Pulmonary Fibrosis_Interstitial Lung Disease

Gene: TERC

Green List (high evidence)

Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others.

Well established gene-disease association.

Created: 26 Mar 2022, 2:46 a.m. | Last Modified: 26 Mar 2022, 2:46 a.m.

Panel Version: 0.11980

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyskeratosis congenita, autosomal dominant 1, MIM# 127550

Publications

• 11574891