Xeroderma pigmentosum complementation group F

General Information (adopted from Orphanet):

Synonyms, Signs: XPF/CS, INCLUDED
XERODERMA PIGMENTOSUM VI
XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED
XP, GROUP F
XPF
Number of Symptoms 31
OrphanetNr: 276264
OMIM Id: 278760
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
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:0000490) Deeply set eye rare [HPO:skoehler] 131 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000483) Astigmatism rare [HPO:skoehler] 67 / 7739
4
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
5
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
6
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
7
 (HPO:0001328) Specific learning disability 114 / 7739
8
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
9
 (HPO:0000726) Dementia rare [HPO:skoehler] 131 / 7739
10
 (HPO:0002311) Incoordination 84 / 7739
11
 (HPO:0002066) Gait ataxia 327 / 7739
12
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
13
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
14
 (HPO:0009473) Joint contracture of the hand 84 / 7739
15
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
16
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
17
 (HPO:0004325) Decreased body weight rare [HPO:skoehler] 492 / 7739
18
 (HPO:0200043) Verrucae 11 / 7739
19
 (HPO:0200034) Papule 12 / 7739
20
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
21
 (HPO:0008069) Neoplasm of the skin rare [HPO:skoehler] 84 / 7739
22
 (HPO:0007587) Numerous pigmented freckles 22 / 7739
23
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
24
 (OMIM) Seborrheic keratosis-like papules 1 / 7739
25
 (HPO:0012444) Brain atrophy rare [HPO:skoehler] 24 / 7739
26
 (OMIM) Hyperpigmentation 24 / 7739
27
 (OMIM) Skin cancer susceptibility 1 / 7739
28
 (OMIM) Rare skin cancers 1 / 7739
29
 (OMIM) Patient cells show defective transcription-coupled and global genome nucleotide excision repair (NER) 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF ...
Clinical Description OMIM Group F xeroderma pigmentosum had probably been observed only in Japan (Fujiwara et al., 1985) until the report by Norris et al. (1988) of a case in an English woman. The patient reported by Norris et al. (1988) ...
Molecular genetics OMIM In the patient with XPF reported by Norris et al. (1988), Sijbers et al. (1996) identified compound heterozygous mutations in the ERCC4 gene (133520.0001 and 133520.0002).

In a patient with XPF and late-onset neurologic features, Sijbers ...