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hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

MONDO:0016203

Overview

ResearchLimited published research (1 article)

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 very common findings: Cholestasis, Hepatic steatosis, Macrovesicular hepatic steatosis, and Hypertriglyceridemia and others; and common findings: Obesity, Coronary artery atherosclerosis, Accelerated atherosclerosis, and Abnormal circulating vitamin A concentration and others.

Organ System	Phenotype Count	Example Features
Digestive system	7	Cholestasis, Hepatic steatosis, Macrovesicular hepatic steatosis

Prognosis

Phenotype severity distribution: 9 very common features, 6 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 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency.

1 publication has been identified in PubMed for hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

Matta A (2024). [PMID: 39717439](https://pubmed.ncbi.nlm.nih.gov/39717439/). *Frontiers in cardiovascular medicine*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:209902

GARD

Genetic and Rare Diseases Info Center

GARD:20441

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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