Alopecia universalis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 5 |
| OrphanetNr: | 701 |
| OMIM Id: |
104000
203655 610753 |
| ICD-10: |
L63.1 |
| UMLs: |
C0263505 |
| MeSH: |
C537055 |
| MedDRA: |
10001767 |
| Snomed: |
86166000 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 25 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alopecia
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|