Details of Disease | DrugMAP

General Information of Disease (ID: DISM8YNM)

Disease Name	Brachydactyly type E
Synonyms	type E brachydactyly
Definition	Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Disease Hierarchy	DIS2533F: Brachydactyly DISM8YNM: Brachydactyly type E
Disease Identifiers	MONDO ID MONDO_0019677 MESH ID C566194 UMLS CUI C4315392 MedGen ID 939359 HPO ID HP:0005863 Orphanet ID 93387

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
HOXD13	OTWSC8TF	Supportive	Autosomal dominant	[1]
PTHLH	OTI1JF13	Supportive	Autosomal dominant	[2]
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References

1	Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet. 2003 Apr;72(4):984-97. doi: 10.1086/374721. Epub 2003 Mar 14.
2	Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet. 2010 Mar 12;86(3):434-9. doi: 10.1016/j.ajhg.2010.01.023. Epub 2010 Feb 18.