Hereditary hypotrichosis with recurrent skin vesicles
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary hypotrichosis with recurrent skin vesicles | |
| fr | Hypotrichose héréditaire à vésicules cutanées récidivantes | Hypotrichose héréditaire à vésicules cutanées récurrentes |
| de | Hereditäre Hypotrichose mit rezidivierenden Hautbläschen | |
| es | Hipotricosis hereditaria con vesículas cutáneas recurrentes | |
| it | Ipotricosi ereditaria con vescicole cutanee ricorrenti | |
| nl | Hereditaire hypotrichose met recidiverende huidblaasjes | |
| pt | Hipotricose hereditária com vesículas cutâneas recorrentes | |
| pl | Dziedziczna hipotrichoza z nawracającymi pęcherzami skóry | |
| cs | Hereditární hypotrichóza s rekurentními kožními puchýřky | |
| uk | Спадковий гіпотрихоз з рецидивуючими шкірними пухирцями | |
| zh | 遗传性稀毛症伴复发性皮肤水疱 | |
| tr | Tekrarlayan cilt vezikülleri ile seyreden kalıtsal hipotrikoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613102 | E | validated | |
| ICD-10 | Q84.2 | NTBT | attributed | validated |
| ICD-11 | EC21.2 | NTBT | attributed | validated |
| MONDO | 0013136 | E | validated | |
| MeSH | C567751 | E | validated | |
| UMLS | C2751292 | 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 (2):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3037 | ENSG00000134762 | 600271 | 18q12.1 | desmocollin 3 | 19765682[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19765682[PMID] |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19765682[PMID] |
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/217407
- This record as JSON: /data/d/217407.json