Simpson-Golabi-Behmel syndrome

A congenital X-linked recessive form of gigantism. It is also characterized by coarse FACIES, congenital heart defects, and other congenital abnormalities. It is phenotypically similar to BECKWITH-WIEDEMANN SYNDROME (OMIM: 130650). Mutations in the GPC3 gene have been identified. OMIM: 312870

Also Known As:

Bulldog syndrome; Dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; Mental Retardation-Overgrowth Syndrome; SGBS1; Simpson Dysplasia Syndrome; Simpson Syndrome; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel Syndrome, Type 1

Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Cardiac Arrhythmias: 20790
    - Simpson-Golabi-Behmel syndrome: 120
  - Congenital Heart Defects: 8917
    - Simpson-Golabi-Behmel syndrome: 120
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Simpson-Golabi-Behmel syndrome: 120
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Cardiac Arrhythmias: 20790
    - Simpson-Golabi-Behmel syndrome: 120
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Simpson-Golabi-Behmel syndrome: 120
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Gigantism: 265
      - Simpson-Golabi-Behmel syndrome: 120
  - Endocrine Bone Diseases: 3
    - Gigantism: 265
      - Simpson-Golabi-Behmel syndrome: 120
Endocrine System Diseases: 968
- Pituitary Diseases: 562
  - Hyperpituitarism: 15
    - Gigantism: 265
      - Simpson-Golabi-Behmel syndrome: 120
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Simpson-Golabi-Behmel syndrome: 120
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Simpson-Golabi-Behmel syndrome: 120
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Simpson-Golabi-Behmel syndrome: 120
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Simpson-Golabi-Behmel syndrome: 120
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Simpson-Golabi-Behmel syndrome: 120

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Disease

Drug/Important Bio-Agent (IBA)