Details of Disease

General Information of Disease (ID: DISG8OS2)

Disease Name Brachydactyly type A1C
Synonyms brachydactyly, type A1, C; brachydactyly type A1 caused by mutation in GDF5; GDF5 brachydactyly type A1; BDA1C
Definition Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
Disease Hierarchy
DIS2533F: Brachydactyly
DISG8OS2: Brachydactyly type A1C
Disease Identifiers
MONDO ID
MONDO_0014032
UMLS CUI
C3554446
OMIM ID
615072
MedGen ID
767360

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 Strong Autosomal dominant [1]
GDF5 TT37XV9 Definitive Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GDF5 OTOV8S81 Strong Autosomal dominant [1]
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References

1 The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002 Oct 15;112(3):291-6. doi: 10.1002/ajmg.10777.
2 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3.