Xeroderma pigmentosum variant
General Information (adopted from Orphanet):
| Synonyms, Signs: |
XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS XPV |
| Number of Symptoms | 29 |
| OrphanetNr: | 90342 |
| OMIM Id: |
278750
|
| ICD-10: |
Q82.1 |
| UMLs: |
C0432328 C1848410 |
| MeSH: |
C536766 |
| MedDRA: |
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| Snomed: |
88877002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Xeroderma pigmentosum
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare oncologic disease -Rare skin disease |
Symptom Information:
|
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(HPO:0000656) | Ectropion | 25 / 7739 | ||||
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(HPO:0000621) | Entropion | 12 / 7739 | ||||
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(HPO:0000509) | Conjunctivitis | 47 / 7739 | ||||
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(HPO:0000491) | Keratitis | 21 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0004334) | Dermal atrophy | 34 / 7739 | ||||
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(HPO:0001009) | Telangiectasia | 46 / 7739 | ||||
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(HPO:0007587) | Numerous pigmented freckles | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0002671) | Basal cell carcinoma | 18 / 7739 | ||||
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(HPO:0100585) | Telangiectasia of the skin | Frequent [Orphanet] | 66 / 7739 | |||
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(HPO:0001029) | Poikiloderma | Very frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0012056) | Cutaneous melanoma | 10 / 7739 | ||||
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(HPO:0002860) | Squamous cell carcinoma | 18 / 7739 | ||||
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(HPO:0000992) | Cutaneous photosensitivity | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0001048) | Cavernous hemangioma | 28 / 7739 | ||||
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(MedDRA:10023347) | Keratoacanthoma | 6 / 7739 | ||||
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(OMIM) | Early freckle-like lesions in exposed areas | 6 / 7739 | ||||
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(OMIM) | Normal DNA repair after ultraviolet radiation | 1 / 7739 | ||||
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(OMIM) | Increased/decreased skin pigment | 5 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Early onset skin cancer (basal cell, squamous cell and malignant melanoma) | 6 / 7739 | ||||
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(OMIM) | damage. Inheritance: Autosomal recessive | 1 / 7739 | ||||
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(OMIM) | Actinic keratoses | 6 / 7739 | ||||
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(OMIM) | Defect in recovery of post-UV DNA synthesis | 1 / 7739 | ||||
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(HPO:0012740) | Papilloma | Very frequent [Orphanet] | 17 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700). Some patients with xeroderma pigmentosum have been found ... |
| Diagnosis OMIM |
Itoh et al. (1996) reported a method for the diagnosis of XPV that utilized the measurement of 3 cellular markers of DNA repair by autoradiography: unscheduled DNA synthesis (UDS), recovery of RNA synthesis (RRS), and recovery of replicative ... |
| Clinical Description OMIM |
Fujiwara et al. (1981) reported studies of cultured cells from an 8-year-old boy, the son of first-cousin parents, who, they suggested, had a 'new' form of photodermatosis with a defect in the recovery of post-UV DNA synthesis. He ... |
| Molecular genetics OMIM |
Masutani et al. (1999) identified the POLH gene and determined that it is the human homolog of yeast Rad30. The authors identified mutations in the POLH gene (603968.0001-603968.0005) in cell lines derived from patients with XPV. ... |