Dyskeratosis congenita, autosomal dominant 6

Preferred Label : Dyskeratosis congenita, autosomal dominant 6;

Symbol : DKCA6;

CISMeF acronym : DKCA6; DKCB7;

Type : Phenotype, molecular basis known;

Included titles and symbols : Dyskeratosis congenita, autosomal recessive 7; DKCB7;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the ACD shelterin complex subunit and telomerase recruitment factor gene (ACD, 609377.0001);

Neoplasia : Increased susceptibility to cancer;

Laboratory abnormalities : Shortened telomeres;

Prefixed ID : #616553;

Détails

Origin ID

616553;

UMLS CUI

C4225284;

Automatic exact mappings (from CISMeF team)
- autosomal dominant dyskeratosis congenita 6 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Dominant 6 [NCIt concept]
DO Cross reference
- autosomal dominant dyskeratosis congenita 6 [DO Concept]
Genes related to phenotype
- Acd shelterin complex subunit and telomerase recruitment factor [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]
- Bone marrow hypocellularity [HPO term]
- Cerebellar hypoplasia [HPO term]
- Esophageal stenosis [HPO term]
- Global developmental delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Nail dystrophy [HPO term]
- Oral leukoplakia [HPO term]
- Pancytopenia [HPO term]
ORDO concept(s)
- Hereditary isolated aplastic anemia [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis Congenita, Autosomal Dominant 6 [NCIt concept]

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