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autosomal semi-dominant severe lipodystrophic laminopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal semi-dominant severe lipodystrophic laminopathy

MONDO:0017230

Overview

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 very common findings: Micrognathia, Narrow nasal ridge, Diabetes mellitus, and Insulin resistance and others; and common findings: Polycystic ovaries, Increased facial adipose tissue, Round face, and Increased adipose tissue around the neck and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin
Digestive system

Prognosis

Phenotype severity distribution: 15 very common features, 22 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:280365

GARD

Genetic and Rare Diseases Info Center

GARD:21080

Questions for Your Care Team

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autosomal semi-dominant severe lipodystrophic laminopathy

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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