Details of Disease | DrugMAP

General Information of Disease (ID: DIS9OECG)

Disease Name	Oculocerebrodental syndrome
Synonyms	Cataracts, Early-Onset, With Skeletal and Dental Anomalies; oculoskeletodental syndrome; OCSKD
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS10G4I: Ciliopathy DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS9OECG: Oculocerebrodental syndrome
Disease Identifiers	MONDO ID MONDO_0034145 UMLS CUI C5193101 OMIM ID 618440 MedGen ID 1674537 SNOMED CT ID 1255268002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3C2A	OTFBU4GD	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.