Xeroderma pigmentosum complementation group G

General Information (adopted from Orphanet):

Synonyms, Signs: XPG/CS, INCLUDED
XERODERMA PIGMENTOSUM VII
CEREBROOCULOFACIOSKELETAL SYNDROME 3, INCLUDED
XP, GROUP G
COFS3, INCLUDED
XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED
XPG
XPGC
Number of Symptoms 14
OrphanetNr: 276267
OMIM Id: 278780
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
Xeroderma pigmentosum/Cockayne syndrome complex
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare oncologic disease
 -Rare otorhinolaryngologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
2
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
3
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
4
 (HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
5
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
6
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
7
 (HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
8
 (HPO:0001510) Growth delay rare [HPO:skoehler] 295 / 7739
9
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
10
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
11
 (OMIM) No UV-induced skin tumors 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Mild cutaneous changes 1 / 7739
14
 (OMIM) Abnormal sensitivity to UVB wavelengths by radiation monochromator skin testing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).
Clinical Description OMIM Cheesbrough and Kinmont (1978) and Keijzer et al. (1979) reported the first individual with XP complementation group G. She was noted to have facial photosensitive erythema at age 3 months and blistering on exposed skin at 5 months. ...
Genotype-Phenotype Correlations OMIM Some patients with a combined phenotype of xeroderma pigmentosum and Cockayne syndrome fall into complementation group G. Nouspikel et al. (1997) demonstrated that patients with the combined phenotype XPG/CS have mutations that would produce severely truncated XPG proteins. ...
Molecular genetics OMIM Lalle et al. (2002) found that the first 2 patients reported with XPG (Cheesbrough and Kinmont, 1978; Keijzer et al., 1979; Arlett et al., 1980) produced XPG proteins with severely impaired endonuclease activity. Both patients were compound heterozygous ...