Dyskeratosis Congenita, Autosomal Dominant 2 (DKCA2)

Alias:

Autosomal Recessive Dyskeratosis Congenita 4

Dkca2

Dyskeratosis Congenita, Autosomal Recessive, 4

Dyskeratosis Congenita, Autosomal Dominant, 2

Autosomal Dominant Dyskeratosis Congenita 2

Dyskeratosis Congenita Scoggins Type

Dkcb4

Dyskeratosis Congenita, Autosomal Dominant, Type 2

Dyskeratosis Congenita, Autosomal Recessive 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dyskeratosis Congenita, Autosomal Dominant 2, also known as autosomal recessive dyskeratosis congenita 4, is related to dyskeratosis congenita, autosomal dominant 1 and idiopathic aplastic anemia. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 2 is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are Regulation of Telomerase and Telomere Extension by Telomerase. Affiliated tissues include bone marrow and bone, and related phenotypes are osteoporosis and premature graying of hair

Related ID：

MALACARDS：DYS143

OMIM：613989

MESH：D019871