hereditary lipodystrophy

Findings

No curated finding names hereditary lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary skin disorder
• inborn errors of metabolism
• lipodystrophy

Narrower terms (11)

• Berardinelli-Seip congenital lipodystrophy
• congenital generalized lipodystrophy
• familial partial lipodystrophy
• Keppen-Lubinsky syndrome
• lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
• lipodystrophy due to peptidic growth factors deficiency
• lipodystrophy-intellectual disability-deafness syndrome
• mandibuloacral dysplasia
• severe neurodegenerative syndrome with lipodystrophy
• SHORT syndrome
• Wiedemann-Rautenstrauch syndrome

Resolves to: hereditary lipodystrophy

Also called

genetic lipodystrophygenetic lipodystrophy (disease)