Disease #02136 (XPE (xeroderma pigmentosum, complementation group E (XPE)), OMIM:278740)

Official abbreviation XPE
Name xeroderma pigmentosum, complementation group E (XPE)
OMIM ID 278740
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 16
Phenotype entries for this disease 14
Associated with 1 gene DDB2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00436164 FamPat2 PubMed: de Souza Timoteo 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes Brazil - - - - - XPE see paper; ..., early-onset skin cancer - DDB2 1 2 Johan den Dunnen
00436165 FamPatII4 PubMed: de Souza Timoteo 2023 sister F yes Brazil - - - - - XPE see paper; ..., early-onset skin cancer - DDB2 1 1 Johan den Dunnen
00436166 XP2RO PubMed: Nichols 1996 - - - Netherlands - - - - - XPE - DDB1, DDB2 DDB2 1 1 Johan den Dunnen
00436167 XP82TO PubMed: Nichols 1996 - - - Japan - - - - - XPE - - DDB2 1 1 Johan den Dunnen
00436168 Ops1 PubMed: Itoh 1999 - F - Japan - - - - - XPE see paper; ..., photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas DDB1, DDB2 DDB2 1 1 Johan den Dunnen
00436172 XP23PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - XPE - DDB2 DDB2 1 1 Johan den Dunnen
00436173 XP27PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - XPE - DDB2 DDB2 1 1 Johan den Dunnen
00436174 XP25PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - XPE - DDB2 DDB2 1 1 Johan den Dunnen
00436175 GM01389 PubMed: Nichols 2000, PubMed: Rapic-Otrin 2003 - - - United States - - - - - XPE - DDB2 DDB2 2 1 Johan den Dunnen
00436176 XP51/73MAH-1 PubMed: Ben Rekaya 2018 5-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives F;M yes Tunisia - - - - - XPE see paper; ... - DDB2 1 1 Johan den Dunnen
00436180 patient PubMed: Vahteristo 2007 - M - Finland - - - - - XPE see paper; ..., nasal spinocellular carcinoma, facial spinocellular carcinoma - DDB2 1 1 Johan den Dunnen
00436181 XP1GO PubMed: Oh 2011 2-generation family, 1 affected, unaffected heterozygous parents/relatives M - Germany - - - - - XPE see paper; ..., <30y-more then 400 basal cell carcinomas/squamous cell carcinomas, 6 melanomas DDB2 DDB2 1 1 Johan den Dunnen
00436182 FamBPatXP37BE PubMed: Oh 2011 2-generation family, affected sister/brother, unaffected heterozygous parents/relatives F - Netherlands;United States - - - - - XPE see paper; ..., >300 basal cell carcinomas/squamous cell carcinomas, no melanomas DDB2 DDB2 1 2 Johan den Dunnen
00436183 FamBPatXP66BE PubMed: Oh 2011 brother M - United States - - - - - XPE see paper; ..., <40y-six melanomas DDB2 DDB2 1 1 Johan den Dunnen
00436184 XP408BE/GM01389 PubMed: Oh 2011 - F - United States white - - - - XPE see paper; ..., no sunburns, tanned easily, no significant photophobia; 14y-multiple skin cancers (basal cell carcinomas and squamous cell carcinomas) on face; no XP neurological abnormalities; before 5oy->600 basal cell carcinomas and squamous cell carcinomas and 12 melanomas DDB2 DDB2 2 1 Johan den Dunnen
00436185 patient PubMed: Yang 2020 2-generation family, 1 affected, unaffected heterozygous parents F yes China - - - - - XPE see paper; ..., freckle-like hyperpigmented macules in sun-exposed areas; recurrent ulceration, bleeding, crusted nodules on her nose DDB2 DDB2 1 1 Johan den Dunnen
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