Details of Disease | DrugMAP

General Information of Disease (ID: DIS6G5UY)

Disease Name	Isolated neonatal sclerosing cholangitis
Synonyms	sclerosing cholangitis, neonatal; NSC
Definition	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Disease Hierarchy	DISYKSRF: Genetic disease DIS7GZNB: Sclerosing cholangitis DIS6G5UY: Isolated neonatal sclerosing cholangitis
Disease Identifiers	MONDO ID MONDO_0018816 UMLS CUI C4479344 OMIM ID 617394 MedGen ID 1393230 Orphanet ID 480556

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FURIN	TTH9WF6	Strong	Biomarker	[1]
GPR55	TTNET8J	Strong	Biomarker	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLDN1	OT27KV99	Strong	Genetic Variation	[3]
DCDC2	OTSUFH1H	Strong	Autosomal recessive	[4]
GMNC	OTMORU7G	Strong	Biomarker	[5]
MYCL	OT1MFQ5U	Strong	Biomarker	[6]
NUP153	OTCAS0AR	Strong	Altered Expression	[7]
SOX1	OTVI1RAR	Strong	Altered Expression	[8]
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⏷ Show the Full List of 6 DOT(s)

References

1	Adenosine potentiates the therapeutic effects of neural stem cells expressing cytosine deaminase against metastatic brain tumors.Oncol Rep. 2013 Sep;30(3):1101-6. doi: 10.3892/or.2013.2584. Epub 2013 Jul 3.
2	Activation of GPR55 induces neuroprotection of hippocampal neurogenesis and immune responses of neural stem cells following chronic, systemic inflammation.Brain Behav Immun. 2019 Feb;76:165-181. doi: 10.1016/j.bbi.2018.11.017. Epub 2018 Nov 19.
3	DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis. Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24.
4	DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31.
5	GemC1 is a critical switch for neural stem cell generation in the postnatal brain.Glia. 2019 Dec;67(12):2360-2373. doi: 10.1002/glia.23690. Epub 2019 Jul 22.
6	Long-term stability and computational analysis of migration patterns of L-MYC immortalized neural stem cells in the brain.PLoS One. 2018 Aug 2;13(8):e0199967. doi: 10.1371/journal.pone.0199967. eCollection 2018.
7	Altered Nup153 Expression Impairs the Function of Cultured Hippocampal Neural Stem Cells Isolated from a Mouse Model of Alzheimer's Disease.Mol Neurobiol. 2019 Aug;56(8):5934-5949. doi: 10.1007/s12035-018-1466-1. Epub 2019 Jan 28.
8	Generation of highly purified neural stem cells from human adipose-derived mesenchymal stem cells by Sox1 activation.Stem Cells Dev. 2014 Mar 1;23(5):515-29. doi: 10.1089/scd.2013.0263. Epub 2014 Jan 20.