" /> Xeroderma pigmentosum, complementation group a - CISMeF





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;

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30/07/2025


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