Dyskeratosis congenita, autosomal recessive 5

Preferred Label : Dyskeratosis congenita, autosomal recessive 5;

Symbol : DKCB5;

CISMeF acronym : DKCB5;

Type : Phenotype, molecular basis known;

Included titles and symbols : Dyskeratosis congenita, autosomal dominant 4; DKCA4;

Description : Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the regulator of telomere elongation helicase 1 gene (RTEL1, 608833.0001);

Laboratory abnormalities : Shortened telomeres in leukocytes; Fibroblasts may have normal telomere lengths;

Prefixed ID : #615190;

Détails

Origin ID

615190;

UMLS CUI

C3554656;

Automatic exact mappings (from CISMeF team)
- RTEL1 wt Allele [NCIt concept]
- autosomal dominant dyskeratosis congenita 4 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Recessive 5 [NCIt concept]
- autosomal recessive dyskeratosis congenita 5 [DO Concept]
DO Cross reference
- autosomal recessive dyskeratosis congenita 5 [DO Concept]
Genes related to phenotype
- Regulator of telomere elongation helicase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cerebellar hypoplasia [HPO term]
- Colitis [HPO term]
- Decreased circulating antibody level [HPO term]
- Esophageal stenosis [HPO term]
- Global developmental delay [HPO term]
- Immunodeficiency [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukopenia [HPO term]
- Microcephaly [HPO term]
- Nail dystrophy [HPO term]
- Postnatal growth retardation [HPO term]
- Variable expressivity [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal recessive dyskeratosis congenita (disorder) [SNOMED CT concept]
Not associated HPO term(s)
- Abnormality of skin pigmentation [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 Recessive 5 [NCIt concept]
- autosomal recessive dyskeratosis congenita 5 [DO Concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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