ORPHA:211
Familial cylindromatosis
Synonyms: Turban tumor syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
This disease is described under Brooke-Spiegler syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cylindromatosis | Turban tumor syndrome |
| fr | Cylindromatose familiale | Syndrome de tumeur en turban |
| de | Zylindromatose, familiäre | Turban-Tumor-Syndrom |
| es | Cilindromatosis de Poncet-Spiegler | |
| it | Cilindromatosi familiare | Sindrome del tumore a turbante |
| nl | Familiale cylindromatose | Turbantumor-syndroom · Turbantumorsyndroom |
| pt | Cilindromatose familiar | Síndrome tumor Turban |
| pl | Cylindromatoza rodzinna | Zespół guzów turbanowych |
| cs | Familiární cylindromatóza | Syndrom turbanovitých tumorů |
| uk | Сімейний циліндроматоз | Синдром пухлини тюрбану |
| zh | 家族性圆柱瘤病 | 头巾状瘤综合征 |
| tr | Ailesel silindromatoz | Türban tümör sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 132700 | E | validated | |
| ICD-10 | D23.4 | NTBT | attributed | validated |
| ICD-10 | D23.5 | NTBT | attributed | validated |
| ICD-11 | 2F22 | NTBT | attributed | validated |
| MONDO | 0007565 | E | validated | |
| MeSH | C536611 | E | validated | |
| UMLS | C1851526 | 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
0 recordsNo prevalence record in this release.
6
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001482 | Subcutaneous nodule | |
| HP:0100585 | Telangiectasia of the skin | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/211
- This record as JSON: /data/d/211.json