Xeroderma pigmentosum, complementation group b

Preferred Label : Xeroderma pigmentosum, complementation group b;

Symbol : XPB;

CISMeF acronym : XPBC; XPB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xp, group b; XPBC;

Included titles and symbols : Xeroderma pigmentosum b/cockayne syndrome; Xpb/cs;

Description : For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 3 gene (ERCC3, 133510.0001);

Neoplasia : Melanoma; Basal cell carcinoma; Squamous cell carcinoma; Increased risk of malignancy;

Laboratory abnormalities : Decreased DNA excision repair; Increased cellular sensitivity to UV light;

Prefixed ID : #610651;

Details

Origin ID

610651;

UMLS CUI

C0268136;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 3, TFIIH core complex helicase subunit [ORDO Gene]
- ERCC excision repair 3, TFIIH core complex helicase subunit [HGNC gene]
- ERCC3 wt Allele [NCIt concept]
- Xeroderma Pigmentosum B-Cockayne Syndrome [MeSH Supplementary Concept]
- Xeroderma Pigmentosum B-Cockayne Syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum, Complementation Group B [NCIt concept]
- Xeroderma pigmentosum B [ICD-11 More detail]
- Xeroderma pigmentosum complementation group B [ORDO Disease]
- Xeroderma pigmentosum, group B (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group B [Disease (Nov.)]
- xeroderma pigmentosum group B [DO Concept]
- xeroderma pigmentosum, complementation group B [MeSH concept]
- xeroderma pigmentosum, complementation group B [MeSH Supplementary Concept]
- xeroderma pigmentosum, group b [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group B [DO Concept]
Genes related to phenotype
- Ercc excision repair 3, tfiih core complex helicase subunit [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Abnormal myelination [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Basal ganglia calcification [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cutaneous melanoma [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Dermal atrophy [HPO term]
- Freckling [HPO term]
- Hyperreflexia [HPO term]
- Hypogonadism [HPO term]
- Increased cellular sensitivity to UV light [HPO term]
- Increased risk of malignancy [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Neoplasm [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Progeroid facial appearance [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- Ventriculomegaly [HPO term]
- Wizened face [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group B [ORDO Disease]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum, Complementation Group B [NCIt concept]
- Xeroderma pigmentosum complementation group B [ORDO Disease]
- Xeroderma pigmentosum, group B (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group B [DO Concept]
- xeroderma pigmentosum group B [Disease (Nov.)]
- xeroderma pigmentosum, complementation group B [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group B [MeSH concept]
- xeroderma pigmentosum, group b [SNOMED Notion]
Validated automatic mappings to NTBT
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]

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