Details of Disease

General Information of Disease (ID: DIS6CYYN)

Disease Name Brachydactyly type B2
Synonyms brachydactyly, type B2; BDB2
Definition
Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Disease Hierarchy
DISOPY31: Brachydactyly type B
DISEOUIO: NOG-related symphalangism spectrum disorder
DIS6CYYN: Brachydactyly type B2
Disease Identifiers
MONDO ID
MONDO_0012658
UMLS CUI
C1969652
OMIM ID
611377
MedGen ID
409880
Orphanet ID
140908
SNOMED CT ID
770406002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ROR2 TTUDPCI Limited Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NOG OTGRHHPG Supportive Autosomal dominant [2]
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References

1 A Novel Role for the BMP Antagonist Noggin in Sensitizing Cells to Non-canonical Wnt-5a/Ror2/Disheveled Pathway Activation.Front Cell Dev Biol. 2017 May 4;5:47. doi: 10.3389/fcell.2017.00047. eCollection 2017.
2 A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007 Aug;81(2):388-96. doi: 10.1086/519697. Epub 2007 Jun 8.