Xeroderma pigmentosum complementation group B

General Information (adopted from Orphanet):

Synonyms, Signs: XPB/CS, INCLUDED
XP, GROUP B
XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED
XPB
Number of Symptoms 32
OrphanetNr: 276252
OMIM Id: 610651
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:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
5
 (HPO:0000518) Cataract 454 / 7739
6
 (HPO:0000648) Optic atrophy 238 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
12
 (HPO:0002135) Basal ganglia calcification 37 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0002671) Basal cell carcinoma 18 / 7739
15
 (HPO:0012056) Cutaneous melanoma 10 / 7739
16
 (HPO:0001480) Freckling 13 / 7739
17
 (HPO:0004334) Dermal atrophy 34 / 7739
18
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
19
 (HPO:0006739) Squamous cell carcinoma of the skin 6 / 7739
20
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
21
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
22
 (HPO:0005328) Progeroid facial appearance 13 / 7739
23
 (HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
24
 (HPO:0002861) Melanoma 18 / 7739
25
 (OMIM) Decreased DNA excision repair 1 / 7739
26
 (HPO:0001272) Cerebellar atrophy 197 / 7739
27
 (HPO:0002119) Ventriculomegaly 253 / 7739
28
 (HPO:0012447) Abnormal myelination 7 / 7739
29
 (OMIM) Increased risk of malignancy 3 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0011400) Abnormal CNS myelination 10 / 7739
32
 (OMIM) Cachectic appearance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400).

Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.
Clinical Description OMIM Lehmann (1982) performed cell fusion studies on cultured cells from 11 patients with Cockayne syndrome. The 11 cell lines were assigned to 3 complementation groups: 2 to group A, 8 to group B, and 1 to group C. ...
Genotype-Phenotype Correlations OMIM Oh et al. (2006) observed a more severe XPB/Cockayne syndrome phenotype in patients with nonsense mutations in the ERCC3 gene on both alleles compared to those with a partially active missense mutation in the ERCC3 gene on at ...
Molecular genetics OMIM In a patient with XPB/Cockayne syndrome reported by Robbins et al. (1974), Weeda et al. (1990) identified a heterozygous mutation in the ERCC3 gene (133510.0001). Oh et al. (2006) identified a second pathogenic ERCC3 mutation (133510.0005) in this ...