Dyskeratosis congenita, autosomal recessive 2

Preferred Label : Dyskeratosis congenita, autosomal recessive 2;

Symbol : DKCB2;

CISMeF acronym : DKCB2;

Type : Phenotype, molecular basis known;

Description : Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 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 2 gene (NOLA2, 606470.0001);

Laboratory abnormalities : Shortened telomeres;

Prefixed ID : #613987;

Details

Origin ID

613987;

UMLS CUI

C3151441;

Automatic exact mappings (from CISMeF team)
- NHP2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Dyskeratosis Congenita, Autosomal Recessive 2 [NCIt concept]
- autosomal recessive dyskeratosis congenita 2 [DO Concept]
DO Cross reference
- autosomal recessive dyskeratosis congenita 2 [DO Concept]
Genes related to phenotype
- Nhp2 ribonucleoprotein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cerebral calcification [HPO term]
- Cirrhosis [HPO term]
- Growth delay [HPO term]
- Intellectual disability [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Pancytopenia [HPO term]
- Reticulated skin pigmentation [HPO term]
- Testicular atrophy [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 2 [NCIt concept]
- autosomal recessive dyskeratosis congenita 2 [DO Concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [ORDO Disease]

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