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desmosterolosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

desmosterolosis

MONDO:0011217

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Overview

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

GeneticsAutosomal recessive · DHCR24 (chr 1)

OnsetCONGENITAL

Clinical Trials1 registered

ResearchLimited published research (5 articles)

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: Elevated circulating desmosterol concentration, Short stature, Abnormal cholesterol levels (abnormal circulating cholesterol concentration), and Global developmental delay and others; and very common findings: Failure to thrive, Enlarged brain ventricles (ventriculomegaly), Distal arthrogryposis, and Reduced cerebral white matter volume and others. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6

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.

DHCR24 encodes 24-dehydrocholesterol reductase (516 aa). Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. Highest expression in Adrenal Gland (1,544 TPM) and Brain Spinal cord cervical c-1 (624.1 TPM).

Desmosterolosis is caused by mutations in the DHCR24 gene on chromosome 1.

The DHCR24 protein participates in Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway) pathway.

DHCR24 is classified as a druggable target (Enzyme category) with score 6.5.

Diagnosis

Genetic testing for DHCR24 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 5 very common features, 20 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.

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

5 publications have been identified in PubMed for desmosterolosis. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

Kose CC (2026). [PMID: 41500862](https://pubmed.ncbi.nlm.nih.gov/41500862/). *Journal of clinical lipidology*. [Case Report / Case Series]
Zhu H (2026). [PMID: 41987278](https://pubmed.ncbi.nlm.nih.gov/41987278/). *Lipids Health Dis*. [Review / Meta-Analysis]
Westbye AB (2025). [PMID: 39566847](https://pubmed.ncbi.nlm.nih.gov/39566847/). *J Lipid Res*. [Review / Meta-Analysis]
Wang X (2024). [PMID: 38775844](https://pubmed.ncbi.nlm.nih.gov/38775844/). *Cellular and molecular life sciences : CMLS*. [Basic Science / Preclinical]
Hegde PS (2024). [PMID: 39606856](https://pubmed.ncbi.nlm.nih.gov/39606856/). *J Dev Orig Health Dis*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 1:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602398

Orphanet

European rare disease database

Orphanet:35107

GARD

Genetic and Rare Diseases Info Center

GARD:10283

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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desmosterolosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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