lipodystrophy, familial partial, type 9
MONDO:0958034Mondo
Findings
No curated finding names lipodystrophy, familial partial, type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
44 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.
- Demyelinating peripheral neuropathyHPOHP:0007108
- 5 of 5 reported patients
- Elevated hemoglobin A1cHPOHP:0040217
- 7 of 7 reported patients
- GynecomastiaHPOHP:0000771
- 3 of 3 reported patients
- Hepatic steatosisHPOHP:0001397
- 7 of 7 reported patients
- HirsutismHPOHP:0001007
- 4 of 4 reported patients
- HyperglycemiaHPOHP:0003074
- 7 of 7 reported patients
- HyperinsulinemiaHPOHP:0000842
- 3 of 3 reported patients
- Insulin-resistant diabetes mellitusHPOHP:0000831
- 7 of 7 reported patients
- LipodystrophyHPOHP:0009125
- 1 of 1 reported patient
- Polycystic ovariesHPOHP:0000147
- 3 of 3 reported patients
- Skeletal muscle hypertrophyHPOHP:0003712
- 7 of 7 reported patients
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 6 of 7 reported patients
Show the remaining 32
- LipoatrophyHPOHP:0100578
- 6 of 7 reported patients
- ArthralgiaHPOHP:0002829
- 5 of 6 reported patients
- MyalgiaHPOHP:0003326
- 5 of 6 reported patients
- Acanthosis nigricansHPOHP:0000956
- 5 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 7 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 5 of 7 reported patients
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.
- PLAAT3HGNC:17825
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of