Details of Disease

General Information of Disease (ID: DISFIB1L)

Disease Name Acrocephalosyndactyly
Synonyms acrocephalosyndactylia; ACS; acrocephalosyndactyly
Definition
Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.
Disease Hierarchy
DIS3LICD: Congenital limb malformation
DISEUVBK: Syndromic craniosynostosis
DISFIB1L: Acrocephalosyndactyly
Disease Identifiers
MONDO ID
MONDO_0019796
MESH ID
D000168
UMLS CUI
C1510455
MedGen ID
267602
SNOMED CT ID
268262006

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
FGFR2 TTGJVQM Disputed GermlineCausalMutation [1]
TWIST1 TTX1MY7 Strong Biomarker [2]
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References

1 Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.PLoS One. 2013 Apr 4;8(4):e60439. doi: 10.1371/journal.pone.0060439. Print 2013.
2 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27.