Details of Disease | DrugMAP

General Information of Disease (ID: DIS6VMTJ)

Disease Name	Distal arthrogryposis type 2B1
Synonyms	arthrogryposis, distal, type 2B1; DA2B1
Disease Hierarchy	DISOCVMC: Sheldon-hall syndrome DIS3HIWD: Autosomal dominant disease DIS6VMTJ: Distal arthrogryposis type 2B1
Disease Identifiers	MONDO ID MONDO_0020820 UMLS CUI C5193014 OMIM ID 601680 MedGen ID 1676961

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH3	OTOCCGEB	Strong	Autosomal dominant	[1]
TNNI2	OTGGZFSC	Strong	Autosomal dominant	[2]
TNNT3	OT4C498E	Strong	Autosomal dominant	[3]
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References

1	Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 Apr 16.
2	Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294.
3	Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 2003 Jul;73(1):212-4. doi: 10.1086/376418.