Dyskeratosis congenita, autosomal dominant 3

Preferred Label : Dyskeratosis congenita, autosomal dominant 3;

Symbol : DKCA3;

CISMeF acronym : DKCA3;

Type : Phenotype, molecular basis known;

Description : Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TRF1-interacting nuclear factor 2 gene (TINF2, 604319.0001);

Neoplasia : Increased risk of malignancy;

Laboratory abnormalities : Shortened telomeres; Decreased telomerase activity;

Prefixed ID : #613990;

Détails

Origin ID

613990;

UMLS CUI

C3151445;

Automatic exact mappings (from CISMeF team)
- TINF2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Dominant 3 [NCIt concept]
- autosomal dominant dyskeratosis congenita 3 [DO Concept]
DO Cross reference
- autosomal dominant dyskeratosis congenita 3 [DO Concept]
Genes related to phenotype
- Terf1-interacting nuclear factor 2 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Aplastic anemia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral calcification [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Dry skin [HPO term]
- Epiphora [HPO term]
- Fine hair [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukopenia [HPO term]
- Microcephaly [HPO term]
- Nail dysplasia [HPO term]
- Oral leukoplakia [HPO term]
- Osteoporosis [HPO term]
- Pancytopenia [HPO term]
- Premature graying of hair [HPO term]
- Pulmonary fibrosis [HPO term]
- Reticulated skin pigmentation [HPO term]
- Retinopathy [HPO term]
- Short stature [HPO term]
- Thrombocytopenia [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 3 [NCIt concept]
- autosomal dominant dyskeratosis congenita 3 [DO Concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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