Details of Disease

General Information of Disease (ID: DISKE9JR)

Disease Name Acrocephalopolysyndactyly
Synonyms ACPS
Definition A common presentation of craniosynostosis and polysyndactyly.
Disease Hierarchy
DISFIB1L: Acrocephalosyndactyly
DISKE9JR: Acrocephalopolysyndactyly
Disease Identifiers
MONDO ID
MONDO_0000078
UMLS CUI
C0687154
MedGen ID
673840
SNOMED CT ID
205260006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAB18 OTNMAQLS moderate Biomarker [1]
TBC1D20 OTDL1T6E Strong Biomarker [2]
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References

1 ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.Exp Neurol. 2015 May;267:143-51. doi: 10.1016/j.expneurol.2015.03.003. Epub 2015 Mar 13.
2 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.