MODY10
MCID: MTR044
MIFTS: 41

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological 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 70
Mody10 57 12 72
Maturity-Onset Diabetes of the Young Type 10 12 15
Diabetes of the Young, Maturity-Onset, Type 10 39
Maturity-Onset Diabetes of the Young 10 72
Mody Type 10 72
Mody-10 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
maturity-onset diabetes of the young, type 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111108
OMIM® 57 613370
MeSH 44 D003924
MedGen 41 C3150617
UMLS 70 C3150617

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

UniProtKB/Swiss-Prot : 72 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 hyperglycemia and monogenic diabetes. An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. 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.

More information 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 top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 hyperglycemia 28.0 PDX1 PAX4 KCNJ11 INS HNF4A HNF1B
2 monogenic diabetes 27.5 PDX1 KLF11 KCNJ11 INS-IGF2 INS HNF4A
3 maturity-onset diabetes of the young 26.6 TH PDX1 PAX4 NEUROD1 KLF11 KCNJ11
4 diabetes mellitus 26.6 TH PDX1 PAX4 NEUROD1 KLF11 KCNJ11
5 diabetes mellitus, permanent neonatal, 4 10.3 INS-IGF2 INS
6 hyperproinsulinemia 10.3 INS-IGF2 INS
7 fanconi-bickel syndrome 10.2 INS ABCC8
8 type 1 diabetes mellitus 2 10.1 INS-IGF2 INS
9 type 1 diabetes mellitus 11 10.1 PDX1 NEUROD1
10 cardiomyopathy, dilated, 1o 10.1 KCNJ11 ABCC8
11 autonomic nervous system disease 10.1 TH INS
12 coronary artery vasospasm 10.1 KCNJ11 ABCC8
13 wolfram syndrome 1 10.1 TH KCNJ11 INS
14 cantu syndrome 10.0 KCNJ11 ABCC8
15 stiff-person syndrome 10.0 TH INS
16 renal glucosuria 10.0 INS HNF1B
17 acute insulin response 10.0 KCNJ11 INS ABCC8
18 donohue syndrome 10.0 INS GCK
19 asphyxia neonatorum 10.0 KCNJ11 INS ABCC8
20 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 KCNJ11 INS ABCC8
21 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
22 retinal detachment 9.9
23 diabetes mellitus, ketosis-prone 9.9 PAX4 KCNJ11 INS ABCC8
24 intestinal atresia 9.8 PDX1 GCK
25 munchausen by proxy 9.8 KCNJ11 GCK ABCC8
26 hyperinsulinemic hypoglycemia, familial, 7 9.8 KCNJ11 GCK ABCC8
27 hyperinsulinemic hypoglycemia, familial, 6 9.8 KCNJ11 GCK ABCC8
28 umbilical hernia 9.8 KCNJ11 ABCC8
29 wolfram syndrome 9.8 TH KCNJ11 INS GCK
30 beckwith-wiedemann syndrome 9.7 TH KCNJ11 INS-IGF2 INS ABCC8
31 hypoglycemia 9.7 KCNJ11 INS GCK ABCC8
32 factitious disorder 9.7 KCNJ11 INS GCK ABCC8
33 glucose metabolism disease 9.7 KCNJ11 INS GCK ABCC8
34 prediabetes syndrome 9.6 INS HNF4A GCK
35 hyperinsulinemic hypoglycemia, familial, 2 9.6 KCNJ11 INS HNF4A ABCC8
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.6 INS HNF4A GCK
37 glucose intolerance 9.5 NEUROD1 KCNJ11 INS GCK ABCC8
38 pancreatic cystadenoma 9.5 PDX1 NEUROD1 INS GCK ABCC8
39 maturity-onset diabetes of the young, type 14 9.4 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
40 diabetes mellitus, permanent neonatal, 1 9.3 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
41 insulinoma 9.3 PDX1 PAX4 NEUROD1 INS GCK ABCC8
42 transient neonatal diabetes mellitus 9.3 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
43 gestational diabetes 9.2 KCNJ11 INS HNF4A GCK ABCC8
44 hyperinsulinism 9.2 KCNJ11 INS HNF4A GCK ABCC8
45 body mass index quantitative trait locus 11 9.2 KCNJ11 INS HNF4A GCK ABCC8
46 type 1 diabetes mellitus 9.1 PDX1 PAX4 NEUROD1 INS HNF4A GCK
47 hyperinsulinemic hypoglycemia 9.0 PDX1 KCNJ11 INS HNF4A GCK ABCC8
48 neonatal diabetes 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 INS-IGF2
49 maturity-onset diabetes of the young, type 13 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
50 pancreatic agenesis 8.4 PDX1 PAX4 NEUROD1 KCNJ11 INS HNF4A

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

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

31
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 HP:0001511
2 hyperglycemia 31 HP:0003074
3 diabetic ketoacidosis 31 HP:0001953
4 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
diabetes mellitus

Clinical features from OMIM®:

613370 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.11 ABCC8 BLK GCK HNF1B HNF4A INS
2 homeostasis/metabolism MP:0005376 10.07 ABCC8 BLK CEL GCK HNF1B HNF4A
3 growth/size/body region MP:0005378 10.06 ABCC8 CEL GCK HNF1B HNF4A INS
4 liver/biliary system MP:0005370 9.7 CEL GCK HNF1B HNF4A INS PDX1
5 normal MP:0002873 9.5 BLK HNF4A INS KLF11 PAX4 PDX1
6 renal/urinary system MP:0005367 9.17 GCK HNF1B HNF4A INS NEUROD1 PDX1

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:

(show all 12)
# Title Authors PMID Year
1
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 6 57
18192540 2008
2
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 57 6
18162506 2008
3
INS-gene mutations: from genetics and beta cell biology to clinical disease. 6
25542748 2015
4
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). 6
20226046 2010
5
Insulin gene mutations as a cause of permanent neonatal diabetes. 6
17855560 2007
6
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review. 61
32763092 2021
7
Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family. 61
32405973 2020
8
A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families. 61
32252216 2020
9
[Analysis of INS gene variant in a juvenile with maturity-onset diabetes of the young type 10]. 61
32034745 2020
10
MODY10 caused by c.309-314del CCAGCT insGCGC mutation of the insulin gene: a case report. 61
33194056 2020
11
Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. 61
28992123 2017
12
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. 61
27035557 2016

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

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

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INS-IGF2 , INS NM_000207.3(INS):c.155C>T (p.Pro52Leu) SNV Pathogenic 931331 GRCh37: 11:2182047-2182047
GRCh38: 11:2160817-2160817
2 INS-IGF2 , INS NM_000207.3(INS):c.137G>A (p.Arg46Gln) SNV Pathogenic 13391 rs121908260 GRCh37: 11:2182065-2182065
GRCh38: 11:2160835-2160835
3 INS-IGF2 , INS NM_000207.3(INS):c.16C>T (p.Arg6Cys) SNV Pathogenic 13390 rs121908278 GRCh37: 11:2182186-2182186
GRCh38: 11:2160956-2160956
4 INS-IGF2 , INS NM_000207.3(INS):c.290C>G (p.Thr97Ser) SNV Likely pathogenic 617648 rs1564911425 GRCh37: 11:2181125-2181125
GRCh38: 11:2159895-2159895
5 INS-IGF2 , INS NM_000207.3(INS):c.125T>C (p.Val42Ala) SNV Likely pathogenic 253331 rs886037863 GRCh37: 11:2182077-2182077
GRCh38: 11:2160847-2160847
6 INS-IGF2 , INS NM_000207.3(INS):c.*42C>T SNV Uncertain significance 304049 rs376867722 GRCh37: 11:2181040-2181040
GRCh38: 11:2159810-2159810
7 INS-IGF2 , INS NM_000207.3(INS):c.*28G>A SNV Uncertain significance 304050 rs778107057 GRCh37: 11:2181054-2181054
GRCh38: 11:2159824-2159824
8 INS-IGF2 , INS NM_000207.3(INS):c.25C>T (p.Pro9Ser) SNV Uncertain significance 304058 rs372122432 GRCh37: 11:2182177-2182177
GRCh38: 11:2160947-2160947
9 INS-IGF2 , INS NM_000207.3(INS):c.-18+3C>G SNV Uncertain significance 304061 rs886048112 GRCh37: 11:2182395-2182395
GRCh38: 11:2161165-2161165
10 INS-IGF2 , INS NM_000207.3(INS):c.188-3C>A SNV Uncertain significance 304053 rs886048111 GRCh37: 11:2181230-2181230
GRCh38: 11:2160000-2160000
11 INS-IGF2 , INS NM_000207.3(INS):c.*2C>T SNV Uncertain significance 304052 rs200306755 GRCh37: 11:2181080-2181080
GRCh38: 11:2159850-2159850
12 INS-IGF2 , INS NM_000207.3(INS):c.187+15C>A SNV Uncertain significance 878501 GRCh37: 11:2182000-2182000
GRCh38: 11:2160770-2160770
13 TH , INS-IGF2 , INS NM_000207.3(INS):c.*9C>T SNV Likely benign 255531 rs3842752 GRCh37: 11:2181073-2181073
GRCh38: 11:2159843-2159843
14 INS-IGF2 , INS NM_000207.3(INS):c.72C>A (p.Ala24=) SNV Likely benign 880304 GRCh37: 11:2182130-2182130
GRCh38: 11:2160900-2160900
15 INS-IGF2 , INS NM_000207.3(INS):c.153A>G (p.Thr51=) SNV Likely benign 304054 rs773789432 GRCh37: 11:2182049-2182049
GRCh38: 11:2160819-2160819
16 INS-IGF2 , INS NM_000207.3(INS):c.130G>A (p.Gly44Arg) SNV Likely benign 304055 rs765512575 GRCh37: 11:2182072-2182072
GRCh38: 11:2160842-2160842
17 INS-IGF2 , INS NM_000207.3(INS):c.67G>A (p.Ala23Thr) SNV Benign 730224 rs13306444 GRCh37: 11:2182135-2182135
GRCh38: 11:2160905-2160905
18 INS-IGF2 , INS NM_000207.3(INS):c.188-10G>A SNV Benign 129279 rs41275198 GRCh37: 11:2181237-2181237
GRCh38: 11:2160007-2160007
19 TH , INS-IGF2 , INS NM_000207.3(INS):c.-9C>T SNV Benign 36399 rs5505 GRCh37: 11:2182210-2182210
GRCh38: 11:2160980-2160980
20 TH , INS-IGF2 , INS NM_000207.3(INS):c.36G>A (p.Ala12=) SNV Benign 304057 rs3842744 GRCh37: 11:2182166-2182166
GRCh38: 11:2160936-2160936
21 TH , INS-IGF2 , INS NM_000207.3(INS):c.187+11T>C SNV Benign 255532 rs5506 GRCh37: 11:2182004-2182004
GRCh38: 11:2160774-2160774
22 TH , INS-IGF2 , INS NM_000207.3(INS):c.-17-6T>A SNV Benign 304059 rs689 GRCh37: 11:2182224-2182224
GRCh38: 11:2160994-2160994
23 TH , INS-IGF2 , INS NM_000207.3(INS):c.*22A>C SNV Benign 304051 rs3842753 GRCh37: 11:2181060-2181060
GRCh38: 11:2159830-2159830
24 INS-IGF2 , INS NM_000207.3(INS):c.17G>A (p.Arg6His) SNV not provided 68727 rs121908259 GRCh37: 11:2182185-2182185
GRCh38: 11:2160955-2160955

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

72
# 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

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
13.12 PDX1 PAX4 NEUROD1 INS HNF4A HNF1B
2
Show member pathways
12.57 PDX1 KCNJ11 INS GCK ABCC8
3 12.22 PDX1 NEUROD1 INS HNF4A
4 11.86 TH NEUROD1 GCK
5 11.84 PDX1 PAX4 NEUROD1 INS HNF1B
6
Show member pathways
11.83 PDX1 NEUROD1 INS HNF4A HNF1B GCK
7
Show member pathways
11.5 PDX1 PAX4 NEUROD1 INS HNF4A HNF1B
8 11.28 PDX1 KCNJ11 INS HNF4A GCK ABCC8
9
Show member pathways
11.26 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS HNF4A
10 11.02 TH BLK
11 10.97 TH NEUROD1
12 10.76 TH INS

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

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.43 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.1 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 cell differentiation GO:0030154 10.02 PDX1 PAX4 NEUROD1 HNF4A BLK
3 animal organ morphogenesis GO:0009887 9.79 TH PDX1 PAX4
4 response to organic cyclic compound GO:0014070 9.77 TH PDX1 HNF1B
5 response to glucose GO:0009749 9.7 PDX1 NEUROD1 HNF4A
6 cellular response to glucose stimulus GO:0071333 9.69 TH NEUROD1 KCNJ11
7 positive regulation of cell differentiation GO:0045597 9.65 PAX4 NEUROD1 INS
8 glucose homeostasis GO:0042593 9.65 PDX1 NEUROD1 INS HNF4A GCK
9 response to nicotine GO:0035094 9.64 TH PDX1
10 response to zinc ion GO:0010043 9.63 TH ABCC8
11 positive regulation of insulin secretion GO:0032024 9.63 PDX1 GCK BLK
12 negative regulation of insulin secretion GO:0046676 9.62 KCNJ11 ABCC8
13 glucose metabolic process GO:0006006 9.62 PDX1 KCNJ11 INS GCK
14 cellular glucose homeostasis GO:0001678 9.61 GCK ABCC8
15 signal transduction involved in regulation of gene expression GO:0023019 9.6 NEUROD1 HNF4A
16 negative regulation of gluconeogenesis GO:0045721 9.58 INS GCK
17 nitric oxide mediated signal transduction GO:0007263 9.58 PDX1 NEUROD1
18 insulin secretion GO:0030073 9.58 PDX1 NEUROD1 HNF1B
19 inorganic cation transmembrane transport GO:0098662 9.57 KCNJ11 ABCC8
20 positive regulation of glycogen biosynthetic process GO:0045725 9.56 INS GCK
21 hepatocyte differentiation GO:0070365 9.55 HNF4A HNF1B
22 cellular response to nicotine GO:0071316 9.54 TH KCNJ11
23 pancreas development GO:0031016 9.54 PDX1 PAX4 HNF1B
24 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.49 PDX1 NEUROD1
25 endocrine pancreas development GO:0031018 9.46 PDX1 PAX4 NEUROD1 HNF1B
26 detection of glucose GO:0051594 9.43 PDX1 GCK
27 regulation of insulin secretion GO:0050796 9.35 NEUROD1 KCNJ11 HNF4A GCK ABCC8
28 response to drug GO:0042493 9.17 TH PDX1 PAX4 NEUROD1 KCNJ11 HNF1B

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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 sequence-specific DNA binding GO:0043565 9.71 PDX1 NEUROD1 HNF4A HNF1B
3 DNA-binding transcription factor activity GO:0003700 9.65 PDX1 NEUROD1 KLF11 HNF4A HNF1B
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
5 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
6 sequence-specific double-stranded DNA binding GO:1990837 9.35 PDX1 PAX4 NEUROD1 KLF11 HNF4A
7 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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