INSDM
MCID: INS034
MIFTS: 40

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 75
Islet Cell Adenomatosis 57 75 6 73
Insdm 57 75
Nesidioblastosis 73

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:



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 hyperinsulinism and diabetes mellitus. An important gene associated with Insulinomatosis and Diabetes Mellitus is MAFA (MAF BZIP Transcription Factor A), and among its related pathways/superpathways are MECP2 and Associated Rett Syndrome and Type II diabetes mellitus. Affiliated tissues include lung, ovary and spinal cord, and related phenotypes are diabetes mellitus and glucose intolerance

UniProtKB/Swiss-Prot : 75 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:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinism 30.0 SST INS ABCC8
2 diabetes mellitus 30.0 SST MAFA INS ABCC8
3 postural hypotension 10.2 SST INS
4 postgastrectomy syndrome 10.2 SST INS
5 duodenal somatostatinoma 10.2 SST INS
6 hypoglycemia 10.2
7 pancreatic endocrine carcinoma 10.2 SST INS
8 hyperpituitarism 10.2 SST INS
9 hirata disease 10.2 INS ABCC8
10 functional gastric disease 10.1 SST INS
11 fanconi-bickel syndrome 10.1 INS ABCC8
12 acute insulin response 10.1 INS ABCC8
13 duodenitis 10.1 INS GAST
14 maturity-onset diabetes of the young, type 13 10.1 INS ABCC8
15 adenoma of the pancreas 10.1 SST CHGA
16 pylorospasm 10.1 SST GAST
17 gastrointestinal neuroendocrine tumor 10.1 SST CHGA
18 postcholecystectomy syndrome 10.1 SST GAST
19 pituitary carcinoma 10.1 SST CHGA
20 pituitary-dependent cushing's disease 10.1 SST INS
21 pancreatoblastoma 10.1 SST CHGA
22 retinitis pigmentosa 40 10.1 SST GAST
23 carcinoid tumors, intestinal 10.1 SST CHGA
24 pancreatic agenesis 10.1 INS ABCC8
25 pernicious anemia 10.1 SST GAST
26 carcinoid syndrome 10.1 SST CHGA
27 granulosa cell tumor of the ovary 10.1 INS CHGA
28 hypoglycemic coma 10.1 INS IGF2
29 binswanger's disease 10.1 SST CHGA
30 type 1 diabetes mellitus 2 10.1 INS IGF2
31 monogenic diabetes 10.1 INS ABCC8
32 carbohydrate metabolic disorder 10.1 INS ABCC8
33 autoimmune atrophic gastritis 10.1 GAST CHGA
34 malignant pheochromocytoma 10.1 SST CHGA
35 thiamine-responsive megaloblastic anemia syndrome 10.1 INS ABCC8
36 goblet cell carcinoid 10.1 GAST CHGA
37 ileum cancer 10.1 SST GAST
38 thyroid gland disease 10.1 SST INS
39 diabetes mellitus, transient neonatal, 1 10.1 INS ABCC8
40 non-functioning pancreatic endocrine tumor 10.1 GAST CHGA
41 fetal macrosomia 10.1 INS IGF2
42 pituitary gland disease 10.1 SST INS
43 adult syndrome 10.0 INS IGF2
44 rubeosis iridis 10.0 INS IGF2
45 gallbladder disease 10.0 SST INS
46 adenoma 10.0
47 maturity-onset diabetes of the young 10.0 MAFA INS ABCC8
48 endocrine pancreas disease 10.0 SST INS ABCC8
49 glucose metabolism disease 10.0 SST INS ABCC8
50 spinal canal and spinal cord meningioma 10.0 IGF2 CHGA

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Insulinomatosis and Diabetes Mellitus:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 glucose intolerance 32 HP:0000833
3 hyperinsulinemic hypoglycemia 32 HP:0000825
4 congenital glaucoma 32 very rare (1%) HP:0001087
5 congenital cataract 32 very rare (1%) HP:0000519
6 multiple pancreatic beta-cell adenomas 32 HP:0008194

MGI Mouse Phenotypes related to Insulinomatosis and Diabetes Mellitus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 ABCC8 CHGA GAST IGF2 INS MAFA
2 homeostasis/metabolism MP:0005376 9.5 ABCC8 CHGA GAST IGF2 INS MAFA
3 no phenotypic analysis MP:0003012 9.1 ABCC8 CHGA IGF2 INS MAFA SST

Drugs & Therapeutics for Insulinomatosis and Diabetes Mellitus

Search Clinical Trials , NIH Clinical Center for Insulinomatosis and Diabetes Mellitus

Genetic Tests for Insulinomatosis and Diabetes Mellitus

Anatomical Context for Insulinomatosis and Diabetes Mellitus

MalaCards organs/tissues related to Insulinomatosis and Diabetes Mellitus:

41
Lung, Ovary, Spinal Cord, Pituitary, Pancreas, Thyroid, Small Intestine

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
Neonatal hypoglycemia resulting from islet cell adenomatosis. Successful treatment with total pancreatectomy. ( 189596 )
1977
6
Familial islet-cell adenomatosis. ( 70643 )
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:

75
# 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 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

Pathways related to Insulinomatosis and Diabetes Mellitus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 IGF2 SST
2
Show member pathways
11.11 ABCC8 INS MAFA
3 10.98 IGF2 INS
4 10.8 ABCC8 INS
5 9.47 GAST SCT

GO Terms for Insulinomatosis and Diabetes Mellitus

Cellular components related to Insulinomatosis and Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 CHGA GAST IGF2 INS SCT SST
2 extracellular space GO:0005615 9.1 CHGA GAST IGF2 INS SCT SST

Biological processes related to Insulinomatosis and Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.4 IGF2 INS
2 negative regulation of insulin secretion GO:0046676 9.37 ABCC8 CHGA
3 positive regulation of mitotic nuclear division GO:0045840 9.32 IGF2 INS
4 positive regulation of glycogen biosynthetic process GO:0045725 9.26 IGF2 INS
5 positive regulation of insulin receptor signaling pathway GO:0046628 9.16 IGF2 INS
6 regulation of signaling receptor activity GO:0010469 9.02 GAST IGF2 INS SCT SST
7 negative regulation of blood vessel diameter GO:0097756 8.96 CHGA INS

Molecular functions related to Insulinomatosis and Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.16 IGF2 INS
2 hormone activity GO:0005179 9.02 GAST IGF2 INS SCT SST
3 insulin-like growth factor receptor binding GO:0005159 8.96 IGF2 INS

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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