KYRLE DISEASE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
149500
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0007787) | Posterior subcapsular cataract | 20 / 7739 | ||||
|
|
(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
|
|
(OMIM) | Posterior subcapsular cataracts in some cases | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(MedDRA:10023369) | Keratosis follicular | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|