Congenital generalized lipodystrophy type 3
- Synonyms
- BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Lionel Van Maldergem
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (35 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Diabetes mellitus
Diabetes mellitus
- MedGen UID: 8350
- Concept ID: C0011849
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypercholesterolemia
Hypercholesterolemia
- MedGen UID: 5687
- Concept ID: C0020443
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypocalcemia
Hypocalcemia
- MedGen UID: 5705
- Concept ID: C0020598
- 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
- Diabetes mellitus
- Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatic steatosis
- Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Primary amenorrhea
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- 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
- Acanthosis nigricans
- Abnormality of the musculoskeletal system
- Generalized lipodystrophy
Generalized lipodystrophy
- MedGen UID: 1369615
- Concept ID: C4317112
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
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
- Generalized lipodystrophy
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.