lipodystrophy, familial partial, type 8
MONDO:0958022Mondo
Findings
No curated finding names lipodystrophy, familial partial, type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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.
- Diabetes mellitusHPOHP:0000819
- 3 of 3 reported patients
- Dorsocervical fat padHPOHP:0025383
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- HyperglycemiaHPOHP:0003074
- 3 of 3 reported patients
- HypertensionHPOHP:0000822
- 3 of 3 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- LipodystrophyHPOHP:0009125
- 3 of 3 reported patients
- Acanthosis nigricansHPOHP:0000956
- 1 of 2 reported patients
- GoutHPOHP:0001997
- 1 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 3 reported patients
- HyperuricemiaHPOHP:0002149
- 1 of 3 reported patients
- Obstructive sleep apneaHPOHP:0002870
- 1 of 3 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.
- ADRA2AHGNC:281
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of