sterol carrier protein 2 deficiency
Findings
No curated finding names sterol carrier protein 2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0013391), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AzoospermiaHPOHP:0000027
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated circulating pristanic acid concentrationHPOHP:0034721
- 1 of 1 reported patient
- Focal T2 hyperintense thalamic lesionHPOHP:0012692
- 1 of 1 reported patient
- Head tremorHPOHP:0002346
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCP2HGNC:10606
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: sterol carrier protein 2 deficiency
- Also called
- leukoencephalopathy-dystonia-motor neuropathy syndromeSCP2 deficiency