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sterol carrier protein 2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sterol carrier protein 2 deficiency

MONDO:0013391

Also known as:SCP2 deficiencyleukoencephalopathy-dystonia-motor neuropathy syndromeLKDMN

Find Clinical TrialsTrials

Overview

A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.

GeneticsAutosomal recessive · SCP2 (chr 1)

Clinical Trials1 registered · 1 recruiting

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: Torticollis, Hearing loss (hearing impairment), Decreased motor nerve conduction velocity, and Dystonia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Dystonia, Leukoencephalopathy, Intention tremor

Genetic Landscape

SCP2 function has not been fully characterized.

Sterol carrier protein 2 deficiency is caused by mutations in the SCP2 gene on chromosome 1.

Diagnosis

Genetic testing for SCP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for sterol carrier protein 2 deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 15 always present 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

108 publications have been identified in PubMed for sterol carrier protein 2 deficiency. Kisho has analyzed 84 by research type. Research spans Review / Meta-Analysis (77%), Basic Science / Preclinical (11%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	65

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613724

Orphanet

European rare disease database

Orphanet:163684

GARD

Genetic and Rare Diseases Info Center

GARD:12471

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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

sterol carrier protein 2 deficiency

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

sterol carrier protein 2 deficiency

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