Dyskeratosis congenita, X-linked

Preferred Label : Dyskeratosis congenita, X-linked;

Symbol : DKCX;

CISMeF acronym : HHS; DKCX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Zinsser-cole-engman syndrome;

Included titles and symbols : Hoyeraal-hreidarsson syndrome; Cerebellar hypoplasia with pancytopenia; Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia; HHS;

Description : Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. 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. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the dyskerin gene (DKC1, 300126.0001);

Neoplasia : Squamous cell carcinoma (skin or mucosa); Acute myeloid leukemia; Hodgkin disease; Pancreatic carcinoma;

Laboratory abnormalities : Increased chromosomal rearrangements (bone marrow and fibroblast culture);

Prefixed ID : #305000;

Details

Origin ID

305000;

UMLS CUI

C1148551;

Automatic exact mappings (from CISMeF team)
- DKC1 wt Allele [NCIt concept]
- Department of Health and Human Services [NCIt concept]
- Dyskeratosis congenita [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome [ICD-11 More detail]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
- Hoyeraal-Hreidarsson syndrome (disorder) [SNOMED CT concept]
- Zinsser-Cole-Engman syndrome [MeSH concept]
- dyskeratosis congenita [MeSH Descriptor]
- dyskeratosis congenita [SNOMED Notion]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- hypotrichosis 1 [DO Concept]
- polypeptide N-acetylgalactosaminyltransferase 3 [ORDO Gene]
Broader ORDO disease(s)
- Dyskeratosis congenita [ORDO Disease]
CISMeF manual mappings
- X-linked dyskeratosis congenita (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- X-Linked Dyskeratosis Congenita [NCIt concept]
- X-linked dyskeratosis congenita [DO Concept]
DO Cross reference
- X-linked dyskeratosis congenita [DO Concept]
Genes related to phenotype
- Dyskerin [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Alopecia [HPO term]
- Anal mucosal leukoplakia [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Blepharitis [HPO term]
- Bone marrow hypocellularity [HPO term]
- Carcinoma [HPO term]
- Carious teeth [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cirrhosis [HPO term]
- Conjunctivitis [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Dermal atrophy [HPO term]
- Epiphora [HPO term]
- Epiphora [HPO term]
- Esophageal stricture [HPO term]
- Global developmental delay [HPO term]
- Hodgkin lymphoma [HPO term]
- Horseshoe kidney [HPO term]
- Hyperhidrosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypospadias [HPO term]
- Immunodeficiency [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukopenia [HPO term]
- Longitudinal ridging [HPO term]
- Microcephaly [HPO term]
- Myelodysplasia [HPO term]
- Nail dystrophy [HPO term]
- Optic atrophy [HPO term]
- Oral leukoplakia [HPO term]
- Osteoporosis [HPO term]
- Pancytopenia [HPO term]
- Phimosis [HPO term]
- Premature graying of hair [HPO term]
- Premature loss of teeth [HPO term]
- Pterygium [HPO term]
- Pterygium of nails [HPO term]
- Pulmonary fibrosis [HPO term]
- Restrictive ventilatory defect [HPO term]
- Reticulated skin pigmentation [HPO term]
- Ridged nail [HPO term]
- Short stature [HPO term]
- Sparse eyelashes [HPO term]
- Split nail [HPO term]
- Squamous cell carcinoma [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Urethral stenosis [HPO term]
- X-linked recessive inheritance [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 [PASCAL descriptor]
- X-Linked Dyskeratosis Congenita [NCIt concept]
- X-linked dyskeratosis congenita [DO Concept]
- X-linked dyskeratosis congenita (disorder) [SNOMED CT concept]
- Zinsser-Cole-Engman syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Hoyeraal Hreidarsson syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Dyskeratosis Congenita [NCIt concept]
- Dyskeratosis congenita [PASCAL descriptor]
- Dyskeratosis congenita [ORDO Disease]
- Dyskeratosis congenita (disorder) [SNOMED CT concept]
- dyskeratosis congenita [MeSH Descriptor]

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