KEGG DISEASE: Insulinomatosis and diabetes mellitus syndrome

KEGG

DISEASE: Insulinomatosis and diabetes mellitus syndrome

Entry

H02806                      Disease

Name

Insulinomatosis and diabetes mellitus syndrome

Description

Insulinomatosis and diabetes mellitus syndrome (INSDM) is an autosomal dominant syndrome. Insulinomatosis is a condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. It has been reported that mutations in MAFA cause this syndrome. MAFA belongs to the family of large MAF transcription factors and is expressed in islet beta-cells. It is required for postnatal beta-cell function and acts as a transactivator of insulin and several genes involved in glucose-stimulated insulin secretion.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Diabetes mellitus
    5A13  Diabetes mellitus, other specified type
     H02806  Insulinomatosis and diabetes mellitus syndrome

Gene

MAFA [HSA:389692] [KO:K07595]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brandle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Kloppel G, Stein R, Korbonits M, Ellard S

Title

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Journal

Proc Natl Acad Sci U S A 115:1027-1032 (2018)
DOI:10.1073/pnas.1712262115

Reference

Authors

Christ E, Iacovazzo D, Korbonits M, Perren A

Title

Insulinomatosis: new aspects.

Journal

Endocr Relat Cancer 30:e220327 (2023)
DOI:10.1530/ERC-22-0327

LinkDB

» Japanese version

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