Dyskeratosis congenita, autosomal dominant 1

Preferred Label : Dyskeratosis congenita, autosomal dominant 1;

Symbol : DKCA1;

CISMeF acronym : DKCA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyskeratosis congenita, scoggins type;

Description : 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 (review by Bessler et al., 2007 and Bessler et al., 2010). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). - Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome Dyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 (613989), caused by mutation in the TERT gene (187270) on chromosome 5p1; DKCA3 (613990), caused by mutation in the TINF2 gene (604319) on chromosome 14q12; and;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the telomerase RNA component gene (TERC, 602322.0001);

Neoplasia : Squamous cell carcinoma of the skin;

Laboratory abnormalities : Shortened telomeres;

Prefixed ID : #127550;

Details

Origin ID

127550;

UMLS CUI

C4551974;

Automatic exact mappings (from CISMeF team)
- TERC wt Allele [NCIt concept]
Broader ORDO disease(s)
- Dyskeratosis congenita [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant dyskeratosis congenita [ICD-11 More detail]
- Autosomal dominant dyskeratosis congenita (disorder) [SNOMED CT concept]
- Dyskeratosis Congenita, Autosomal Dominant 1 [NCIt concept]
- autosomal dominant dyskeratosis congenita 1 [DO Concept]
- dyskeratosis congenita, autosomal dominant [MeSH Supplementary Concept]
- dyskeratosis congenita, autosomal dominant [MeSH concept]
DO Cross reference
- autosomal dominant dyskeratosis congenita 1 [DO Concept]
Genes related to phenotype
- Telomerase rna component [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Anemia [HPO term]
- Aplastic anemia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Carious teeth [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cirrhosis [HPO term]
- Dermal atrophy [HPO term]
- Interstitial pneumonitis [HPO term]
- Lymphopenia [HPO term]
- Myelodysplasia [HPO term]
- Nail dystrophy [HPO term]
- Nail pits [HPO term]
- Oral leukoplakia [HPO term]
- Osteoporosis [HPO term]
- Premature graying of hair [HPO term]
- Premature loss of teeth [HPO term]
- Pulmonary fibrosis [HPO term]
- Reticular hyperpigmentation [HPO term]
- Ridged nail [HPO term]
- Sparse hair [HPO term]
- Specific learning disability [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- Thrombocytopenia [HPO term]
- hypoplastic myelodysplasia [HPO term]
ORDO concept(s)
- Dyskeratosis congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant dyskeratosis congenita (disorder) [SNOMED CT concept]
- Dyskeratosis Congenita, Autosomal Dominant 1 [NCIt concept]
- autosomal dominant dyskeratosis congenita 1 [DO Concept]
- dyskeratosis congenita, autosomal dominant [MeSH Supplementary Concept]
- dyskeratosis congenita, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant dyskeratosis congenita (disorder) [SNOMED CT concept]
- Dyskeratosis congenita [ORDO Disease]
- dyskeratosis congenita, autosomal dominant [MeSH concept]

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