Xeroderma Pigmentosum, Complementation Group F (XP-F)

External Ids:

OMIM 57 278760 Disease Ontology 12 DOID:0110848 ICD10 33 Q82.1 MedGen 42 C0268140 C3806565 CN177726

MeSH 44 D014983 D003057 SNOMED-CT via HPO 69 258211005 271611007 103276001 15188001 343087000 95828007 82649003 246923005 80093006 563001 52448006 90128006 228156007 247578003 91138005 85102008 26079004 203598005 385522000 55033002 57048009 7890003 88565003 23853001 111266001 64217002 237836003 161832001 248342006 262285001 89362005 278849000 418143002 52522001 711403001 25694009 443871003 more UMLS 73 C0268140 C3806565

UniProtKB/Swiss-Prot : ⁷⁵ Xeroderma pigmentosum complementation group F: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. Xeroderma pigmentosum type F/Cockayne syndrome: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group F, also known as xeroderma pigmentosum, group f, is related to xeroderma pigmentosum, complementation group a and basal cell carcinoma. An important gene associated with Xeroderma Pigmentosum, Complementation Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and eye, and related phenotypes are brain atrophy and nystagmus

Disease Ontology : ¹² A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has material basis in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

OMIM : ⁵⁷ Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (278700), and of Cockayne syndrome, see CSA (216400). (278760)

Wikipedia : ⁷⁶ Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

Clinical features from OMIM:

278760

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.72	DDB2 EME1 ERCC1 ERCC4 ERCC5 XRCC3
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.72	DDB2 EME1 ERCC1 ERCC4 ERCC5 XRCC3
3	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.7	DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group F

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Complementation Group F.