Diseases

Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities

pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities

Basic Information

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Disease Name: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Standard Disease Name: pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
MeSH Tree: No data
ICD-10: E13

Description: MSH2017_2016_08_12: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.

Direct relations and traceable candidates grouped by relation type.