetic enzymes and contributes to cholestatic liver injury in mice. Hepatology. 2010 Apr;51(4):1291-301. doi: 10.1002/hep.23471.
• [19] A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.Hepatology. 2020 Jul;72(1):213-229. doi: 10.1002/hep.31002. Epub 2020 Apr 23.
• [20] TJP2 hepatobiliary disorders: Novel variants and clinical diversity.Hum Mutat. 2020 Feb;41(2):502-511. doi: 10.1002/humu.23947. Epub 2019 Nov 28.