PTOSIS, HEREDITARY CONGENITAL 1
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
PTOS1
|
|
Number of Symptoms
|
1
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
178300
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0007970)
|
Congenital ptosis |
|
|
|
|
7 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |
Additional Information:
|
Description:
(OMIM)
|
Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.
See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis.
|