ORPHA:252206
Melanoma and neural system tumor syndrome
Synonyms: Melanoma-astrocytoma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Adult, Elderly
- Status
- active
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melanoma and neural system tumor syndrome | Melanoma-astrocytoma syndrome |
| fr | Syndrome mélanome-tumeur du système nerveux | Syndrome mélanome-astrocytome |
| de | Melanom und Tumorsyndrom des Nervensystems | Melanom-Astrozytom-Syndrom |
| es | Síndrome de melanoma-tumor del sistema nervioso | Síndrome melanoma-astrocitoma |
| it | Sindrome melanoma-tumore del sistema nervoso | Sindrome melanoma-astrocitoma |
| nl | Melanoom en tumor van zenuwstelsel-syndroom | Melanoom - astrocytoom-syndroom |
| pt | Síndrome melanoma-tumor do sistema neural | Síndrome melanoma-astrocitoma |
| pl | Zespół czerniaka i guza układu nerwowego | Zespół czerniak-gwiaździak |
| cs | Sydrom zahrnující melanom a nádor nervového systému | Syndrom zahrnující melanom a astrocytom |
| uk | Меланома та синдром пухлин нервової системи | Синдром меланома-астроцитома |
| zh | 黑色素瘤与神经系统肿瘤综合征 | 黑色素瘤-星形细胞瘤综合征 |
| tr | Melanom ve sinir sistemi tümör sendromu | Melanom-astrositom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155755 | E | validated | |
| ICD-10 | D43 | NTBT | attributed | not yet validated |
| MONDO | 0007967 | E | validated | |
| MeSH | C536149 | E | validated | |
| UMLS | C1835042 | E | validated | |
| GARD | 8468 | 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 (2):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN2A | Candidate gene tested in | Not yet assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 11136714[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 8414022[PMID]_8635060[PMID]_37585199[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8414022[PMID]_8635060[PMID]_37585199[PMID]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/252206
- This record as JSON: /data/d/252206.json