MODY10
MCID: MTR044
MIFTS: 41

Maturity-Onset Diabetes of the Young, Type 10 (MODY10)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare 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
Maturity-Onset Diabetes of the Young Type 10 12 15
Diabetes of the Young, Maturity-Onset, Type 10 40
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
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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include liver and pancreas, and related phenotypes are intrauterine growth retardation and hyperglycemia

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

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 31.2 FOXM1 INS INS-IGF2 KCNJ11
2 diabetes mellitus, insulin-dependent, 2 10.2 INS INS-IGF2
3 type 1 diabetes mellitus 2 10.2 INS INS-IGF2
4 segawa syndrome, autosomal recessive 10.2 INS INS-IGF2
5 hyperproinsulinemia 10.2 INS INS-IGF2
6 lipodystrophy, familial partial, type 1 10.1 INS PPARG
7 complete generalized lipodystrophy 10.1 INS PPARG
8 abdominal obesity-metabolic syndrome 1 10.1 INS PPARG
9 idiopathic edema 10.1 INS PPARG
10 prediabetes syndrome 10.1 INS PPARG
11 maturity-onset diabetes of the young, type 9 10.1 FOXM1 INS
12 familial partial lipodystrophy 10.1 INS PPARG
13 metaphyseal chondrodysplasia, schmid type 10.1 ATF6 XBP1
14 pancreatic cystadenoma 10.1 FOXM1 INS
15 gastrointestinal system benign neoplasm 10.0 FOXM1 INS
16 maturity-onset diabetes of the young, type 6 10.0 FOXM1 INS
17 acquired generalized lipodystrophy 10.0 INS PPARG
18 acute insulin response 10.0 INS KCNJ11
19 maturity-onset diabetes of the young, type 13 10.0 INS KCNJ11
20 acanthosis nigricans 10.0 INS PPARG
21 endocrine pancreas disease 10.0 INS KCNJ11
22 pancreas disease 10.0 INS KCNJ11
23 pancreatic agenesis 10.0 INS KCNJ11
24 fatty liver disease 10.0 ATF4 INS XBP1
25 alstrom syndrome 9.9 INS KCNJ11
26 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 INS PPARG
27 monogenic diabetes 9.9 INS KCNJ11
28 thiamine-responsive megaloblastic anemia syndrome 9.9 INS KCNJ11
29 diabetes mellitus, transient neonatal, 1 9.9 INS KCNJ11
30 neonatal diabetes mellitus 9.9 GLIS3 INS KCNJ11
31 maturity-onset diabetes of the young, type 1 9.8 INS KCNJ11 PPARG
32 glucose metabolism disease 9.8 INS KCNJ11 PPARG
33 acquired metabolic disease 9.8 INS KCNJ11 PPARG
34 hyperglycemia 9.8 INS KCNJ11 PPARG
35 hyperinsulinemic hypoglycemia 9.8 INS KCNJ11
36 diabetes mellitus, permanent neonatal 9.7 GLIS3 INS INS-IGF2 KCNJ11
37 diabetes mellitus 9.6 GLIS3 INS INS-IGF2 KCNJ11 PPARG

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 intrauterine growth retardation 32 HP:0001511
2 hyperglycemia 32 HP:0003074
3 maturity-onset diabetes of the young 32 HP:0004904
4 diabetic ketoacidosis 32 HP:0001953

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 KCNJ11
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.66 INS-IGF2 KCNJ11 XBP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.66 KCNJ11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.66 XBP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.66 INS-IGF2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.66 XBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 KCNJ11 XBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.66 XBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 KCNJ11
10 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.66 XBP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.66 INS-IGF2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.66 XBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.66 INS-IGF2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 INS-IGF2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.66 XBP1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.66 INS-IGF2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.66 KCNJ11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.66 INS-IGF2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.66 KCNJ11

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 10:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.03 ATF4 ATF6 FOXM1 GLIS3 INS KCNJ11
2 cellular MP:0005384 10 ATF4 ATF6 FOXM1 GLIS3 INS PPARG
3 homeostasis/metabolism MP:0005376 9.97 ATF4 ATF6 FOXM1 GLIS3 INS KCNJ11
4 cardiovascular system MP:0005385 9.95 ATF4 FOXM1 INS KCNJ11 PPARG XBP1
5 growth/size/body region MP:0005378 9.95 ATF4 ATF6 GLIS3 INS KCNJ11 PPARG
6 adipose tissue MP:0005375 9.8 ATF4 INS KCNJ11 PPARG
7 mortality/aging MP:0010768 9.76 ATF4 ATF6 FOXM1 GLIS3 INS KCNJ11
8 liver/biliary system MP:0005370 9.73 ATF4 ATF6 FOXM1 INS PPARG XBP1
9 integument MP:0010771 9.72 ATF4 INS KCNJ11 PPARG XBP1
10 muscle MP:0005369 9.43 ATF4 FOXM1 INS KCNJ11 PPARG XBP1
11 no phenotypic analysis MP:0003012 9.02 ATF6 GLIS3 INS KCNJ11 PPARG

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

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 10:

41
Liver, Pancreas

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.17G> A (p.Arg6His) single nucleotide variant not provided rs121908259 GRCh37 Chromosome 11, 2182185: 2182185
6 INS NM_000207.2(INS): c.17G> A (p.Arg6His) single nucleotide variant not provided rs121908259 GRCh38 Chromosome 11, 2160955: 2160955
7 INS NM_000207.2(INS): c.125T> C (p.Val42Ala) single nucleotide variant Likely pathogenic rs886037863 GRCh37 Chromosome 11, 2182077: 2182077
8 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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 ATF4 ATF6 INS PPARG XBP1
2
Show member pathways
12.02 INS INS-IGF2 PPARG
3
Show member pathways
11.95 ATF4 ATF6 XBP1
4 11.95 ATF4 ATF6 INS PPARG
5 11.76 ATF4 ATF6 XBP1
6
Show member pathways
11.68 ATF4 INS PPARG
7
Show member pathways
11.42 INS INS-IGF2 KCNJ11
8
Show member pathways
11.27 ATF4 ATF6
9
Show member pathways
11.14 INS XBP1
10 11.1 INS KCNJ11
11 11 ATF6 INS PPARG
12 10.26 ATF4 ATF6 XBP1

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 15)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.73 ATF4 ATF6 GLIS3 XBP1
2 positive regulation of apoptotic process GO:0043065 9.7 ATF4 ATF6 PPARG
3 regulation of transcription, DNA-templated GO:0006355 9.63 ATF4 ATF6 FOXM1 INS PPARG XBP1
4 cellular response to glucose stimulus GO:0071333 9.55 KCNJ11 XBP1
5 glucose metabolic process GO:0006006 9.54 INS KCNJ11
6 positive regulation of fat cell differentiation GO:0045600 9.51 PPARG XBP1
7 endoplasmic reticulum unfolded protein response GO:0030968 9.49 ATF6 XBP1
8 cellular response to glucose starvation GO:0042149 9.48 ATF4 XBP1
9 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.46 ATF4 XBP1
10 fatty acid homeostasis GO:0055089 9.4 INS XBP1
11 positive regulation of vascular associated smooth muscle cell apoptotic process GO:1905461 9.37 ATF4 PPARG
12 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.32 ATF4 ATF6
13 ATF6-mediated unfolded protein response GO:0036500 9.26 ATF6 XBP1
14 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 ATF4 ATF6 FOXM1 GLIS3 PPARG XBP1
15 negative regulation of acute inflammatory response GO:0002674 8.96 INS PPARG

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 DNA binding GO:0003677 9.85 ATF4 ATF6 FOXM1 GLIS3 PPARG XBP1
2 DNA-binding transcription factor activity GO:0003700 9.65 ATF4 ATF6 FOXM1 PPARG XBP1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 ATF4 ATF6 FOXM1 GLIS3 PPARG XBP1
4 protein heterodimerization activity GO:0046982 9.62 ATF4 ATF6 PPARG XBP1
5 protein C-terminus binding GO:0008022 9.58 ATF4 KCNJ11 PPARG
6 sequence-specific DNA binding GO:0043565 9.35 ATF4 ATF6 FOXM1 PPARG XBP1
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.02 ATF4 ATF6 FOXM1 PPARG XBP1

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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