Details of Disease

General Information of Disease (ID: DISZUO15)

Disease Name Brachydactyly type A1
Synonyms Farabee-type brachydactyly; brachydactyly, type A1; brachydactyly Farabee type; BDA1; Farabee type brachydactyly; brachydactyly, Farabee type
Definition Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.
Disease Hierarchy
DIS2533F: Brachydactyly
DISZUO15: Brachydactyly type A1
Disease Identifiers
MONDO ID
MONDO_0007215
MESH ID
C537088
UMLS CUI
C1862151
OMIM ID
112500
MedGen ID
354673
HPO ID
HP:0009371
Orphanet ID
93388
SNOMED CT ID
715720006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SHH TTIENCJ Limited Biomarker [1]
GDF5 TT37XV9 Supportive Autosomal dominant [2]
GDF5 TT37XV9 Strong Biomarker [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HIP1 OT7AKCFQ Limited Genetic Variation [4]
BMPR1B OTGFN0OD Supportive Autosomal dominant [5]
GDF5 OTOV8S81 Supportive Autosomal dominant [2]
IHH OT1DWGXC Definitive Autosomal dominant [6]
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References

1 An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.J Clin Invest. 2005 Apr;115(4):900-9. doi: 10.1172/JCI23675.
2 Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum Mutat. 2010 Oct;31(10):1155-62. doi: 10.1002/humu.21338.
3 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.
4 A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.Nature. 2009 Apr 30;458(7242):1196-200. doi: 10.1038/nature07862. Epub 2009 Mar 1.
5 Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. Eur J Hum Genet. 2015 Dec;23(12):1640-5. doi: 10.1038/ejhg.2015.38. Epub 2015 Mar 11.
6 A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. J Hum Genet. 2006;51(8):727-731. doi: 10.1007/s10038-006-0012-6. Epub 2006 Jul 27.