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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Donohue Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Donohue Syndrome
Endocrine System Diseases > Diabetes Mellitus > Donohue Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Glucose Metabolism Disorders > Diabetes Mellitus > Donohue Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Donohue Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Donohue Syndrome

Terme préférentiel

Donohue Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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. Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms.

Concept générique

Concepts associés

Synonyme(s)

  • Leprechaunism

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-XL91ZWZ6-R

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 03/07/2012