Rare diseases · Sign or symptom
Lipodystrophy
Inability to make and keep healthy fat tissue
HP:0009125
What it means
Degenerative changes of the fat tissue.
Rare diseases that can present with this31
Always100%
3Very common80–99%
9- Autosomal recessive cutis laxa type 2, classic type
- Autosomal semi-dominant severe lipodystrophic laminopathy
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Congenital generalized lipodystrophy
- De Barsy syndrome
- Encephalocraniocutaneous lipomatosis
- Familial partial lipodystrophy, Dunnigan type
- Lipodystrophy due to peptidic growth factors deficiency
- Wrinkly skin syndrome
Common30–79%
7The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.