Trait
Inability to make and keep healthy fat tissue
Clinical name: Lipodystrophy
Degenerative changes of the fat tissue.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Inability to make and keep healthy fat tissue, and the rest of your genome, with one test.
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Get my Genome Test50 genes linked to Inability to make and keep healthy fat tissue
Changes in these genes cause rare conditions in which Inability to make and keep healthy fat tissue is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ADRA2Aadrenoceptor alpha 2A | Always | In 1 condition |
| AKT2AKT serine/threonine kinase 2 | Always | In 1 condition |
| CAVIN1caveolae associated protein 1 | Always | In 1 condition |
| CIDECcell death inducing DFFA like effector c | Always | In 2 conditions |
| LIPElipase E, hormone sensitive type | Always | In 2 conditions |
| LMF1lipase maturation factor 1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 8 conditions |
| MFN2mitofusin 2 | Always | In 1 condition |
| OTULINOTU deubiquitinase with linear linkage specificity | Always | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Always | In 1 condition |
| PLAAT3phospholipase A and acyltransferase 3 | Always | In 1 condition |
| PLIN1perilipin 1 | Always | In 1 condition |
| POLD1DNA polymerase delta 1, catalytic subunit | Always | In 1 condition |
| POMPproteasome maturation protein | Always | In 1 condition |
| PPARGperoxisome proliferator activated receptor gamma | Always | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Always | In 1 condition |
| SPRTNSprT-like N-terminal domain | Always | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Very often (80–99%) | In 3 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Very often (80–99%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Very often (80–99%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Very often (80–99%) | In 1 condition |
| CAV1caveolin 1 | Very often (80–99%) | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| ALBalbumin | Often (30–79%) | In 2 conditions |
| DNASE2deoxyribonuclease 2, lysosomal | Often (30–79%) | In 1 condition |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Often (30–79%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Often (30–79%) | In 2 conditions |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| WRNWRN RecQ like helicase | Often (30–79%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| EMDemerin | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Sometimes (5–29%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Sometimes (5–29%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sometimes (5–29%) | In 1 condition |
Show 10 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Sometimes (5–29%) | In 1 condition |
| TMEM43transmembrane protein 43 | Sometimes (5–29%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| VPS4Avacuolar protein sorting 4 homolog A | Sometimes (5–29%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rarely (1–4%) | In 1 condition |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Not recorded | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| NOTCH3notch receptor 3 | Not recorded | In 1 condition |
| PSMB4proteasome 20S subunit beta 4 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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