Xeroderma pigmentosum/Cockayne syndrome complex

General Information (adopted from Orphanet):

Synonyms, Signs: XP/CS complex
Number of Symptoms 34
OrphanetNr: 220295
OMIM Id: 278730
278760
278780
610651
ICD-10: Q82.1
Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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
Genetic neurodegenerative disease
 -Rare genetic disease
Genetic photodermatosis
 -Rare genetic disease
Genetic progeroid syndrome
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Premature aging
 -Rare genetic disease
 -Rare skin disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare neurodegenerative disease
 -Rare neurologic disease
Rare photodermatosis
 -Rare skin disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic retinitis pigmentosa
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000656) Ectropion 25 / 7739
2
 (HPO:0000621) Entropion 12 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000613) Photophobia 158 / 7739
5
 (HPO:0000491) Keratitis 21 / 7739
6
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
7
 (HPO:0000509) Conjunctivitis 47 / 7739
8
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
11
 (HPO:0001266) Choreoathetosis 57 / 7739
12
 (HPO:0001268) Mental deterioration 88 / 7739
13
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
16
 (HPO:0001265) Hyporeflexia 208 / 7739
17
 (HPO:0001251) Ataxia 413 / 7739
18
 (HPO:0001257) Spasticity 251 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
21
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
22
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
23
 (HPO:0001029) Poikiloderma Very frequent [Orphanet] 23 / 7739
24
 (HPO:0001009) Telangiectasia 46 / 7739
25
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
26
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
27
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
28
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
29
 (HPO:0004334) Dermal atrophy 34 / 7739
30
 (HPO:0002621) Atherosclerosis Very frequent [Orphanet] 33 / 7739
31
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
32
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: