Donohue Syndrome

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

Also Known As:

Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Leprechaunisms; Rabson Mendenhall Syndrome; Syndrome, Donohue; Syndrome, Mendenhall; Syndrome, Rabson-Mendenhall; Leprechaunism; Mendenhall Syndrome; Rabson-Mendenhall Syndrome

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Donohue Syndrome: 201
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Donohue Syndrome: 201
- Inborn Genetic Diseases: 11939
  - Donohue Syndrome: 201
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Glucose Metabolism Disorders: 375
    - Diabetes Mellitus: 56563
      - Donohue Syndrome: 201
Endocrine System Diseases: 968
- Diabetes Mellitus: 56563
  - Donohue Syndrome: 201

Hélène Gauthier-Moulinier Selected Research

Hélène Gauthier-Moulinier Research Topics

Disease

Drug/Important Bio-Agent (IBA)