MITF-related melanoma and renal cell carcinoma predisposition syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MITF-related melanoma and renal cell carcinoma predisposition syndrome | |
| fr | Syndrome de prédisposition au carcinome rénal et mélanome associé à MITF | |
| de | MITF-assoziiertes Melanom und Nierenzellkarzinom-Prädispositionssyndrom | |
| es | Síndrome de predisposición al carcinoma de células renales y melanoma asociado a MITF | |
| it | Sindrome da predisposizione al carcinoma delle cellule renali e al melanoma associata a MITF | |
| nl | MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom | |
| pt | Síndrome de predisposição para carcinoma de células renais e melanoma MITF-relacionado | |
| pl | Zespół predyspozycji do czerniaka i raka nerkowokomórkowego zwiazany z MITF | |
| cs | Syndrom predispozice k MITF-vázanému melanomu a k světlobuněčnému karcinomu ledviny | |
| uk | Синдром схильності до меланоми та нирковоклітинної карциноми, повязаний з MITF | |
| zh | MITF基因相关黑色素瘤和肾细胞癌易感综合征 | |
| tr | MITF-ilişkili melanom ve renal hücreli karsinom yatkınlık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614456 | E | validated | |
| ICD-10 | C43.9 | NTBT | attributed | validated |
| MONDO | 0013759 | E | validated | |
| UMLS | C4749577 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MITF | Major susceptibility factor in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 22480646[PMID]_22012259[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293822
- This record as JSON: /data/d/293822.json