Diabetes mellitus, insulin-resistant, with acanthosis nigricans
OMIM:610549Mode of inheritance:Multiple
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | INSR |
|---|---|
| Reference transcript | NM_000208.2 |
| DNA Change | c.836G>A |
| A.A. Change | p.Arg279His |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D Haens E, Kleijer WJ, Fery F, van der Zon GC.Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7. |
Polymorphisms
| Gene symbol | SLC30A8 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001172811.1 | ||||||||||
| DNA Change | c.826C>A | ||||||||||
| A.A. Change | |||||||||||
| Exon/Intron | exon 10 | ||||||||||
| Variation Type | substitution | ||||||||||
| Reference SNP | rs13266634 | ||||||||||
| Cases | 1193 T2D cases | ||||||||||
| Controls | 1055 normoglycaemic controls | ||||||||||
| Frequency |
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| Comments | polymorphism not associated with type 2 diabetes in the Moroccan sample population | ||||||||||
| Reference | Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs. Diabetes Metab. 2012 Mar 29. |