Details of Disease | DrugMAP

General Information of Disease (ID: DISUB1OU)

Disease Name	Brachydactyly type A2
Synonyms	Brachymesophalangy type 2; Brachymesophalangy 2; brachydactyly, type A2; Mohr-Wriedt type brachydactyly; BDA2; brachymesophalangy II; brachydactyly, Mohr-Wriedt type
Definition	Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS2533F: Brachydactyly DISUB1OU: Brachydactyly type A2
Disease Identifiers	MONDO ID MONDO_0007216 MESH ID C537089 UMLS CUI C1832702 OMIM ID 112600 MedGen ID 318690 HPO ID HP:0009372 SNOMED CT ID 720569006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP2	TTP3IGX	Supportive	Autosomal dominant	[1]
GDF5	TT37XV9	Supportive	Autosomal dominant	[2]
BMP2	TTP3IGX	Strong	Genetic Variation	[3]
GDF5	TT37XV9	Definitive	Genetic Variation	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMP2	OT23T37S	Supportive	Autosomal dominant	[1]
GDF5	OTOV8S81	Supportive	Autosomal dominant	[2]
BMPR1B	OTGFN0OD	Definitive	Autosomal recessive	[5]
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References

1	Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26.
2	A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. J Med Genet. 2006 Mar;43(3):225-31. doi: 10.1136/jmg.2005.034058. Epub 2005 Jul 13.
3	A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).Gene. 2018 Feb 5;642:110-115. doi: 10.1016/j.gene.2017.11.024. Epub 2017 Nov 10.
4	New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.J Bone Miner Res. 2012 Feb;27(2):429-42. doi: 10.1002/jbmr.532.
5	Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1.