MCID: MTR044
MIFTS: 29

Maturity-Onset Diabetes of the Young, Type 10

Categories: Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Neuronal diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 10

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 10:

Name: Maturity-Onset Diabetes of the Young, Type 10 57 29 13 6 73
Mody10 57 12 75
Diabetes of the Young, Maturity-Onset, Type 10 40
Maturity-Onset Diabetes of the Young Type 10 12
Maturity-Onset Diabetes of the Young 10 75
Mody Type 10 75
Mody-10 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
diagnosed in second or third decade of life
occasionally low-dose insulin required


HPO:

32
maturity-onset diabetes of the young, type 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613370
Disease Ontology 12 DOID:0111108
MedGen 42 C3150617
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 73211009 609561005
UMLS 73 C3150617

Summaries for Maturity-Onset Diabetes of the Young, Type 10

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 10: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 10, also known as mody10, is related to maturity-onset diabetes of the young and diabetes mellitus, insulin-dependent, 2. An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Type II diabetes mellitus. Related phenotypes are diabetes mellitus and maturity-onset diabetes of the young

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the INS gene on chromosome 11p15.5.

Description from OMIM: 613370

Related Diseases for Maturity-Onset Diabetes of the Young, Type 10

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 10:



Diseases related to Maturity-Onset Diabetes of the Young, Type 10

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 10

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus


Clinical features from OMIM:

613370

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 10:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 maturity-onset diabetes of the young 32 HP:0004904

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 10

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 10

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 10

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 10:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 10 29 INS

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 10

Publications for Maturity-Onset Diabetes of the Young, Type 10

Articles related to Maturity-Onset Diabetes of the Young, Type 10:

# Title Authors Year
1
Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. ( 28992123 )
2017

Variations for Maturity-Onset Diabetes of the Young, Type 10

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 10:

75
# Symbol AA change Variation ID SNP ID
1 INS p.Arg6Cys VAR_063721 rs121908278
2 INS p.Arg6His VAR_063722 rs121908259
3 INS p.Arg46Gln VAR_063729 rs121908260

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INS NM_000207.2(INS): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic rs121908278 GRCh37 Chromosome 11, 2182186: 2182186
2 INS NM_000207.2(INS): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic rs121908278 GRCh38 Chromosome 11, 2160956: 2160956
3 INS NM_000207.2(INS): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121908260 GRCh37 Chromosome 11, 2182065: 2182065
4 INS NM_000207.2(INS): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121908260 GRCh38 Chromosome 11, 2160835: 2160835
5 INS NM_000207.2(INS): c.125T> C (p.Val42Ala) single nucleotide variant Likely pathogenic rs886037863 GRCh37 Chromosome 11, 2182077: 2182077
6 INS NM_000207.2(INS): c.125T> C (p.Val42Ala) single nucleotide variant Likely pathogenic rs886037863 GRCh38 Chromosome 11, 2160847: 2160847

Expression for Maturity-Onset Diabetes of the Young, Type 10

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 10.

Pathways for Maturity-Onset Diabetes of the Young, Type 10

Pathways related to Maturity-Onset Diabetes of the Young, Type 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 INS INS-IGF2
2
Show member pathways
10.61 INS INS-IGF2

GO Terms for Maturity-Onset Diabetes of the Young, Type 10

Biological processes related to Maturity-Onset Diabetes of the Young, Type 10 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.54 INS INS-IGF2
2 positive regulation of cell proliferation GO:0008284 9.52 INS INS-IGF2
3 regulation of signaling receptor activity GO:0010469 9.51 INS INS-IGF2
4 regulation of gene expression GO:0010468 9.49 INS INS-IGF2
5 positive regulation of MAPK cascade GO:0043410 9.48 INS INS-IGF2
6 activation of MAPK activity GO:0000187 9.46 INS INS-IGF2
7 glucose homeostasis GO:0042593 9.43 INS INS-IGF2
8 response to organic substance GO:0010033 9.4 INS INS-IGF2
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.37 INS INS-IGF2
10 response to glucose GO:0009749 9.32 INS INS-IGF2
11 response to insulin GO:0032868 9.26 INS INS-IGF2
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.16 INS INS-IGF2
13 response to nutrient levels GO:0031667 8.96 INS INS-IGF2
14 positive regulation of insulin receptor signaling pathway GO:0046628 8.62 INS INS-IGF2

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 INS INS-IGF2
2 insulin receptor binding GO:0005158 9.16 INS INS-IGF2
3 insulin-like growth factor receptor binding GO:0005159 8.96 INS INS-IGF2
4 receptor activator activity GO:0030546 8.62 INS INS-IGF2

Sources for Maturity-Onset Diabetes of the Young, Type 10

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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