Details of Disease | DrugMAP

General Information of Disease (ID: DISEV6XS)

Disease Name	Ptosis, hereditary congenital, 1
Synonyms	ptosis, hereditary congenital 1; PTOS1; congenital eyelid ptosis; ptosis, congenital; congenital ptosis (disease); congenital ptosis; ptosis, hereditary congenital, 1
Definition	Congenital ptosis is characterized by superior eyelid drop present at birth.
Disease Hierarchy	DISYKSRF: Genetic disease DISJZNIY: Ptosis DISEV6XS: Ptosis, hereditary congenital, 1
Disease Identifiers	MONDO ID MONDO_0008340 MESH ID C566737 UMLS CUI C1867438 OMIM ID 178300 MedGen ID 357987 Orphanet ID 91411

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZFHX4	OT7USMR4	No Known	Autosomal dominant	[1]
COL25A1	OT7M23Z9	Supportive	Autosomal dominant	[2]
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References

1	A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. Hum Genet. 2002 Mar;110(3):244-50. doi: 10.1007/s00439-002-0679-5. Epub 2002 Feb 1.
2	Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. J AAPOS. 2015 Oct;19(5):463-5. doi: 10.1016/j.jaapos.2015.04.011.