ORPHA:867
Familial multiple trichoepithelioma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
This disease is described under Brooke-Spiegler syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial multiple trichoepithelioma | |
| fr | Trichoépithéliome multiple familial | |
| de | Trichoepitheliom, familiäres multiples | |
| es | Tricoepitelioma múltiple familiar | |
| it | Tricoepitelioma multiplo familiare | |
| nl | Familiaal meervoudig tricho-epithelioom | |
| pt | Tricoepitelioma múltiplo familiar | |
| pl | Rodzinne mnogie nabłoniaki włosowe | |
| cs | Familiární mnohočetný trichoepiteliom | |
| uk | Сімейна множинна трихоепітеліома | |
| zh | 多发性家族性毛发上皮瘤 | |
| tr | Ailesel çoklu trikoepitelyoma |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601606 | E | validated | |
| OMIM | 612099 | BTNT | validated | |
| ICD-10 | D23.3 | NTBT | attributed | validated |
| ICD-10 | D23.4 | NTBT | attributed | validated |
| ICD-10 | D23.5 | NTBT | attributed | validated |
| ICD-11 | 2F22 | NTBT | index | validated |
| MONDO | 0011114 | E | validated | |
| UMLS | C1275122 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79493Brooke-Spiegler syndrome
rare genetic diseases; rare skin diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYLD | Disease-causing germline mutation(s) in | Assessed | HGNC:2584 | ENSG00000083799 | 605018 | 16q12.1 | CYLD lysine 63 deubiquitinase | 19462465[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200034 | Papule | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0100585 | Telangiectasia of the skin | |
| Occasional (29-5%) | ||
| HP:0002671 | Basal cell carcinoma | |
Run the differential on the 2 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/867
- This record as JSON: /data/d/867.json