Details of Disease | DrugMAP

General Information of Disease (ID: DISHMSY8)

Disease Name	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Synonyms	ACCIID; ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Disease Hierarchy	DISYKSRF: Genetic disease DISHMSY8: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Disease Identifiers	MONDO ID MONDO_0032642 UMLS CUI C4748872 OMIM ID 618265 MedGen ID 1648372 Orphanet ID 565858

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
PPP3CA	TTA4LDE	Strong	Autosomal dominant	[1]
PPP3CA	TTA4LDE	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PPP3CA	OT58PUEN	Strong	Autosomal dominant	[1]
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References

1	De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21.
2	Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.