Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

MONDO:0011714

Also known as:lipodystrophy, familial partial, type 7LCCNSlipodystrophy, partial, with congenital cataracts and neurodegeneration

Overview

GeneticsAutosomal dominant · CAV1 (chr 7)

OnsetADULT

ResearchLimited published research (8 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: Hypertriglyceridemia, Cutis marmorata, and Triangular face; and very common findings: Lipodystrophy. 54 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Dry skin, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue

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.

CAV1 encodes caveolin 1 (178 aa). May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Highest expression in Cells Cultured fibroblasts (889.9 TPM) and Adipose Subcutaneous (543.3 TPM).

Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome is associated with mutations in the CAV1 gene on chromosome 7.

The CAV1 protein participates in CAV1 gene expression is stimulated by FOXO1,FOXO3, CACNA1D:CACNA2D2:CACNB2 (Cav1.3 channel) transports Ca2+ into the cytosol of an inner hair cell, and CDC42 GDIs block activation of CDC42 pathways.

CAV1 is classified as a druggable target (Kinase and Transporter categories) with score 13.1.

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.

Genetic testing for CAV1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 40 common features.

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 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome.

8 publications have been identified in PubMed for partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (13%), and Clinical Trial Publication (13%).

Recent Publications

Hwang M (2026). [PMID: 41751861](https://pubmed.ncbi.nlm.nih.gov/41751861/). *Int J Mol Sci*. [Case Report / Case Series]
Mendoza C (2026). [PMID: 42039119](https://pubmed.ncbi.nlm.nih.gov/42039119/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Muniz RBG (2026). [PMID: 42158918](https://pubmed.ncbi.nlm.nih.gov/42158918/). *Front Endocrinol (Lausanne)*. [Clinical Trial Publication]
Lamothe S (2025). [PMID: 41623137](https://pubmed.ncbi.nlm.nih.gov/41623137/). *Diabetes Metab*. [Epidemiology / Natural History]
Rajan R (2024). [PMID: 39550450](https://pubmed.ncbi.nlm.nih.gov/39550450/). *Sci Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606721

GARD

Genetic and Rare Diseases Info Center

GARD:18038

Questions for Your Care Team

→Should I pursue genetic testing for CAV1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features