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cataract 44 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 44

MONDO:0014673

Also known as:total early-onset cataractCTRCT44LSS early-onset non-syndromic cataract

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.

GeneticsAutosomal recessive · LSS (chr 21)

Clinical Presentation

Features include always present findings: Developmental cataract. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Developmental cataract

Explore clinical features

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.

LSS encodes lanosterol synthase (732 aa). Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Highest expression in Brain Spinal cord cervical c-1 (93.6 TPM) and Pituitary (81.3 TPM).

Cataract 44 is associated with mutations in the LSS gene on chromosome 21.

The LSS protein participates in Expression of Lanosterol Synthase (LSS), Squalene 2,3-epoxide cyclizes, forming lanosterol, and SREBP1A,2:LSS gene pathways.

LSS is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for cataract 44 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 cataract 44.

204 publications have been identified in PubMed for cataract 44. Kisho has analyzed 160 by research type. Research spans Epidemiology / Natural History (36%), Clinical Trial Publication (28%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	58	36%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616509

GARD

Genetic and Rare Diseases Info Center

GARD:16127

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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cataract 44

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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