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cardiac lipidosis, familial - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiac lipidosis, familial

MONDO:0008911

Overview

GeneticsAutosomal recessive

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: Microcephaly, Abnormality of metabolism/homeostasis, Congestive heart failure, and Heart muscle disease (cardiomyopathy).

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Congestive heart failure, Heart muscle disease (cardiomyopathy)

Diagnosis

Biomarker and diagnostic research for cardiac lipidosis, familial has been reported in the published literature.

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 cardiac lipidosis, familial.

31 publications have been identified in PubMed for cardiac lipidosis, familial. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (19%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	11	35%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212080

GARD

Genetic and Rare Diseases Info Center

GARD:15148

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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Kisho

cardiac lipidosis, familial

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cardiac lipidosis, familial

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications