ORPHA:90342
Xeroderma pigmentosum variant
Synonyms: XPV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xeroderma pigmentosum variant | XPV |
| fr | Variant du xeroderma pigmentosum | = en |
| de | Xeroderma pigmentosum Variante (XPV) | |
| es | Xeroderma pigmentoso tipo variante | = en |
| it | Xeroderma pigmentoso variante (XPV) | |
| nl | Xeroderma pigmentosum, variante vorm | = en |
| pt | Variante de xeroderma pigmentoso | = en |
| pl | Wariant skóry pergaminowej | = en |
| cs | Xeroderma pigmentosum - variant | = en |
| uk | Варіант пігментної ксеродермії | = en |
| zh | 着色性干皮病变异型 | = en |
| tr | Kseroderma pigmentosum varyantı | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278750 | E | validated | |
| ICD-10 | Q82.1 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0010214 | E | validated | |
| MeSH | C536766 | E | validated | |
| UMLS | C1848410 | E | validated | |
| GARD | 5630 | 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 (9):
- 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: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:522530Rare genetic disorder with entropion
rare genetic diseases - ORPHA:79390Rare photodermatosis
rare skin diseases - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLH | Disease-causing germline mutation(s) in | Assessed | HGNC:9181 | ENSG00000170734 | 603968 | 6p21.1 | DNA polymerase eta | 24130121[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0007603 | Freckles in sun-exposed areas | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001029 | Poikiloderma | |
| Frequent (79-30%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0004334 | Dermal atrophy | |
| HP:0000958 | Dry skin | |
| HP:0000491 | Keratitis | |
| HP:0002861 | Melanoma | |
| HP:0000613 | Photophobia | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0001009 | Telangiectasia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 22044607[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90342
- This record as JSON: /data/d/90342.json