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cerebral palsy, spastic quadriplegic, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebral palsy, spastic quadriplegic, 2

MONDO:0013033

Also known as:KANK1 spastic quadriplegiacerebral palsy, spastic quadriplegic, type 2spastic quadriplegia caused by mutation in KANK1

Overview

Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.

GeneticsAutosomal dominant · KANK1 (chr 9)

OnsetCONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Spastic tetraplegia, Brain shrinkage (cerebral atrophy), Nystagmus, and Low muscle tone (hypotonia) and 3 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Spastic tetraplegia, Brain shrinkage (cerebral atrophy), Cerebral palsy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KANK1 encodes KN motif and ankyrin repeat domains 1 (1,352 aa). Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis. Highest expression in Artery Aorta (118.3 TPM) and Artery Tibial (75.6 TPM).

Cerebral palsy, spastic quadriplegic, 2 is associated with mutations in the KANK1 gene on chromosome 9.

The KANK1 protein participates in KANK1(1-899)-PDGFRB(415-1106) fusion, p-12Y-KANK1(1-899)-PDGFRB(415-1106) fusion, and Signaling by membrane-tethered fusions of PDGFRA or PDGFRB pathways.

KANK1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KANK1 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cerebral palsy, spastic quadriplegic, 2.

19 publications have been identified in PubMed for cerebral palsy, spastic quadriplegic, 2. Research spans Case Report / Case Series (47%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	9	47%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612900

GARD

Genetic and Rare Diseases Info Center

GARD:18309

Questions for Your Care Team

→Should I pursue genetic testing for KANK1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

cerebral palsy, spastic quadriplegic, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cerebral palsy, spastic quadriplegic, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications