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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:
Leprechaunisms; Rabson Mendenhall Syndrome; Syndrome, Donohue; Syndrome, Mendenhall; Syndrome, Rabson-Mendenhall; Leprechaunism; Mendenhall Syndrome; Rabson-Mendenhall Syndrome
Networked: 164 relevant articles (2 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Insulin Resistance
2. Hyperglycemia
3. Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)
4. Donohue Syndrome
5. Hypoglycemia (Reactive Hypoglycemia)

Experts

1. Rabbone, Ivana: 2 articles (11/2015 - 12/2013)
2. Barbetti, Fabrizio: 2 articles (11/2015 - 12/2013)
3. Galderisi, Alfonso: 2 articles (11/2015 - 12/2013)
4. Cerutti, Franco: 2 articles (11/2015 - 12/2013)
5. Bonora, Enzo: 2 articles (12/2013 - 03/2008)
6. Cochran, Elaine: 2 articles (11/2013 - 04/2004)
7. Gorden, Phillip: 2 articles (11/2013 - 04/2004)
8. Jin, Dong-Kyu: 2 articles (05/2012 - 01/2010)
9. Semple, Robert K: 2 articles (01/2012 - 08/2007)
10. Zoppini, Giacomo: 2 articles (01/2010 - 03/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Donohue Syndrome:
1. Insulin (Novolin)FDA Link
2. Idiopathic hypertrophic subaortic stenosis (IHSS)IBA
3. recombinant methionyl human leptinIBA
4. Insulin ReceptorIBA
5. Insulin-Like Growth Factor I (IGF-1)IBA
6. Blood Glucose (Blood Sugar)IBA
7. Glucose (Dextrose)FDA LinkGeneric
8. Phosphotransferases (Kinase)IBA
9. Nonsense Codon (Nonsense Mutation)IBA
10. Protein-Tyrosine Kinases (Tyrosine Kinase)IBA

Therapies and Procedures

1. Subcutaneous Infusions
2. Lasers (Laser)
3. Anesthesia