" /> Revesz syndrome - CISMeF





Preferred Label : Revesz syndrome;

CISMeF acronym : DKCA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DKCA5; Dyskeratosis congenita, autosomal dominant 5; Exudative retinopathy with bone marrow failure;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TRF1-interacting nuclear factor 2 gene (TINF2, 604319.0002);

Laboratory abnormalities : Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division); Shortened telomeres;

Prefixed ID : #268130;

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27/07/2025


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