Details of Disease | DrugMAP

General Information of Disease (ID: DISPIS3W)

Disease Name	Revesz syndrome
Synonyms	DKCA5; Revesz syndrome; Revesz-DeBuse syndrome; exudative retinopathy with bone marrow failure; dyskeratosis congenita with bilateral exudative retinopathy; retinopathy-anemia-central nervous system anomalies syndrome; dyskeratosis congenita, autosomal dominant 5
Definition	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DISGGL77: Inherited retinal dystrophy DISPIS3W: Revesz syndrome
Disease Identifiers	MONDO ID MONDO_0009990 MESH ID C538371 UMLS CUI C1327916 OMIM ID 268130 MedGen ID 231230 Orphanet ID 3088 SNOMED CT ID 723512008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TINF2	OT861N2N	Definitive	Autosomal dominant	[1]
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References

1	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.