ORPHA:220295
Xeroderma pigmentosum-Cockayne syndrome complex
Synonyms: XP/CS complex
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xeroderma pigmentosum-Cockayne syndrome complex | XP/CS complex |
| fr | Complexe Xeroderma pigmentosum-syndrome de Cockayne | Complexe XP/CS |
| de | Xeroderma pigmentosum/Cockayne-Syndrom-Komplex | XP/CS |
| es | Complejo xeroderma pigmentoso/síndrome de Cockayne | Complejo XP/CS |
| it | Complesso xeroderma pigmentoso-sindrome di Cockayne | Complesso XP/CS |
| nl | Xeroderma pigmentosum - syndroom van Cockayne-complex | XP/CS-complex |
| pt | Complexo xeroderma pigmentoso/síndrome Cockayne | |
| pl | Kompleks skóra pergaminowa/zespół Cockayne'a | XP/CS kompleks |
| cs | Komplex zahrnující xeroderma pigmentosum a Cockayneův syndrom | XP/CS komplex |
| uk | Комплекс пігментна ксеродермія - синдром Коккена | Комплекс XP/CS |
| zh | 着色性干皮病-Cockayne综合征 | 着色性干皮病/Cockayne综合征 |
| tr | Kseroderma pigmentosum-Cockayne sendrom kompleksi | XP/CS kompleksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278730 | BTNT | validated | |
| OMIM | 278760 | BTNT | validated | |
| OMIM | 278780 | BTNT | validated | |
| OMIM | 610651 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0016354 | E | validated | |
| UMLS | C4304411 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (14):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:519270Rare disorder with entropion
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:522530Rare genetic disorder with entropion
rare genetic diseases - ORPHA:79390Rare photodermatosis
rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2837Pellagra-like skin rash-neurological manifestations syndrome moved to · inactive
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3434 | ENSG00000104884 | 126340 | 19q13.32 | ERCC excision repair 2, TFIIH core complex helicase subunit | 20301571[PMID] |
| ERCC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3435 | ENSG00000163161 | 133510 | 2q14.3 | ERCC excision repair 3, TFIIH core complex helicase subunit | 20301571[PMID] |
| ERCC4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3436 | ENSG00000175595 | 133520 | 16p13.12 | ERCC excision repair 4, endonuclease catalytic subunit | 20301571[PMID] |
| ERCC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3437 | ENSG00000134899 | 133530 | 13q33.1 | ERCC excision repair 5, endonuclease | 20301571[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004337 | Abnormality of amino acid metabolism | |
| HP:0002634 | Arteriosclerosis | |
| HP:0001251 | Ataxia | |
| HP:0004326 | Cachexia | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0004334 | Dermal atrophy | |
| HP:0000958 | Dry skin | |
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0007587 | Numerous pigmented freckles | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001029 | Poikiloderma | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0000488 | Retinopathy | |
| HP:0004322 | Short stature | |
| HP:0000988 | Skin rash | |
| HP:0001257 | Spasticity | |
| HP:0001025 | Urticaria | |
| Frequent (79-30%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0001289 | Confusion | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001263 | Global developmental delay | |
| HP:0002861 | Melanoma | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220295
- This record as JSON: /data/d/220295.json