cholesterol biosynthetic process disease - Symptoms, Causes & Research | Kisho | Kisho

cholesterol biosynthetic process disease

Rare Disease

MONDO:0045017

Also known as:

cholesterol synthesis diseasedisorder of cholesterol biosynthetic processdisorder of cholesterol synthesis

A disease that has its basis in the disruption of cholesterol biosynthetic process.

Genes

Clinical Trials

1 active

Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

QC Validated

Evidence base: Early

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Associated Genes

3 genes

DHCR7 SC5D DHCR24

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

3 genes

DHCR7 SC5D DHCR24

Gene data from HGNC • Click to view on NCBI Gene

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(3 data sources · Data coverage: Limited)

Overview

Cholesterol biosynthetic process disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

The disease is characterized by a disruption in the cholesterol biosynthetic process. Currently, there are no known associated genes, inheritance patterns, or documented symptoms. Additionally, there are no orphan drug designations under investigation for this condition.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand potential implications. Connecting with rare disease registries and online patient communities may provide additional support and resources.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

3 genes

DHCR7 SC5D DHCR24

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 8, 2026

Support

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AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.

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cholesterol biosynthetic process disease

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

Related Diseases

Know a Patient Advocacy Group for this condition?

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