ORPHA:701
Alopecia universalis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alopecia universalis | |
| fr | Pelade universelle | |
| de | Alopecia universalis | |
| es | Alopecia universal | |
| it | Alopecia universale | |
| nl | Alopecia universalis | |
| pt | Alopecia universalis | |
| pl | Utrata włosów na całym ciele | |
| cs | Alopecia universalis | |
| uk | Універсальна алопеція | |
| zh | 全身毛发脱失 | |
| tr | Alopesi universalis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104000 | NTBT | validated | |
| OMIM | 203655 | BTNT | validated | |
| OMIM | 610753 | BTNT | validated | |
| ICD-10 | L63.1 | E | specific | validated |
| ICD-11 | ED70.2Y | NTBT | index | validated |
| MeSH | C537055 | E | validated | |
| UMLS | C0263505 | E | validated | |
| GARD | 614 | E | validated | |
| MedDRA | 10001767 | 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 (2):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HR | Disease-causing germline mutation(s) in | Assessed | HGNC:5172 | ENSG00000168453 | 602302 | 8p21.3 | HR lysine demethylase and nuclear receptor corepressor | 9445480[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2006[OTHER] |
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
13 annotations · validated 2023-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0002289 | Alopecia universalis | |
| HP:0002232 | Patchy alopecia | |
| Occasional (29-5%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0001047 | Atopic dermatitis | |
| HP:0002960 | Autoimmunity | |
| HP:0000822 | Hypertension | |
| Very rare (<4-1%) | ||
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0001045 | Vitiligo | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27608049[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/701
- This record as JSON: /data/d/701.json