INSDM
MCID: INS034
MIFTS: 24

Insulinomatosis and Diabetes Mellitus (INSDM)

Categories: Genetic diseases

Aliases & Classifications for Insulinomatosis and Diabetes Mellitus

MalaCards integrated aliases for Insulinomatosis and Diabetes Mellitus:

Name: Insulinomatosis and Diabetes Mellitus 58 76
Islet Cell Adenomatosis 58 76 6 74
Insdm 58 76
Nesidioblastosis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in third to fifth decade of life in most patients


HPO:

33
insulinomatosis and diabetes mellitus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 147630
MeSH 45 D007516
MedGen 43 C1578917

Summaries for Insulinomatosis and Diabetes Mellitus

OMIM : 58 Insulinomatosis and diabetes mellitus syndrome is an autosomal dominant disorder in which affected individuals within a family present with either hyperinsulinemic hypoglycemia secondary to pancreatic neuroendocrine tumors, or a noninsulin-dependent form of diabetes mellitus. A few affected individuals show only impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma (Iacovazzo et al., 2018). (147630)

MalaCards based summary : Insulinomatosis and Diabetes Mellitus, also known as islet cell adenomatosis, is related to hypoglycemia and diabetes mellitus. An important gene associated with Insulinomatosis and Diabetes Mellitus is MAFA (MAF BZIP Transcription Factor A). The drugs Exenatide and Glucagon-Like Peptide 1 have been mentioned in the context of this disorder. Related phenotypes are developmental cataract and developmental glaucoma

UniProtKB/Swiss-Prot : 76 Insulinomatosis and diabetes mellitus: An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin- dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma.

Related Diseases for Insulinomatosis and Diabetes Mellitus

Diseases related to Insulinomatosis and Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypoglycemia 10.2
2 diabetes mellitus 10.2
3 hyperinsulinism 10.0
4 adenoma 10.0

Symptoms & Phenotypes for Insulinomatosis and Diabetes Mellitus

Human phenotypes related to Insulinomatosis and Diabetes Mellitus:

33
# Description HPO Frequency HPO Source Accession
1 developmental cataract 33 very rare (1%) HP:0000519
2 developmental glaucoma 33 very rare (1%) HP:0001087
3 diabetes mellitus 33 HP:0000819
4 hyperinsulinemic hypoglycemia 33 HP:0000825
5 multiple pancreatic beta-cell adenomas 33 HP:0008194

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus
hyperinsulinemic hypoglycemia
impaired glucose tolerance

Abdomen Pancreas:
multiple pancreatic beta-cell adenomas

Laboratory Abnormalities:
low serum glucose with inappropriately high insulin levels (in some patients)
elevated serum glucose (in some patients)

Head And Neck Eyes:
congenital cataract (in some patients)
congenital glaucoma (in some patients)

Neoplasia:
multifocal well-differentiated beta-cell neuroendocrine tumors

Clinical features from OMIM:

147630

Drugs & Therapeutics for Insulinomatosis and Diabetes Mellitus

Drugs for Insulinomatosis and Diabetes Mellitus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 1,Early Phase 1 141758-74-9 15991534
2 Glucagon-Like Peptide 1 Phase 1,Early Phase 1
3 Anti-Obesity Agents Phase 1,Early Phase 1
4 Hypoglycemic Agents Phase 1,Early Phase 1
5 Hormone Antagonists Phase 1,Early Phase 1
6 Incretins Phase 1,Early Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1,Early Phase 1
8 Hormones Phase 1,Early Phase 1
9
Glucagon Approved Early Phase 1 16941-32-5
10 cysteine Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GLP1R-imaging in Hypoglycemia Unknown status NCT03182192 Phase 1
2 68Ga-NOTA-exendin-4 PET/CT for the Localization of Insulinoma and Diagnosis of Nesidioblastosis Unknown status NCT02560376 Early Phase 1 68Ga-NOTA-exendin-4

Search NIH Clinical Center for Insulinomatosis and Diabetes Mellitus

Genetic Tests for Insulinomatosis and Diabetes Mellitus

Anatomical Context for Insulinomatosis and Diabetes Mellitus

Publications for Insulinomatosis and Diabetes Mellitus

Articles related to Insulinomatosis and Diabetes Mellitus:

# Title Authors Year
1
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. ( 29339498 )
2018
2
Argyrophil and beta-endorphin immunoreactive cells in focal islet-cell adenomatosis and insulin-producing islet-cell adenomata. ( 1963254 )
1990
3
Production of pro-insulin, C-peptide, and insulin in nesidioblastosis, focal islet-cell adenomatosis, and genuine insulomas. A correlated radioimmunochemical, immunohistochemical, and ultrastructural investigation with particular regard to the occurrence of argyrophil and pro-insulin immunoreactive cells. ( 2853026 )
1988
4
Islet cell adenomatosis: a report of two cases and review of the literature. ( 6260058 )
1981
5
Familial islet-cell adenomatosis. ( 70643 )
1977
6
Neonatal hypoglycemia resulting from islet cell adenomatosis. Successful treatment with total pancreatectomy. ( 189596 )
1977
7
The ultrastructure of focal islet cell adenomatosis in the newborn with hypoglycemia and hyperinsulinism. ( 165615 )
1975
8
Islet cell adenomatosis and adenoma in an infant. ( 4327051 )
1971

Variations for Insulinomatosis and Diabetes Mellitus

UniProtKB/Swiss-Prot genetic disease variations for Insulinomatosis and Diabetes Mellitus:

76
# Symbol AA change Variation ID SNP ID
1 MAFA p.Ser64Phe VAR_080790

ClinVar genetic disease variations for Insulinomatosis and Diabetes Mellitus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAFA NM_201589.3(MAFA): c.191C> T (p.Ser64Phe) single nucleotide variant Likely pathogenic rs1554635488 GRCh38 Chromosome 8, 143430216: 143430216
2 MAFA NM_201589.3(MAFA): c.191C> T (p.Ser64Phe) single nucleotide variant Likely pathogenic rs1554635488 GRCh37 Chromosome 8, 144512386: 144512386

Expression for Insulinomatosis and Diabetes Mellitus

Search GEO for disease gene expression data for Insulinomatosis and Diabetes Mellitus.

Pathways for Insulinomatosis and Diabetes Mellitus

GO Terms for Insulinomatosis and Diabetes Mellitus

Sources for Insulinomatosis and Diabetes Mellitus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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