MCID: INS034
MIFTS: 21

Insulinomatosis and Diabetes Mellitus

Categories: Genetic diseases

Aliases & Classifications for Insulinomatosis and Diabetes Mellitus

MalaCards integrated aliases for Insulinomatosis and Diabetes Mellitus:

Name: Insulinomatosis and Diabetes Mellitus 57
Islet Cell Adenomatosis 57 6 73
Nesidioblastosis 73
Insdm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
insulinomatosis and diabetes mellitus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 147630
MedGen 42 C1578917
SNOMED-CT via HPO 69 263681008 73211009
UMLS 73 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)

MalaCards based summary : Insulinomatosis and Diabetes Mellitus, also known as islet cell adenomatosis, is related to hypoglycemia and hyperinsulinism. 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 diabetes mellitus and multiple pancreatic beta-cell adenomas

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 10.1
2 hyperinsulinism 9.9
3 adenoma 9.9

Symptoms & Phenotypes for Insulinomatosis and Diabetes Mellitus

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
congenital cataract (in some patients)
congenital glaucoma (in some patients)

Endocrine Features:
impaired glucose tolerance
diabetes mellitus
hyperinsulinemic hypoglycemia

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

Human phenotypes related to Insulinomatosis and Diabetes Mellitus:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 multiple pancreatic beta-cell adenomas 32 HP:0008194

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 Phase 1,Early Phase 1 141758-74-9 15991534
2 Glucagon-Like Peptide 1 Phase 1,Early Phase 1
3 Hormone Antagonists Phase 1,Early Phase 1
4 Hormones Phase 1,Early Phase 1
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1,Early Phase 1
6 Hypoglycemic Agents Phase 1,Early Phase 1
7 Incretins Phase 1,Early Phase 1
8 glucagon Early Phase 1
9 cysteine Nutraceutical Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GLP1R-imaging in Hypoglycemia Recruiting 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
Argyrophil and beta-endorphin immunoreactive cells in focal islet-cell adenomatosis and insulin-producing islet-cell adenomata. ( 1963254 )
1990
2
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
3
Islet cell adenomatosis: a report of two cases and review of the literature. ( 6260058 )
1981
4
Neonatal hypoglycemia resulting from islet cell adenomatosis. Successful treatment with total pancreatectomy. ( 189596 )
1977
5
Familial islet-cell adenomatosis. ( 70643 )
1977
6
The ultrastructure of focal islet cell adenomatosis in the newborn with hypoglycemia and hyperinsulinism. ( 165615 )
1975
7
Islet cell adenomatosis and adenoma in an infant. ( 4327051 )
1971

Variations for Insulinomatosis and Diabetes Mellitus

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 Pathogenic GRCh38 Chromosome 8, 143430216: 143430216
2 MAFA NM_201589.3(MAFA): c.191C> T (p.Ser64Phe) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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