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cholesterol biosynthetic process disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cholesterol biosynthetic process disease

MONDO:0045017

Also known as:cholesterol synthesis diseasedisorder of cholesterol biosynthetic processdisorder of cholesterol synthesis

Overview

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

OnsetCONGENITAL, INFANTILE, CHILDHOOD

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.

No HPO annotations are available for this condition.

Age of onset: at birth, infancy, childhood.

GeneReviews

Clinical Guidance

Lathosterolosis is an ultra-rare disorder of cholesterol biosynthesis. To date, seven affected individuals have been reported [, , , , , , ]. Hence, the full phenotypic spectrum is unknown at present. However, developmental delay, intellectual disability, microcephaly, facial dysmorphisms, cataracts, digit anomalies, and liver involvement appear to be consistent features of this condition . The following description of the phenotypic features associated with this condition is based on the published case reports. Table 2. Lathosterolosis: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Lathosterolosis should be suspected in individuals with the following clinical, laboratory, imaging, and family history findings.

Clinical findings

Global developmental delays
Intellectual disability
Microcephaly

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for cholesterol biosynthetic process disease. The disease remains an area of unmet medical need.

Gene therapy approaches for cholesterol biosynthetic process disease have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for lathosterolosis have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with lathosterolosis, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Lathosterolosis: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Lathosterolosis: Recommended Surveillance

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 cholesterol biosynthetic process disease.

346 publications have been identified in PubMed for cholesterol biosynthetic process disease. Research spans Basic Science / Preclinical (62%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Laboratory research	215	62%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 10:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→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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Feature	Proportion of Persons w/Feature1	Comment
Global developmental delay/ intellectual disability	6/6	Mild to severe
Microcephaly	6/6	—
Hypotonia	5/6	—
Dysmorphic facial features	6/6	Bitemporal narrowing, sloping forehead, epicanthal folds, ptosis, downslanting palpebral fissures, anteverted nares, broad nasal tip, long philtrum, high-arched palate, micrognathia
Cataracts	6/6	—
Digit anomalies	6/6	Postaxial polydactyly, toe syndactyly, /or clinodactyly
Liver disease	6/6	Seven individuals with lathosterolosis have been described in the literature thus far. However, diagnosis was established based on histopathologic and molecular studies of a fetus aborted at 21 weeks' gestation .

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Eyes	Ophthalmology eval	To assess visual acuity for cataracts Liver
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of lathosterolosis to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent; Social work involvement for parental support; Home nursing referral ALP = alkaline phosphatase; ALT = alanine aminotransferase; GGT = gamma-glutamyl transferase; MOI = mode of inheritance 1.
Lathosterolosis: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other Developmental delay/
Intellectual disability	See .	—
Cataracts	Treatment per ophthalmologist	Cataracts may appear after birth progress gradually.
Digit anomalies	Treatment per orthopedist	—
Liver disease	Treatment per hepatologist	Avoid hepatotoxic drugs.
Genitourinary anomalies	Treatment per nephrologist /or urologist	Family/Community

Kisho

cholesterol biosynthetic process disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Trials

Recent Publications

cholesterol biosynthetic process disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Trials

Recent Publications