Details of Disease

General Information of Disease (ID: DISC4MN5)

Disease Name Symphalangism, proximal, 1B
Synonyms SYM1B; symphalangism, proximal, type 1B; symphalangism, proximal, 1B; proximal symphalangism (disease) caused by mutation in GDF5; GDF5 proximal symphalangism (disease)
Definition Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.
Disease Hierarchy
DISK9LH5: Proximal symphalangism
DISC4MN5: Symphalangism, proximal, 1B
Disease Identifiers
MONDO ID
MONDO_0014125
UMLS CUI
C3809104
OMIM ID
615298
MedGen ID
815434

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GDF5 TT37XV9 Limited Genetic Variation [1]
GDF5 TT37XV9 Strong Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GDF5 OTOV8S81 Strong Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. J Hum Genet. 2008;53(4):368-374. doi: 10.1007/s10038-008-0253-7. Epub 2008 Feb 19.
2 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005 Sep;115(9):2373-81. doi: 10.1172/JCI25118. Epub 2005 Aug 25.