PPARG-related familial partial lipodystrophy
- Synonyms
- Familial partial lipodystrophy 3; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (46 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration
- MedGen UID: 57731
- Concept ID: C0151691
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperglycemia
Hyperglycemia
- MedGen UID: 5689
- Concept ID: C0020456
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperuricemia
Hyperuricemia
- MedGen UID: 149260
- Concept ID: C0740394
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Insulin resistance
Insulin resistance
- MedGen UID: 43904
- Concept ID: C0021655
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus
- MedGen UID: 163439
- Concept ID: C0854110
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Type 2 diabetes mellitus
Type 2 diabetes mellitus
- MedGen UID: 41523
- Concept ID: C0011860
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cirrhosis of liver
- Abnormality of the endocrine system
- Hyperinsulinemia
Hyperinsulinemia
- MedGen UID: 43779
- Concept ID: C0020459
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hyperinsulinemia
- Abnormality of the genitourinary system
- Oligomenorrhea
Oligomenorrhea
- MedGen UID: 18159
- Concept ID: C0028949
- Finding: Pathologic Function
Abnormality of the genitourinary system
- Polycystic ovaries
Polycystic ovaries
- MedGen UID: 10836
- Concept ID: C0032460
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Oligomenorrhea
- Abnormality of the integument
- Acanthosis nigricans
Acanthosis nigricans
- MedGen UID: 54
- Concept ID: C0000889
- Finding: Disease or Syndrome
Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Prominent superficial veins
Prominent superficial veins
- MedGen UID: 324870
- Concept ID: C1837785
- Finding: Finding
Abnormality of the integument
- Acanthosis nigricans
- Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Loss of gluteal subcutaneous adipose tissue
Loss of gluteal subcutaneous adipose tissue
- MedGen UID: 870173
- Concept ID: C4024606
- Finding: Finding
Abnormality of the musculoskeletal system
- Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs
- MedGen UID: 325248
- Concept ID: C1837764
- Finding: Finding
Abnormality of the musculoskeletal system
- Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
- MedGen UID: 387876
- Concept ID: C1857657
- Finding: Finding
Abnormality of the musculoskeletal system
- Lipodystrophy
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