Details of Disease | DrugMAP

General Information of Disease (ID: DISI0CRA)

Disease Name	GAPO syndrome
Synonyms	Growth retardation, alopecia, pseudoanodontia, and optic atrophy; Growth retardation, alopecia, pseudoanodontia and optic atrophy; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome; gapo syndrome
Definition	A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations
Disease Hierarchy	DISLRS4M: Ectodermal dysplasia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISI0CRA: GAPO syndrome
Disease Identifiers	MONDO ID MONDO_0009263 MESH ID C535642 UMLS CUI C0406723 OMIM ID 230740 MedGen ID 98034 Orphanet ID 2067 SNOMED CT ID 721843003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANTXR1	OT5W1GPC	Definitive	Autosomal recessive	[1]
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References

1	Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18.