Dyskeratosis congenita, autosomal dominant 2

Preferred Label : Dyskeratosis congenita, autosomal dominant 2;

Symbol : DKCA2;

CISMeF acronym : DKCA2; DKCB4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Dyskeratosis congenita, autosomal recessive 4; DKCB4;

Description : Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the telomerase reverse transcriptase gene (TERT, 187270.0007);

Laboratory abnormalities : Shortened telomeres; Decreased telomerase activity;

Prefixed ID : #613989;

Details

Origin ID

613989;

UMLS CUI

C3151443;

Automatic exact mappings (from CISMeF team)
- TERT wt Allele [NCIt concept]
- autosomal recessive dyskeratosis congenita 4 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Dominant 2 [NCIt concept]
- autosomal dominant dyskeratosis congenita 2 [DO Concept]
DO Cross reference
- autosomal dominant dyskeratosis congenita 2 [DO Concept]
Genes related to phenotype
- Telomerase reverse transcriptase [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Aplastic anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Avascular necrosis [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cerebellar hypoplasia [HPO term]
- Chronic diarrhea [HPO term]
- Dilated cardiomyopathy [HPO term]
- Esophageal stricture [HPO term]
- Failure to thrive [HPO term]
- Genetic anticipation [HPO term]
- Global developmental delay [HPO term]
- Leukopenia [HPO term]
- Microcephaly [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Osteoporosis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Pancytopenia [HPO term]
- Premature graying of hair [HPO term]
- Pulmonary fibrosis [HPO term]
- Reticulated skin pigmentation [HPO term]
- Short stature [HPO term]
- Thrombocytopenia [HPO term]
- Urethral stricture [HPO term]
ORDO concept(s)
- Dyskeratosis congenita [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis Congenita, Autosomal Dominant 2 [NCIt concept]
- autosomal dominant dyskeratosis congenita 2 [DO Concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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