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hereditary spastic paraplegia 43 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 43

MONDO:0014024

Also known as:C19orf12 autosomal recessive complex spastic paraplegiaSPG43autosomal recessive complex spastic paraplegia caused by mutation in C19orf12

Overview

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

GeneticsAutosomal recessive · C19ORF12 (chr 19)

OnsetJUVENILE, ADULT

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 always present findings: Difficulty walking (gait disturbance), Peripheral neuropathy, Loss of ambulation, and Muscle weakness and others; and common findings: Hyporeflexia, Distal amyotrophy, Distal sensory impairment, and Damage to the optic nerve (optic atrophy). 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Hyporeflexia, Difficulty walking (gait disturbance), Babinski sign

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.

C19ORF12 encodes chromosome 19 open reading frame 12 (141 aa). Highest expression in Adipose Subcutaneous (33.0 TPM) and Adipose Visceral Omentum (26.3 TPM).

Hereditary spastic paraplegia 43 is associated with mutations in the C19ORF12 gene on chromosome 19.

C19ORF12 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for C19ORF12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 43 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hereditary spastic paraplegia 43.

18 publications have been identified in PubMed for hereditary spastic paraplegia 43. Research spans Case Report / Case Series (39%), Diagnostic / Biomarker (22%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	7	39%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615043

Orphanet

European rare disease database

Orphanet:320370

GARD

Genetic and Rare Diseases Info Center

GARD:17473

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

hereditary spastic paraplegia 43

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary spastic paraplegia 43

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications