Details of Disease

General Information of Disease (ID: DIS7GZNB)

Disease Name Sclerosing cholangitis
Synonyms sclerosing cholangitis (disease); fibrosing cholangitis; primary sclerosing cholangitis (PSC); Primary sclerosing cholangitis; sclerosing cholangitis
Definition
A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.
Disease Hierarchy
DIS9U3YN: Cholangitis
DIS7GZNB: Sclerosing cholangitis
Disease Identifiers
MONDO ID
MONDO_0018646
MESH ID
D015209
UMLS CUI
C0008313
MedGen ID
3036
HPO ID
HP:0030991
Orphanet ID
447771
SNOMED CT ID
235917005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 39 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ANTXR2 TTOD34I Limited Genetic Variation [1]
CD40 TT1ERKL Limited Genetic Variation [1]
CD6 TTMF6KC Limited Genetic Variation [1]
DNMT3A TTJUALD Limited Genetic Variation [1]
ERAP1 TT60XFL Limited Genetic Variation [1]
ERAP2 TTVGS1C Limited Genetic Variation [1]
ERN1 TTKIAT3 Limited Genetic Variation [1]
ETS1 TTTGPSD Limited Genetic Variation [1]
GPR35 TT254XD Limited Genetic Variation [1]
HDAC7 TTMUEK1 Limited Genetic Variation [1]
IFNGR2 TT13TL0 Limited Genetic Variation [1]
IL19 TT87RWS Limited Genetic Variation [1]
IL1R1 TTWOTEA Limited Genetic Variation [1]
IL23R TT6H4QR Limited Genetic Variation [1]
IL2RA TT10Y9E Limited Genetic Variation [1]
ITGAL TT48WR6 Limited Genetic Variation [1]
KEAP1 TT3Z6Y9 Limited Genetic Variation [1]
KSR1 TTHL1TV Limited Genetic Variation [1]
LRRK2 TTK0FEA Limited Genetic Variation [1]
NFKB1 TTUIZKC Limited Genetic Variation [1]
NOD2 TTYPUHA Limited Genetic Variation [1]
NPEPPS TT371QC Limited Genetic Variation [1]
NR5A2 TTAU3SY Limited Genetic Variation [1]
OSMR TTAH0KM Limited Genetic Variation [1]
PRKCB TTYPXQF Limited Genetic Variation [1]
PRKCQ TT1MS7X Limited Genetic Variation [1]
PTPN2 TTY8PUS Limited Genetic Variation [1]
RIC8B TT26BHC Limited Genetic Variation [1]
RPS6KB1 TTG0U4H Limited Genetic Variation [1]
TNFAIP3 TT5W0IO Limited Genetic Variation [1]
TNFRSF14 TTWGTC1 Limited Genetic Variation [1]
TNFRSF1A TTG043C Limited Genetic Variation [1]
TYK2 TTBYWP2 Limited Genetic Variation [1]
ABCB4 TTJUXV6 Strong Genetic Variation [2]
FOXP1 TT0MUCI Strong Genetic Variation [3]
HIF1A TTSN6QU Strong Biomarker [4]
NOS2 TTF10I9 Strong Genetic Variation [1]
SH2B3 TT36N7Z Strong Genetic Variation [3]
SIK2 TTCUGZR Strong Genetic Variation [3]
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⏷ Show the Full List of 39 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A11 DTEOAND Limited Genetic Variation [1]
SLC9A8 DTNY0C2 Limited Genetic Variation [1]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PARK7 DEPOVCH Limited Genetic Variation [1]
MANBA DEMH6UB Strong Genetic Variation [3]
MMEL1 DEYCUQ2 Strong Genetic Variation [3]
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This Disease Is Related to 75 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTA2 OTEDLG8E Limited Genetic Variation [1]
ADCY3 OTGOQM6B Limited Genetic Variation [1]
ANKRD55 OT62KZII Limited Genetic Variation [1]
ASAP2 OTGEXULW Limited Genetic Variation [1]
ATG16L1 OTEOYC5D Limited Genetic Variation [1]
ATG5 OT4T5SMS Limited Genetic Variation [1]
BACH2 OT17GS18 Limited Genetic Variation [1]
BANK1 OTXAAA11 Limited Genetic Variation [1]
BCL2L11 OTNQQWFJ Limited Biomarker [5]
BSN OTZ72VIB Limited Genetic Variation [1]
C17orf67 OTCL5EE8 Limited Genetic Variation [1]
C1orf141 OTASPHL0 Limited Genetic Variation [1]
CARD9 OTJ81AWD Limited Genetic Variation [1]
CCBE1 OTO4UIDB Limited Genetic Variation [6]
CDKAL1 OTA0SGNE Limited Genetic Variation [1]
CMC1 OTCWYKPI Limited Genetic Variation [1]
CPEB4 OTW1SCZW Limited Genetic Variation [1]
CREM OTJIJ5AL Limited Genetic Variation [1]
DAP OT5YLL7E Limited Genetic Variation [1]
DENND1B OT3VCNPE Limited Genetic Variation [1]
FAM118A OT6EM97E Limited Genetic Variation [1]
FAM177A1 OTXTA14N Limited Genetic Variation [1]
FIBP OTI7131S Limited Genetic Variation [1]
FNDC3A OTUX3S2I Limited Genetic Variation [1]
FUT2 OTLXM6WI Limited Genetic Variation [1]
GAL3ST2 OTZT1PLE Limited Genetic Variation [1]
GCKR OTSIWXGG Limited Genetic Variation [1]
GLYAT OT3WWYXD Limited Genetic Variation [1]
GNA12 OT3IRZH3 Limited Genetic Variation [1]
HIPK1 OTSEA8RS Limited Genetic Variation [1]
IFIH1 OTZA2AHA Limited Genetic Variation [1]
IL18R1 OT83XMPQ Limited Genetic Variation [1]
IL27 OTIS3OF8 Limited Genetic Variation [1]
IL6R OTCQL07Z Limited Genetic Variation [1]
INAVA OTGXNB86 Limited Genetic Variation [1]
IRGM OTKD3O5Z Limited Genetic Variation [1]
JAZF1 OTXTYSYD Limited Genetic Variation [1]
MYRF OTKF6AEB Limited Genetic Variation [1]
NDFIP1 OTIORSWF Limited Genetic Variation [1]
NEUROG3 OT6DIPWC Limited Biomarker [7]
NFATC1 OT4TMERS Limited Genetic Variation [1]
PKIG OTOIWE5G Limited Genetic Variation [1]
PPP2R3C OT7E6V9B Limited Genetic Variation [1]
PRDM1 OTQLSVBS Limited Genetic Variation [1]
PTPN22 OTDCNTC3 Limited Genetic Variation [1]
PUS10 OTFFJWZX Limited Genetic Variation [1]
RAVER1 OTMHBTLE Limited Genetic Variation [1]
RDX OTNSYUN6 Limited Genetic Variation [1]
RMI2 OTA0HP4S Limited Genetic Variation [1]
SARNP OTE0OVK5 Limited Biomarker [8]
SBNO2 OT1C6J3K Limited Genetic Variation [1]
SETD1A OTVVWRIC Limited Genetic Variation [1]
SKAP2 OTSF44KP Limited Genetic Variation [1]
STK11 OT1YZSP3 Limited Genetic Variation [1]
THADA OTYZQX0F Limited Genetic Variation [1]
TMEM258 OTXSDU14 Limited Genetic Variation [1]
TNFRSF6B OTKAN9G7 Limited Genetic Variation [1]
TNIP1 OTRAOTEW Limited Genetic Variation [1]
TSPAN14 OT29167O Limited Genetic Variation [1]
CCDC88B OTEDUI2J Strong Genetic Variation [3]
CD226 OT4UG0KB Strong Genetic Variation [3]
CLEC16A OTLGV5SV Strong Genetic Variation [3]
DCTN4 OTM7C943 Strong Genetic Variation [9]
GNGT2 OTRI3Q10 Strong Genetic Variation [3]
HLA-DQB1 OTVVI3UI Strong Genetic Variation [9]
INPP5A OT9CMGMS Strong Genetic Variation [3]
KCNIP1 OTGLGK1R Strong Genetic Variation [9]
KIF12 OTTALNDD Strong Genetic Variation [10]
MST1 OTOC4UNG Strong Genetic Variation [3]
PRKD2 OTIFSVI8 Strong Genetic Variation [3]
SGSM1 OTS2PWT4 Strong Genetic Variation [3]
SP110 OTFW6WH7 Strong Genetic Variation [9]
SP140 OTQZHFMT Strong Genetic Variation [9]
TANGO6 OTWPKNN0 Strong Genetic Variation [3]
TCF4 OTB9ASTK Strong Genetic Variation [11]
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⏷ Show the Full List of 75 DOT(s)

References

1 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.Nat Genet. 2016 May;48(5):510-8. doi: 10.1038/ng.3528. Epub 2016 Mar 14.
2 Wnt/-Catenin Signaling Plays a Protective Role in the Mdr2 Knockout Murine Model of Cholestatic Liver Disease.Hepatology. 2020 May;71(5):1732-1749. doi: 10.1002/hep.30927. Epub 2019 Dec 31.
3 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.Nat Genet. 2017 Feb;49(2):269-273. doi: 10.1038/ng.3745. Epub 2016 Dec 19.
4 Hypoxia-inducible factor activation in myeloid cells contributes to the development of liver fibrosis in cholestatic mice.J Pharmacol Exp Ther. 2012 May;341(2):307-16. doi: 10.1124/jpet.111.189340. Epub 2012 Jan 23.
5 Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.Nat Genet. 2011 Jan;43(1):17-9. doi: 10.1038/ng.728. Epub 2010 Dec 12.
6 CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.Hepatology. 2017 Jul;66(1):286-288. doi: 10.1002/hep.29037. Epub 2017 May 9.
7 Activation of the developmental pathway neurogenin-3/microRNA-7a regulates cholangiocyte proliferation in response to injury.Hepatology. 2014 Oct;60(4):1324-35. doi: 10.1002/hep.27262. Epub 2014 Aug 25.
8 The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.Medicine (Baltimore). 2003 Nov;82(6):373-84. doi: 10.1097/01.md.0000100046.06009.b0.
9 Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.Gut. 2018 Aug;67(8):1517-1524. doi: 10.1136/gutjnl-2016-313598. Epub 2017 Aug 4.
10 Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25.
11 Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.Hepatology. 2013 Sep;58(3):1074-83. doi: 10.1002/hep.25977. Epub 2013 Jan 17.