Xeroderma pigmentosum complementation group E

General Information (adopted from Orphanet):

Synonyms, Signs: XERODERMA PIGMENTOSUM V
XP, GROUP E
XP5
XPE
Number of Symptoms 20
OrphanetNr: 276261
OMIM Id: 278740
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:0000491) Keratitis 21 / 7739
5
 (HPO:0000613) Photophobia 158 / 7739
6
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
7
 (HPO:0006739) Squamous cell carcinoma of the skin 6 / 7739
8
 (HPO:0001048) Cavernous hemangioma 28 / 7739
9
 (HPO:0001009) Telangiectasia 46 / 7739
10
 (HPO:0002671) Basal cell carcinoma 18 / 7739
11
 (HPO:0001029) Poikiloderma 23 / 7739
12
 (HPO:0004334) Dermal atrophy 34 / 7739
13
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
14
 (HPO:0002861) Melanoma 18 / 7739
15
 (MedDRA:10023347) Keratoacanthoma 6 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Early freckle-like lesions in exposed areas 6 / 7739
18
 (OMIM) Increased/decreased skin pigment 5 / 7739
19
 (OMIM) Actinic keratoses 6 / 7739
20
 (OMIM) Early onset skin cancer (basal cell, squamous cell and malignant melanoma) 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: