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GTR Home > Conditions/Phenotypes > Dyskeratosis congenita, autosomal recessive 8

Dyskeratosis congenita, autosomal recessive 8

Summary

Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: APOLLO, DKCB8, SNM1B, SNMIB, DCLRE1B
    Summary: DNA cross-link repair 1B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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