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Traits
Traits linked to PPARG
peroxisome proliferator activated receptor gamma
The Human Phenotype Ontology links 46 traits to PPARG, by body system: features seen in people with one of the gene's rare conditions.
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Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Body fails to respond to insulin | Alati |
| Hyperinsulinemia | Alati |
| Increased plasma triglycerides | Alati |
| Noninsulin-dependent diabetes | Alati |
| Diabetes mellitus | Väga sageli (80–99%) |
| Insulin resistant diabetes | Väga sageli (80–99%) |
| Decreased circulating high-density lipoprotein cholesterol | Sageli (30–79%) |
| High blood sugar | Sageli (30–79%) |
| Fatty infiltration of liver | Mõnikord (5–29%) |
| High blood uric acid level | Mõnikord (5–29%) |
| Decreased resting energy expenditure | Pole registreeritud |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| High blood pressure | Alati |
| Narrowing and hardening of arteries | Sageli (30–79%) |
| Cardiac failure | Mõnikord (5–29%) |
| Enlarged and thickened heart muscle | Mõnikord (5–29%) |
| Increased spleen size | Mõnikord (5–29%) |
| Plaque build-up in arteries supplying blood to heart | Mõnikord (5–29%) |
| Prominent veins on trunk | Harva (1–4%) |
| Prominent veins | Pole registreeritud |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Absent/small skin | Väga sageli (80–99%) |
| Yellow bumps of fatty deposits on skin | Väga sageli (80–99%) |
| Darkened and thickened skin | Sageli (30–79%) |
| Thin skin | Sageli (30–79%) |
| Excessive hairiness over body | Mõnikord (5–29%) |
| Excessive hairiness | Pole registreeritud |
| Reduced fat tissue below the skin | Pole registreeritud |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Inability to make and keep healthy fat tissue | Alati |
| Loss of fat tissue in localized area | Alati |
| Loss of fat tissue below the skin in limbs | Väga sageli (80–99%) |
| Increased skeletal muscle cells | Sageli (30–79%) |
| Abnormality of skeletal muscle fiber size | Mõnikord (5–29%) |
| Muscle tissue disease | Mõnikord (5–29%) |
| Loss of fat tissue below the skin in gluts | Pole registreeritud |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Light or infrequent menstrual periods | Sageli (30–79%) |
| Previous menstrual periods stop | Sageli (30–79%) |
| Primary amenorrhea | Sageli (30–79%) |
| Painful menstruation | Mõnikord (5–29%) |
| Polycystic ovaries | Mõnikord (5–29%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Väga sageli (80–99%) |
| Pancreatic inflammation | Mõnikord (5–29%) |
| Scar tissue replaces healthy tissue in the liver | Harva (1–4%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Increased waist to hip ratio | Pole registreeritud |
| Obesity | Pole registreeritud |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decreased amount of facial fat | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Calf muscle pseudohypertrophy | Mõnikord (5–29%) |
Constitutional symptom
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Muscle ache | Mõnikord (5–29%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to PPARG and how often each is seen. Find out more at hpo.jax.org.
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