Xeroderma pigmentosum, complementation group a

Preferred Label : Xeroderma pigmentosum, complementation group a;

Symbol : XPA;

CISMeF acronym : XPA; XP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xp, group a; Xeroderma pigmentosum I; XP1;

Description : Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (278800) (Satokata et al., 1992). See also XPB (610651), XPC (278720), XPD (278730), XPE (278740), XPF (278760), XPG (278780), and variant XP (XPV; 278750).;

Inheritance : Autosomal recessive; with at least 4 loci;

Prefixed ID : #278700;

Details

Origin ID

278700;

UMLS CUI

C0268135;

Automatic exact mappings (from CISMeF team)
- XPA Gene [NCIt concept]
- XPA wt Allele [NCIt concept]
- XPA, DNA damage recognition and repair factor [HGNC gene]
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma pigmentosum [PASCAL descriptor]
- xeroderma pigmentosum [MeSH Descriptor]
- xeroderma pigmentosum [MeSH concept]
Currated CISMeF NLP mapping
- DNA Repair Protein Complementing XP-A Cells [NCIt concept]
- XPA, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma Pigmentosum, Complementation Group A [NCIt concept]
- Xeroderma pigmentosum A [ICD-11 More detail]
- Xeroderma pigmentosum complementation group A [ORDO Disease]
- Xeroderma pigmentosum, group A (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group A [Disease (Nov.)]
- xeroderma pigmentosum group A [DO Concept]
- xeroderma pigmentosum, group a [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group A [DO Concept]
Genes related to phenotype
- Xpa, dna damage recognition and repair factor [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Conjunctivitis [HPO term]
- Cutaneous photosensitivity [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Dermal atrophy [HPO term]
- Ectropion [HPO term]
- Entropion [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Low intelligence [HPO term]
- Melanoma [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Photophobia [HPO term]
- Poikiloderma [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Telangiectasia [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XPA, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma Pigmentosum, Complementation Group A [NCIt concept]
- Xeroderma pigmentosum, group A (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group A [Disease (Nov.)]
- xeroderma pigmentosum, group a [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients