Xeroderma pigmentosum complementation group A
General Information (adopted from Orphanet):
| Synonyms, Signs: |
XP, GROUP A XERODERMA PIGMENTOSUM I XPA XP1 |
| Number of Symptoms | 25 |
| OrphanetNr: | 276249 |
| OMIM Id: |
278700
|
| ICD-10: |
Q82.1 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive cerebellar ataxia due to a DNA repair defect
-Rare eye disease -Rare genetic disease -Rare neurologic disease Xeroderma pigmentosum -Rare developmental defect during embryogenesis -Rare genetic disease -Rare oncologic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0000656) | Ectropion | 25 / 7739 | ||||
|
|
(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
|
|
(HPO:0000621) | Entropion | 12 / 7739 | ||||
|
|
(HPO:0000509) | Conjunctivitis | 47 / 7739 | ||||
|
|
(HPO:0000613) | Photophobia | 158 / 7739 | ||||
|
|
(HPO:0000491) | Keratitis | 21 / 7739 | ||||
|
|
(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
|
|
(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
|
(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
|
|
(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
|
|
(HPO:0001257) | Spasticity | 251 / 7739 | ||||
|
|
(HPO:0004334) | Dermal atrophy | 34 / 7739 | ||||
|
|
(HPO:0001009) | Telangiectasia | 46 / 7739 | ||||
|
|
(HPO:0001029) | Poikiloderma | 23 / 7739 | ||||
|
|
(HPO:0001048) | Cavernous hemangioma | 28 / 7739 | ||||
|
|
(HPO:0000992) | Cutaneous photosensitivity | 75 / 7739 | ||||
|
|
(HPO:0003079) | Defective DNA repair after ultraviolet radiation damage | 9 / 7739 | ||||
|
|
(OMIM) | Early onset skin cancer (basal cell, squamous cell and malignant melanoma) | 6 / 7739 | ||||
|
|
(OMIM) | Actinic keratoses | 6 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Increased/decreased skin pigment | 5 / 7739 | ||||
|
|
(OMIM) | Early freckle-like lesions in exposed areas | 6 / 7739 | ||||
|
|
(MedDRA:10023347) | Keratoacanthoma | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Ruder (cited by Cockayne, 1933) observed the condition in 7 out of 13 sibs. Kanda et al. (1990) indicated that most patients with group A XP, the most common form in Japan, show involvement of the ... |
| Genotype-Phenotype Correlations OMIM |
States et al. (1998) performed a mutation analysis on XPA cell lines from 19 American and European patients. Most mutations were deletions and splice site mutations, observed previously in other XPA patients in exon 3, intron 3, or ... |
| Molecular genetics OMIM |
Most Japanese patients with XP group A were found by Tanaka et al. (1990) to have a splice site mutation in the XPA gene (611153.0001). In these patients, reduced amount of mRNA of reduced size was found on ... |