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Disease Donohue Syndrome

Name Donohue Syndrome
Synonyms Leprechaunism | LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN, INCLUDED | Leprechaunisms | Mendenhall Syndrome | Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities | Rabson Mendenhall Syndrome | Rabson-Mendenhall Syndrome | Syndrome, Donohue | Syndrome, Mendenhall | Syndrome, Rabson-Mendenhall
Definition 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.
Categories Congenital abnormality | Endocrine system disease | Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease
MeSH® ID D056731
OMIM® IDs 246200 | 262190
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Donohue Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Donohue Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Donohue Syndrome Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Glucose Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Diabetes Mellitus Has associated chemicals Has associated genes Has associated exposure references Donohue Syndrome Has associated chemicals Has associated genes
5. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Diabetes Mellitus Has associated chemicals Has associated genes Has associated exposure references Donohue Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Donohue Syndrome Has associated chemicals Has associated genes
  Insulin Receptor, Defect in