Details of Disease

General Information of Disease (ID: DISZ2Y71)

Disease Name Trismus-pseudocamptodactyly syndrome
Synonyms
arthrogryposis, distal, type 7; DA7; arthrogryposis distal type 7; mouth, inability to open completely, and short finger-flexor tendons; distal arthrogryposis type 7; Dutch-Kentucky syndrome; trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Hecht syndrome
Disease Hierarchy
DIS3QIEL: Distal arthrogryposis
DISZ2Y71: Trismus-pseudocamptodactyly syndrome
Disease Identifiers
MONDO ID
MONDO_0008016
MESH ID
C535857
UMLS CUI
C0265226
OMIM ID
158300
MedGen ID
78540
Orphanet ID
3377
SNOMED CT ID
8757006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNNI2 OTGGZFSC moderate Biomarker [1]
MYH8 OT9F350W Strong Autosomal dominant [2]
FBN2 OT3KYJQL Definitive Biomarker [3]
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References

1 A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.PLoS Genet. 2014 Oct 23;10(10):e1004589. doi: 10.1371/journal.pgen.1004589. eCollection 2014 Oct.
2 Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A. 2006 Nov 15;140(22):2387-93. doi: 10.1002/ajmg.a.31495.
3 ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.PLoS One. 2010 Feb 9;5(2):e9137. doi: 10.1371/journal.pone.0009137.