MODY7
MCID: MTR024
MIFTS: 42

Maturity-Onset Diabetes of the Young, Type 7 (MODY7)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 7

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 7:

Name: Maturity-Onset Diabetes of the Young, Type 7 58 54 30 6 74
Mody7 58 12 54 76
Maturity-Onset Diabetes of the Young, Type Vii 58 13
Maturity-Onset Diabetes of the Young Type 7 12 15
Mody Type 7 54 76
Diabetes of the Young, Maturity-Onset, Type 7 41
Type 7 Maturity-Onset Diabetes of the Young 54
Maturity-Onset Diabetes of the Young 7 76
Diabetes Mellitus Mody Type 7 54
Mody Klf11 Related 54
Mody-7 76

Characteristics:

HPO:

33
maturity-onset diabetes of the young, type 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111106
OMIM 58 610508
MeSH 45 D003924
MedGen 43 C1864839
SNOMED-CT via HPO 70 263681008 44054006 609561005
UMLS 74 C1864839

Summaries for Maturity-Onset Diabetes of the Young, Type 7

UniProtKB/Swiss-Prot : 76 Maturity-onset diabetes of the young 7: 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 7, also known as mody7, is related to maturity-onset diabetes of the young and maturity-onset diabetes of the young, type 4. An important gene associated with Maturity-Onset Diabetes of the Young, Type 7 is KLF11 (Kruppel Like Factor 11), and among its related pathways/superpathways are Developmental Biology and Glucose / Energy Metabolism. Affiliated tissues include pancreatic islet, liver and pancreas, and related phenotypes are type ii 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 KLF11 gene on chromosome 2p25.

Description from OMIM: 610508

Related Diseases for Maturity-Onset Diabetes of the Young, Type 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 30.5 GCK HNF1A HNF1B HNF4A INS ISL1
2 maturity-onset diabetes of the young, type 4 29.9 GCK HMX1 HNF1A HNF1B HNF4A PDX1
3 intestinal neuroendocrine benign tumor 10.3 HMX1 SCT
4 small intestine neuroendocrine neoplasm 10.3 HMX1 SCT
5 pancreatic agenesis 1 10.3 PDX1 SCT
6 maturity-onset diabetes of the young, type 14 10.3 GCK HNF1A
7 biliary dyskinesia 10.2 CCK SCT
8 charcot-marie-tooth disease, dominant intermediate f 10.2 GNA11 GNA15
9 duodenal gastrinoma 10.2 CCK HMX1 SCT
10 exocrine pancreatic insufficiency 10.2 CCK PDX1 SCT
11 duodenal atresia 10.2 HNF1B SCT
12 type 1 diabetes mellitus 7 10.1 INS NEUROD1
13 lymphocytic vasculitis 10.1 SELE VCAM1
14 diabetes mellitus, permanent neonatal 10.1 GCK INS PDX1
15 mooren's ulcer 10.0 SELE VCAM1
16 type 1 diabetes mellitus 11 10.0 HNF1A INS
17 insulinomatosis and diabetes mellitus 10.0 INS SCT
18 duodenogastric reflux 10.0 CCK SCT
19 hyperinsulinemic hypoglycemia 10.0 GCK HNF4A INS
20 autosomal genetic disease 10.0 GCK HNF1A INS
21 pancreatic agenesis 10.0 GCK HMX1 INS PDX1
22 hyperinsulinism 9.9 GCK HNF4A INS
23 brachydactyly, type e2 9.9 GNA11 GNA15 VCAM1
24 duodenal ulcer 9.9 CCK INS SCT
25 pancreas disease 9.9 CCK INS SCT
26 hyperproinsulinemia 9.9 INS SCT
27 insulinoma 9.9 GCK INS PDX1 SCT
28 hyperglycemia 9.9 GCK HNF1A INS PDX1
29 gestational diabetes 9.9 CAPN10 GCK HNF4A INS
30 gastrointestinal system disease 9.9 CCK INS SCT
31 renal cysts and diabetes syndrome 9.8 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1
32 arteries, anomalies of 9.7 INS SELE VCAM1
33 proteasome-associated autoinflammatory syndrome 1 9.7 INS SELE VCAM1
34 subendocardial myocardial infarction 9.7 SELE VCAM1
35 monogenic diabetes 9.7 GCK HNF1A HNF4A INS PDX1
36 atherosclerosis susceptibility 9.7 INS SELE VCAM1
37 neonatal diabetes mellitus 9.7 GCK HNF1B INS KLF11 NEUROD1 PDX1
38 arteriosclerosis 9.6 INS SELE VCAM1
39 cerebrovascular disease 9.6 INS SELE VCAM1
40 maturity-onset diabetes of the young, type 13 9.6 GCK HNF1A HNF4A INS KLF11 NEUROD1
41 body mass index quantitative trait locus 11 9.6 CAPN10 CCK GCK INS SELE
42 maturity-onset diabetes of the young, type 2 9.5 GCK HNF1A HNF1B HNF4A INS PDX1
43 maturity-onset diabetes of the young, type 3 9.4 GCK HNF1A HNF1B HNF4A INS NEUROD1
44 maturity-onset diabetes of the young, type 1 9.3 CAPN10 GCK HNF1A HNF1B HNF4A INS
45 diabetes mellitus 9.1 CAPN10 GCK HNF1A HNF1B HNF4A INS
46 maturity-onset diabetes of the young, type 6 9.1 CAPN10 GCK HNF1A HNF1B HNF4A INS
47 diabetes mellitus, noninsulin-dependent 8.7 CAPN10 GCK HNF1A HNF1B HNF4A INS

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 7:



Diseases related to Maturity-Onset Diabetes of the Young, Type 7

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 7

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 7:

33
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 33 HP:0005978
2 maturity-onset diabetes of the young 33 HP:0004904

Clinical features from OMIM:

610508

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 7:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CAPN10 EP300 GCK GNA11 HMX1 HNF1A
2 homeostasis/metabolism MP:0005376 10.25 CAPN10 CCK EP300 GCK GNA11 HNF1A
3 endocrine/exocrine gland MP:0005379 10.2 CAPN10 CCK EP300 GCK GNA11 HNF1A
4 cellular MP:0005384 10.18 EP300 HMX1 HNF1A HNF4A INS ISL1
5 mortality/aging MP:0010768 10.13 EP300 GCK GNA11 HMX1 HNF1A HNF1B
6 liver/biliary system MP:0005370 10.02 CAPN10 GCK GNA11 HNF1A HNF1B HNF4A
7 muscle MP:0005369 9.8 EP300 GNA11 HNF1A HNF1B INS ISL1
8 no phenotypic analysis MP:0003012 9.7 CCK HMX1 HNF1A INS ISL1 PDX1
9 normal MP:0002873 9.61 EP300 GNA11 GNA15 HNF4A INS ISL1
10 renal/urinary system MP:0005367 9.36 CAPN10 CCK EP300 GCK GNA11 HNF1A

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 7

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 7

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 7

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 7:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 7 30 KLF11

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 7

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 7:

42
Pancreatic Islet, Liver, Pancreas, Small Intestine

Publications for Maturity-Onset Diabetes of the Young, Type 7

Articles related to Maturity-Onset Diabetes of the Young, Type 7:

# Title Authors Year
1
MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells. ( 19843526 )
2009
2
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. ( 15774581 )
2005

Variations for Maturity-Onset Diabetes of the Young, Type 7

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 7:

76
# Symbol AA change Variation ID SNP ID
1 KLF11 p.Thr220Met VAR_031523 rs34336420
2 KLF11 p.Ala347Ser VAR_031524 rs121912645

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLF11 NM_003597.4(KLF11): c.1039G> T (p.Ala347Ser) single nucleotide variant Pathogenic rs121912645 GRCh37 Chromosome 2, 10188503: 10188503
2 KLF11 NM_003597.4(KLF11): c.1039G> T (p.Ala347Ser) single nucleotide variant Pathogenic rs121912645 GRCh38 Chromosome 2, 10048376: 10048376
3 KLF11 NM_003597.4(KLF11): c.659C> T (p.Thr220Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34336420 GRCh37 Chromosome 2, 10188123: 10188123
4 KLF11 NM_003597.4(KLF11): c.659C> T (p.Thr220Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34336420 GRCh38 Chromosome 2, 10047996: 10047996

Expression for Maturity-Onset Diabetes of the Young, Type 7

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 7.

Pathways for Maturity-Onset Diabetes of the Young, Type 7

Pathways related to Maturity-Onset Diabetes of the Young, Type 7 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 EP300 GCK HNF1A HNF1B HNF4A INS
2 12.34 HNF1A HNF4A INS NEUROD1 PDX1
3
Show member pathways
12.25 GNA11 GNA15 HNF1A HNF1B HNF4A
4 12.16 GNA11 GNA15 HNF1A HNF1B HNF4A
5 11.92 HNF1B INS ISL1 NEUROD1 PDX1 VCAM1
6
Show member pathways
11.8 GNA11 GNA15 HNF1A HNF1B HNF4A
7
Show member pathways
11.79 GCK HNF1A HNF1B HNF4A INS NEUROD1
8 11.53 EP300 GCK HNF4A
9
Show member pathways
11.5 GCK HNF1A HNF1B HNF4A INS NEUROD1
10 11.41 EP300 INS SELE
11 11.36 GNA11 HNF4A ISL1 NEUROD1
12 11.3 GCK HNF1A HNF4A INS PDX1
13
Show member pathways
11.21 GCK HNF1A HNF1B HNF4A INS ISL1
14 10.45 HNF1A HNF4A
15 10.37 CCK SCT

GO Terms for Maturity-Onset Diabetes of the Young, Type 7

Biological processes related to Maturity-Onset Diabetes of the Young, Type 7 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 EP300 HNF1A HNF1B HNF4A NEUROD1 PDX1
2 liver development GO:0001889 9.77 HNF1A HNF1B PDX1
3 glucose metabolic process GO:0006006 9.75 GCK INS PDX1
4 positive regulation of cell differentiation GO:0045597 9.69 INS ISL1 NEUROD1
5 positive regulation of insulin secretion GO:0032024 9.67 CAPN10 GCK ISL1
6 response to glucose GO:0009749 9.67 HNF1A HNF1B HNF4A NEUROD1
7 innervation GO:0060384 9.64 ISL1 VCAM1
8 hindbrain development GO:0030902 9.64 HNF1B NEUROD1
9 signal transduction involved in regulation of gene expression GO:0023019 9.63 HNF4A NEUROD1
10 leukocyte tethering or rolling GO:0050901 9.63 SELE VCAM1
11 nitric oxide mediated signal transduction GO:0007263 9.62 NEUROD1 PDX1
12 positive regulation of glycogen biosynthetic process GO:0045725 9.62 GCK INS
13 negative regulation of gluconeogenesis GO:0045721 9.61 GCK INS
14 hepatocyte differentiation GO:0070365 9.61 HNF1B HNF4A
15 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.59 HNF1A HNF1B
16 endocrine pancreas development GO:0031018 9.58 HNF1A NEUROD1 PDX1
17 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.57 GNA11 GNA15
18 regulation of insulin secretion GO:0050796 9.56 GCK HNF1A HNF4A NEUROD1
19 negative regulation of protein oligomerization GO:0032460 9.55 EP300 INS
20 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.54 NEUROD1 PDX1
21 transcription by RNA polymerase II GO:0006366 9.5 HNF1A KLF11 PDX1
22 detection of glucose GO:0051594 9.46 GCK PDX1
23 insulin secretion GO:0030073 9.46 HNF1A HNF1B NEUROD1 PDX1
24 regulation of pronephros size GO:0035565 9.43 HNF1A HNF1B
25 pancreas development GO:0031016 9.26 HNF1A HNF1B ISL1 PDX1
26 glucose homeostasis GO:0042593 9.1 GCK HNF1A HNF4A INS NEUROD1 PDX1
27 regulation of transcription, DNA-templated GO:0006355 10.13 EP300 HMX1 HNF1A HNF4A INS ISL1
28 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 EP300 HNF1A HNF1B HNF4A ISL1 NEUROD1
29 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 EP300 HMX1 HNF1B ISL1 KLF11 PDX1

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 7 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.91 HNF1A HNF1B HNF4A KLF11 NEUROD1 PDX1
2 DNA binding GO:0003677 9.91 EP300 HMX1 HNF1A HNF1B HNF4A ISL1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 EP300 HNF1A HNF4A ISL1 PDX1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 HMX1 HNF1A HNF1B HNF4A ISL1 KLF11
5 transcription regulatory region DNA binding GO:0044212 9.71 HNF1A HNF1B HNF4A KLF11
6 hormone activity GO:0005179 9.63 CCK INS SCT
7 G protein-coupled receptor binding GO:0001664 9.5 GNA11 GNA15 SCT
8 sequence-specific DNA binding GO:0043565 9.5 HMX1 HNF1A HNF1B HNF4A ISL1 NEUROD1
9 G-protein beta/gamma-subunit complex binding GO:0031683 9.49 GNA11 GNA15
10 guanyl nucleotide binding GO:0019001 9.48 GNA11 GNA15
11 RNA polymerase II activating transcription factor binding GO:0001102 8.92 EP300 HNF4A ISL1 NEUROD1

Sources for Maturity-Onset Diabetes of the Young, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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