Details of Disease

General Information of Disease (ID: DISR95WN)

Disease Name Brachydactyly-syndactyly syndrome
Synonyms BDSD; brachydactyly-syndactyly, Zhao type; brachydactyly-syndactyly-oligodactyly syndrome; Bdsd; brachydactyly-syndactyly syndrome
Definition
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Disease Hierarchy
DISNSX3G: Autosomal genetic disease
DIS5PU87: Skeletal system disorder
DISR95WN: Brachydactyly-syndactyly syndrome
Disease Identifiers
MONDO ID
MONDO_0012544
UMLS CUI
C1853137
OMIM ID
610713
MedGen ID
377836
Orphanet ID
93409

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
MBOAT1 OT4XR6TE Limited Genetic Variation [1]
HOXD13 OTWSC8TF Definitive Autosomal dominant [2]
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References

1 A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.Eur J Hum Genet. 2007 Jul;15(7):743-51. doi: 10.1038/sj.ejhg.5201833. Epub 2007 Apr 18.
2 An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet A. 2003 Aug 15;121A(1):69-74. doi: 10.1002/ajmg.a.20103.