Congenital generalized lipodystrophy type 4
- Synonyms
- BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULAR DYSTROPHY
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 (25 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Insulin resistance
Insulin resistance
- MedGen UID: 43904
- Concept ID: C0021655
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Atrial fibrillation
Atrial fibrillation
- MedGen UID: 445
- Concept ID: C0004238
- Finding: Finding
Abnormality of the cardiovascular system
- Bradycardia
Bradycardia
- MedGen UID: 140901
- Concept ID: C0428977
- Finding: Finding
Abnormality of the cardiovascular system
- Prolonged QT interval
Prolonged QT interval
- MedGen UID: 57494
- Concept ID: C0151878
- Finding: Finding
Abnormality of the cardiovascular system
- Tachycardia
Tachycardia
- MedGen UID: 21453
- Concept ID: C0039231
- Finding: Finding
Abnormality of the cardiovascular system
- Vascular dilatation
Vascular dilatation
- MedGen UID: 8076
- Concept ID: C0002940
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Atrial fibrillation
- Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
Congenital hypertrophic pyloric stenosis
- MedGen UID: 196010
- Concept ID: C0700639
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
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
- Ileus
Ileus
- MedGen UID: 219874
- Concept ID: C1258215
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Prominent umbilicus
Prominent umbilicus
- MedGen UID: 324875
- Concept ID: C1837795
- Finding: Finding
Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
- 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 immune system
- Decreased circulating IgA concentration
Decreased circulating IgA concentration
- MedGen UID: 57934
- Concept ID: C0162538
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgA concentration
- 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
- Accelerated skeletal maturation
Accelerated skeletal maturation
- MedGen UID: 154262
- Concept ID: C0545053
- Finding: Finding
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized muscle weakness
Generalized muscle weakness
- MedGen UID: 155433
- Concept ID: C0746674
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Hyperlordosis
Hyperlordosis
- MedGen UID: 9805
- Concept ID: C0024003
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscle mounding
Muscle mounding
- MedGen UID: 340037
- Concept ID: C1853702
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle stiffness
Muscle stiffness
- MedGen UID: 113151
- Concept ID: C0221170
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular dystrophy
Muscular dystrophy
- MedGen UID: 44527
- Concept ID: C0026850
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Skeletal muscle hypertrophy
Skeletal muscle hypertrophy
- MedGen UID: 853739
- Concept ID: C2265792
- Finding: Finding
Abnormality of the musculoskeletal system
- Spinal rigidity
Spinal rigidity
- MedGen UID: 346721
- Concept ID: C1858025
- Finding: Finding
Abnormality of the musculoskeletal system
- Accelerated skeletal maturation
- Abnormality of the respiratory system
- Recurrent pneumonia
Recurrent pneumonia
- MedGen UID: 195802
- Concept ID: C0694550
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent pneumonia
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Exercise intolerance
- Growth abnormality
- Acral overgrowth
Acral overgrowth
- MedGen UID: 1789172
- Concept ID: C1735881
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Acral overgrowth
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