lipodystrophy, partial, acquired, susceptibility to
Findings
No curated finding names lipodystrophy, partial, acquired, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.
Definition from the Mondo Disease Ontology (MONDO:0100476), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- Loss of subcutaneous adipose tissue from upper limbsHPOHP:0009056
- 1 of 1 reported patient
- Loss of truncal subcutaneous adipose tissueHPOHP:0009002
- 1 of 1 reported patient
- Progressive loss of facial adipose tissueHPOHP:0009019
- 1 of 1 reported patient
Genes
1 gene
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.
- LMNB2HGNC:6638
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: lipodystrophy, partial, acquired, susceptibility to
- Also called
- APLD, susceptibility tolipodystrophy, cephalothoracic typelipodystrophy, partial, acquired, susceptibilitylipodystrophy, partial, progressive