Details of Disease

General Information of Disease (ID: DISLXQHV)

Disease Name Telomere syndrome
Synonyms STS; short telomere syndrome
Definition Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.
Disease Hierarchy
DIS51AGT: Premature aging syndrome
DISLXQHV: Telomere syndrome
Disease Identifiers
MONDO ID
MONDO_0100137
UMLS CUI
C4727832
MedGen ID
1668986

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CTC1 OTRJY7QD Strong Genetic Variation [1]
PARN OTTG4PE3 Strong Genetic Variation [2]
TINF2 OT861N2N Strong Biomarker [3]
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References

1 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.Aging Cell. 2013 Dec;12(6):1100-9. doi: 10.1111/acel.12139. Epub 2013 Sep 4.
2 Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5.
3 TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity.Mol Cell Biol. 2019 Oct 11;39(21):e00593-18. doi: 10.1128/MCB.00593-18. Print 2019 Nov 1.