Details of Disease | DrugMAP

General Information of Disease (ID: DISJ3Y69)

Disease Name	Dyskeratosis congenita, X-linked
Synonyms	dyskeratosis congenita X-linked; Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia; cerebellar hypoplasia with pancytopenia; Zinsser-Cole-Engman syndrome; X-linked dyskeratosis congenita; dyskeratosis congenita, X-linked; dyskeratosis congenita, X-linked, X-linked recessive; Hoyeraal Hreidarsson syndrome; DKCX
Definition	X-linked form of dyskeratosis congenita.
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DISP865O: DKC1-related disorder DIS3PN9X: X-linked disease DISJ3Y69: Dyskeratosis congenita, X-linked
Disease Identifiers	MONDO ID MONDO_0010584 MESH ID D019871 UMLS CUI C1148551 OMIM ID 305000 MedGen ID 216941 SNOMED CT ID 708536001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TERT	TTQY2EJ	Limited	Altered Expression	[1]
CD59	TTBGTEJ	Strong	Biomarker	[2]
NPM1	TTHBS98	Strong	Biomarker	[3]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RTEL1	OTI3PJCT	moderate	Genetic Variation	[4]
ACD	OTC54EPO	Strong	Genetic Variation	[5]
DCLRE1B	OT2LFW7A	Strong	Genetic Variation	[6]
GAR1	OTA580RX	Strong	Biomarker	[7]
SHQ1	OTFBXX2H	Strong	Biomarker	[8]
TRUB1	OT15EP5B	Strong	Genetic Variation	[9]
DKC1	OTX7DJR6	Definitive	X-linked	[10]
PARN	OTTG4PE3	Definitive	Genetic Variation	[11]
TINF2	OT861N2N	Definitive	Biomarker	[12]
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⏷ Show the Full List of 9 DOT(s)

References

1	The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.Hum Mol Genet. 2012 Feb 15;21(4):721-9. doi: 10.1093/hmg/ddr504. Epub 2011 Nov 4.
2	Targeted therapy with eculizumab for inherited CD59 deficiency.N Engl J Med. 2014 Jan 2;370(1):90-2. doi: 10.1056/NEJMc1308104.
3	Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita. Nat Genet. 2019 Oct;51(10):1518-1529. doi: 10.1038/s41588-019-0502-z. Epub 2019 Sep 30.
4	Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23.
5	Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.
6	Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. Proc Natl Acad Sci U S A. 2010 Jun 1;107(22):10097-102. doi: 10.1073/pnas.0914918107. Epub 2010 May 17.
7	Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing.PLoS One. 2012;7(1):e30188. doi: 10.1371/journal.pone.0030188. Epub 2012 Jan 27.
8	Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.Hum Mol Genet. 2009 Dec 1;18(23):4546-51. doi: 10.1093/hmg/ddp416. Epub 2009 Sep 4.
9	The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.Int J Mol Med. 2003 Jun;11(6):697-704.
10	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
11	From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15.
12	TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31.