INSDM
MCID: INS034
MIFTS: 26

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 57 72
Islet Cell Adenomatosis 57 72 29 6 70
Insdm 57 72
Nesidioblastosis 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
insulinomatosis and diabetes mellitus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 147630
MeSH 44 D007516
MedGen 41 C1578917
UMLS 70 C0027773 C1578917

Summaries for Insulinomatosis and Diabetes Mellitus

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Insulinomatosis and Diabetes Mellitus, also known as islet cell adenomatosis, is related to insulinoma and hyperinsulinemic hypoglycemia. An important gene associated with Insulinomatosis and Diabetes Mellitus is MAFA (MAF BZIP Transcription Factor A). The drugs Exenatide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreatic islet, and related phenotypes are developmental glaucoma and developmental cataract

UniProtKB/Swiss-Prot : 72 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 insulinoma 10.3
2 hyperinsulinemic hypoglycemia 10.2
3 diabetes mellitus 10.2
4 hypoglycemia 10.2
5 diarrhea 10.0
6 hyperinsulinism 10.0
7 hypokalemia 10.0
8 adenoma 10.0
9 posttransplant acute limbic encephalitis 10.0

Graphical network of the top 20 diseases related to Insulinomatosis and Diabetes Mellitus:



Diseases related to Insulinomatosis and Diabetes Mellitus

Symptoms & Phenotypes for Insulinomatosis and Diabetes Mellitus

Human phenotypes related to Insulinomatosis and Diabetes Mellitus:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 developmental glaucoma 31 very rare (1%) HP:0001087
2 developmental cataract 31 very rare (1%) HP:0000519
3 diabetes mellitus 31 HP:0000819
4 hyperinsulinemic hypoglycemia 31 HP:0000825
5 impaired glucose tolerance 31 HP:0040270
6 multiple pancreatic beta-cell adenomas 31 HP:0008194

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
diabetes mellitus
hyperinsulinemic hypoglycemia
impaired glucose tolerance

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

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

Abdomen Pancreas:
multiple pancreatic beta-cell adenomas

Neoplasia:
multifocal well-differentiated beta-cell neuroendocrine tumors

Clinical features from OMIM®:

147630 (Updated 20-May-2021)

Drugs & Therapeutics for Insulinomatosis and Diabetes Mellitus

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Early Phase 1 141758-74-9 15991534
2
Glucagon Approved Early Phase 1 16941-32-5
3
Cysteine Approved, Nutraceutical Early Phase 1 52-90-4 5862
4 Hormones Early Phase 1
5 Anti-Obesity Agents Early Phase 1
6 Hypoglycemic Agents Early Phase 1
7 Hormone Antagonists Early Phase 1
8 Glucagon-Like Peptide 1 Early Phase 1
9 Incretins Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Genetic tests related to Insulinomatosis and Diabetes Mellitus:

# Genetic test Affiliating Genes
1 Islet Cell Adenomatosis 29 MAFA

Anatomical Context for Insulinomatosis and Diabetes Mellitus

MalaCards organs/tissues related to Insulinomatosis and Diabetes Mellitus:

40
Pancreatic Islet

Publications for Insulinomatosis and Diabetes Mellitus

Articles related to Insulinomatosis and Diabetes Mellitus:

(show all 17)
# Title Authors PMID Year
1
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. 61 6 57
29339498 2018
2
Familial islet-cell adenomatosis. 61 57
70643 1977
3
Insulinomatosis: a multicentric insulinoma disease that frequently causes early recurrent hyperinsulinemic hypoglycemia. 57
19011561 2009
4
Nesidioblastosis in adults: a challenging cause of organic hyperinsulinism. 61
12795645 2003
5
Ampullary adenocarcinoma in neurofibromatosis type 1. Case report and literature review. 61
11706080 2001
6
[Special diagnostic and therapeutic aspects of insulinoma]. 61
9156976 1997
7
Argyrophil and beta-endorphin immunoreactive cells in focal islet-cell adenomatosis and insulin-producing islet-cell adenomata. 61
1963254 1990
8
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. 61
2853026 1988
9
Beckwith-Wiedemann syndrome: a quantitative, immunohistochemical study of pancreatic islet cell populations. 61
2868957 1985
10
Islet cell adenomatosis: a report of two cases and review of the literature. 61
6260058 1981
11
Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. 61
6987458 1980
12
Insulin, proinsulin, glucagon and gastrin in pancreatic tumors and in plasma of patients with organic hyperinsulinism. 61
14970 1977
13
Neonatal hypoglycemia resulting from islet cell adenomatosis. Successful treatment with total pancreatectomy. 61
189596 1977
14
Insulinoma in a pregnant woman. 61
175325 1976
15
The ultrastructure of focal islet cell adenomatosis in the newborn with hypoglycemia and hyperinsulinism. 61
165615 1975
16
[Islet cell adenomatosis associated with therapy watery diarrhea and hypokalemia. (Verner-Morrison Syndrome)]. 61
4345474 1972
17
Islet cell adenomatosis and adenoma in an infant. 61
4327051 1971

Variations for Insulinomatosis and Diabetes Mellitus

ClinVar genetic disease variations for Insulinomatosis and Diabetes Mellitus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAFA NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) SNV Likely pathogenic 496645 rs1554635488 GRCh37: 8:144512386-144512386
GRCh38: 8:143430216-143430216

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

72
# Symbol AA change Variation ID SNP ID
1 MAFA p.Ser64Phe VAR_080790 rs155463548

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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