Dyskeratosis congenita, autosomal recessive 1

Preferred Label : Dyskeratosis congenita, autosomal recessive 1;

Symbol : DKCB1;

CISMeF acronym : DKCB1;

Type : Phenotype, molecular basis known;

Description : Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nucleolar protein family A, member 3 gene (NOLA3, 606471.0001);

Neoplasia : Increased risk of malignancy (classic feature);

Laboratory abnormalities : Shortened telomeres (classic feature, NOLA3 patient);

Prefixed ID : #224230;

Details

Origin ID

224230;

UMLS CUI

C1857144;

Automatic exact mappings (from CISMeF team)
- NOP10 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Dyskeratosis congenita [ORDO Disease]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Recessive 1 [NCIt concept]
- autosomal recessive dyskeratosis congenita 1 [DO Concept]
DO Cross reference
- autosomal recessive dyskeratosis congenita 1 [DO Concept]
Genes related to phenotype
- Nop10 ribonucleoprotein [OMIM gene]
HPO term(s)
- Aplastic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Carious teeth [HPO term]
- Epiphora [HPO term]
- Epiphora [HPO term]
- Esophageal stricture [HPO term]
- Hepatic fibrosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Oral leukoplakia [HPO term]
- Osteoporosis [HPO term]
- Pterygium [HPO term]
- Pterygium of nails [HPO term]
- Pulmonary fibrosis [HPO term]
- Small nail [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Thrombocytopenia [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 1 [NCIt concept]
- autosomal recessive dyskeratosis congenita 1 [DO Concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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