Xeroderma pigmentosum complementation group C

General Information (adopted from Orphanet):

Synonyms, Signs: XP, GROUP C
XERODERMA PIGMENTOSUM III
XPC
XP3
XPCC
Number of Symptoms 19
OrphanetNr: 276255
OMIM Id: 278720
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: Xeroderma pigmentosum
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000621) Entropion 12 / 7739
2
 (HPO:0000656) Ectropion 25 / 7739
3
 (HPO:0000509) Conjunctivitis 47 / 7739
4
 (HPO:0000613) Photophobia 158 / 7739
5
 (HPO:0000491) Keratitis 21 / 7739
6
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
7
 (HPO:0012056) Cutaneous melanoma 10 / 7739
8
 (HPO:0006739) Squamous cell carcinoma of the skin 6 / 7739
9
 (HPO:0001009) Telangiectasia 46 / 7739
10
 (HPO:0002671) Basal cell carcinoma 18 / 7739
11
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
12
 (HPO:0004334) Dermal atrophy 34 / 7739
13
 (HPO:0001029) Poikiloderma 23 / 7739
14
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
15
 (OMIM) Early onset skin cancer (basal cell, squamous cell and malignant melanoma) 6 / 7739
16
 (HPO:0011463) Childhood onset 65 / 7739
17
 (OMIM) Early freckle-like lesions in exposed areas 6 / 7739
18
 (OMIM) Actinic keratoses 6 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the ...
Clinical Description OMIM Lynch et al. (1984) suggested that complementation group C patients may be particularly prone to malignant melanoma.

Li et al. (1993) identified 2 patients with XPC confirmed by genetic analysis (613208.0003). Cell lines from these patients ...
Molecular genetics OMIM Li et al. (1993) identified changes in the XPC gene (see, e.g., 613208.0001-613208.0004) in 5 XPC cell lines. In 4 of them, Northern blot analysis of RNAs demonstrated subnormal levels of the XPC transcript, whereas the fifth exhibited ...
Population genetics OMIM Ben Rekaya et al. (2009) reported a high frequency of XPC in Tunisia. They reported 14 affected Tunisian families, 12 of which were consanguineous. Age at onset ranged from 1 to 96 months and the average age of ...