Name: Dyskeratosis congenita 3 | Acronym: DKC3
Alt. names: Dyskeratosis congenita, autosomal recessive, 3 | autosomal recessive dyskeratosis congenita 3

Gene: WRAP53 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 2 | First reported in: 2011

Last updated on: 2023-02-28 16:41:18 by

OMIM: 613988

Orphanet: -

MONDO: 0013520

DOID: 0070019

ClinGen:

A rare autosomal recessive form of dyskeratosis congenita caused by biallelic mutations in the gene WRAP53. Only 3 unrelated families have been described so far. Clinical presentation is that found in dyskeratosis congenita: leukoplakia, bone marrow failure, hyperpigmentation and nail dystrophy.

Surveillance (eg, with regularly performed CBC as well as other measures in the presence of concern for hematologic sequelae) for bone marrow failure, as well as surveillance for multiple cancer types (eg, with self-examination and clinical examination), and pulmonary disease may allow early detection and treatment. Lung transplant may be indicated in individuals with advanced lung diease. HSCT may be indicated due to manifestations including leukemia and bone marrow failure (which may also be treated with androgen therapy), but the long-term efficacy may not be optimal.