ORPHA:841
Sebocystomatosis
Synonyms: Steatocystoma multiplex
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sebocystomatosis | Steatocystoma multiplex |
| fr | Sébocystomatose | |
| de | Sebozystomatose | = en |
| es | Sebocistomatosis | Esteatocistoma múltiple |
| it | Sebocistomatosi | Steatocistoma multiplo |
| nl | Sebocystomatose | = en |
| pt | Sebocistomatose | |
| pl | Torbielowatość gruczołów łojowych | Mnogie torbiele łojowe |
| cs | Sebocystomatóza | = en |
| uk | Себоцистоматоз | Стеатоцистома множинна |
| zh | 皮脂囊肿病 | 多发性皮脂囊肿 |
| tr | Sebokistomot | Steatocystoma multipleks |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184500 | E | validated | |
| ICD-10 | L72.2 | E | specific | validated |
| ICD-11 | 2F22 | NTBT | index | validated |
| MONDO | 0008485 | E | validated | |
| MeSH | D062685 | E | validated | |
| UMLS | C0259771 | E | validated | |
| GARD | 5003 | E | validated | |
| MedDRA | 10048905 | 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:183460Genetic sebaceous gland anomaly
rare genetic diseases - ORPHA:79372Sebaceous gland anomaly
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT17 | Disease-causing germline mutation(s) in | Assessed | HGNC:6427 | ENSG00000128422 | 148069 | 17q21.2 | keratin 17 | 26165312[PMID] |
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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.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009720 | Adenoma sebaceum | |
| HP:0012035 | Steatocystoma multiplex | |
| Occasional (29-5%) | ||
| HP:0000787 | Nephrolithiasis | |
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/841
- This record as JSON: /data/d/841.json