Details of Disease

General Information of Disease (ID: DISPIXK5)

Disease Name Cerebral palsy, spastic quadriplegic, 2
Synonyms CPSQ2; cerebral palsy, spastic quadriplegic, 2; cerebral palsy, spastic quadriplegic, type 2; spastic quadriplegia caused by mutation in KANK1; KANK1 spastic quadriplegia
Definition Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.
Disease Hierarchy
DISBJRHC: Spastic quadriplegic cerebral palsy
DISYOKTG: Mendelian neurodevelopmental disorder
DISPIXK5: Cerebral palsy, spastic quadriplegic, 2
Disease Identifiers
MONDO ID
MONDO_0013033
MESH ID
C567867
UMLS CUI
C2752061
OMIM ID
612900
MedGen ID
442880

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
KANK1 OT2E7A6W Limited Autosomal dominant inheritance with maternal imprinting HP:0012275 [1]
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References

1 Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum Mol Genet. 2005 Dec 15;14(24):3911-20. doi: 10.1093/hmg/ddi415. Epub 2005 Nov 21.