Details of Disease

General Information of Disease (ID: DISFSPO5)

Disease Name Cerebral palsy, spastic quadriplegic, 3
Synonyms
cerebral palsy, spastic quadriplegic, type 3; cerebral palsy, spastic quadriplegic, 3; CPSQ3; spastic quadriplegia caused by mutation in ADD3; ADD3 spastic quadriplegia; cerebral palsy, spastic quadriplegic, 3; CPSQ3
Definition Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.
Disease Hierarchy
DISBJRHC: Spastic quadriplegic cerebral palsy
DIS09FBL: Complex neurodevelopmental disorder with motor features
DISYOKTG: Mendelian neurodevelopmental disorder
DISFSPO5: Cerebral palsy, spastic quadriplegic, 3
Disease Identifiers
MONDO ID
MONDO_0014862
UMLS CUI
C4310767
OMIM ID
617008
MedGen ID
934734

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
ADD3 OTDRSHAZ Strong Autosomal recessive [1]
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References

1 Mutations in adducin are associated with inherited cerebral palsy. Ann Neurol. 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971.