familial partial lipodystrophy, Kobberling type
Findings
No curated finding names familial partial lipodystrophy, Kobberling type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0012072), read 2026-09-29. CC BY 4.0.
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
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPOHP:0000855
- Very frequent (80% to 99% of cases)
- LipoatrophyHPOHP:0100578
- Very frequent (80% to 99% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- Hepatomegaly
Where it sits
- A kind of
Other names
2 names
Resolves to: familial partial lipodystrophy, Kobberling type
- Also called
- familial partial lipodystrophy type 1FPLD1