XP-F
MCID: XRD031
MIFTS: 54
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Xeroderma Pigmentosum, Complementation Group F (XP-F)
Categories:
Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group F:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype one patient with additional features of fanconi anemia has been reported HPO:32
xeroderma pigmentosum, complementation group f:
Onset and clinical course phenotypic variability Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Skin diseases
ICD10:
33
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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... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:278760Human phenotypes related to Xeroderma Pigmentosum, Complementation Group F:32 (show all 20)
GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group F:46
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group F:41
Skin,
Brain,
Eye,
Lung,
Myeloid
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Articles related to Xeroderma Pigmentosum, Complementation Group F:(show all 20)
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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Complementation Group F:75 (show all 11)
ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group F:6 (show top 50) (show all 130)
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Search
GEO
for disease gene expression data for Xeroderma Pigmentosum, Complementation Group F.
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Pathways related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:
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Cellular components related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:
Biological processes related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:(show all 31)
Molecular functions related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:(show all 16)
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