Dyskeratosis congenita, autosomal recessive 3

Preferred Label : Dyskeratosis congenita, autosomal recessive 3;

Symbol : DKCB3;

CISMeF acronym : DKCB3;

Type : Phenotype, molecular basis known;

Description : Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein antisense to TP53 gene (WRAP53, 612661.0001);

Neoplasia : Squamous cell carcinoma;

Laboratory abnormalities : Shortened telomeres;

Prefixed ID : #613988;

Details

Origin ID

613988;

UMLS CUI

C3151442;

Automatic exact mappings (from CISMeF team)
- WRAP53 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Recessive 3 [NCIt concept]
- autosomal recessive dyskeratosis congenita 3 [DO Concept]
DO Cross reference
- autosomal recessive dyskeratosis congenita 3 [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein antisense to tp53 [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Nail dystrophy [HPO term]
- Oral leukoplakia [HPO term]
- Pancytopenia [HPO term]
- Short telomere length [HPO term]
- Squamous cell carcinoma of the tongue [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal recessive dyskeratosis congenita (disorder) [SNOMED CT concept]
ORDO concept(s)
- Dyskeratosis congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis Congenita, Autosomal Recessive 3 [NCIt concept]
- autosomal recessive dyskeratosis congenita 3 [DO Concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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