Details of Disease

General Information of Disease (ID: DIS3IXR5)

Disease Name Mesoaxial synostotic syndactyly with phalangeal reduction
Synonyms
syndactyly, mesoaxial synostotic, with phalangeal reduction; syndactyly, type 9; syndactyly Malik-Percin type; syndactyly mesoaxial synostotic with phalangeal reduction; MSSD; syndactyly, Malik-Percin type; syndactyly type 9
Definition
Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISDSSO2: Non-syndromic syndactyly
DIS3IXR5: Mesoaxial synostotic syndactyly with phalangeal reduction
Disease Identifiers
MONDO ID
MONDO_0012271
MESH ID
C563721
UMLS CUI
C1836206
OMIM ID
609432
MedGen ID
324459
Orphanet ID
157801
SNOMED CT ID
724170007

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
BHLHA9 OT80XOJB Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.