Details of Disease | DrugMAP

General Information of Disease (ID: DISBVI4Y)

Disease Name	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Synonyms	DA8; arthrogryposis, distal, type 8; pterygium syndrome, multiple, autosomal dominant; distal arthrogryposis type 8; multiple pterygium syndrome, autosomal dominant; contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
Disease Hierarchy	DIS3QIEL: Distal arthrogryposis DISK8Z6W: Multiple pterygium syndrome DIS6GI3N: Contractures, pterygia, and variable skeletal fusions syndrome DIS3HIWD: Autosomal dominant disease DISBVI4Y: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Disease Identifiers	MONDO ID MONDO_0008338 UMLS CUI C1867440 OMIM ID 178110 MedGen ID 401232 Orphanet ID 65743 SNOMED CT ID 771269000

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
MYH3	OTOCCGEB	Supportive	Autosomal dominant	[1]
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References

1	Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.