MODY6
MCID: MTR023
MIFTS: 38

Maturity-Onset Diabetes of the Young, Type 6 (MODY6)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 6

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 6:

Name: Maturity-Onset Diabetes of the Young, Type 6 56 52 29 6 71
Mody6 56 12 52 73 54
Maturity-Onset Diabetes of the Young 6 56 73 13
Mody Type 6 12 52 73
Maturity-Onset Diabetes of the Young Type 6 12 15
Diabetes of the Young, Maturity-Onset, Type 6 39
Type 6 Maturity-Onset Diabetes of the Young 52
Diabetes Mellitus Mody Type 6 52
Mody Neurod1 Related 52
Mody, Type 6 56
Mody-6 73

Characteristics:

HPO:

31
maturity-onset diabetes of the young, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111104
OMIM 56 606394
MeSH 43 D003924
MedGen 41 C1853371
SNOMED-CT via HPO 68 263681008 609561005
UMLS 71 C1853371

Summaries for Maturity-Onset Diabetes of the Young, Type 6

UniProtKB/Swiss-Prot : 73 Maturity-onset diabetes of the young 6: 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 6, also known as mody6, is related to gestational diabetes and hyperglycemia. An important gene associated with Maturity-Onset Diabetes of the Young, Type 6 is NEUROD1 (Neuronal Differentiation 1), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Related phenotypes are maturity-onset diabetes of the young and shRNA abundance <= 50%

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.

More information from OMIM: 606394

Related Diseases for Maturity-Onset Diabetes of the Young, Type 6

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 gestational diabetes 28.9 KCNJ11 HNF4A HNF1A GCK ABCC8
2 hyperglycemia 28.5 PDX1 PAX4 KCNJ11 HNF4A HNF1A GCK
3 maturity-onset diabetes of the young 27.4 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 KCNJ11
4 maturity-onset diabetes of the young, type 1 27.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
5 maturity-onset diabetes of the young, type 3 26.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
6 maturity-onset diabetes of the young, type 2 26.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
7 type 1 diabetes mellitus 11 10.3 PDX1 NEUROD1
8 alacrima, achalasia, and mental retardation syndrome 10.2
9 hyperinsulinemic hypoglycemia, familial, 6 10.0 GCK ABCC8
10 aminoaciduria 9.9 HNF4A HNF1A
11 acute insulin response 9.9 KCNJ11 ABCC8
12 maturity-onset diabetes of the young, type 14 9.8 PDX1 KLF11 HNF1A GCK
13 donohue syndrome 9.8 KCNJ11 GCK
14 asphyxia neonatorum 9.8 KCNJ11 ABCC8
15 cantu syndrome 9.8 KCNJ11 ABCC8
16 intestinal atresia 9.8 PDX1 GCK
17 cardiomyopathy, dilated, 1o 9.8 KCNJ11 ABCC8
18 hypoglycemia 9.7 KCNJ11 GCK ABCC8
19 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.7 KCNJ11 ABCC8
20 diabetes mellitus, ketosis-prone 9.7 PAX4 KCNJ11 ABCC8
21 munchausen by proxy 9.7 KCNJ11 GCK ABCC8
22 hyperinsulinemic hypoglycemia, familial, 7 9.7 KCNJ11 GCK ABCC8
23 endocrine pancreas disease 9.6 KCNJ11 GCK ABCC8
24 carbohydrate metabolic disorder 9.6 KCNJ11 GCK ABCC8
25 glucose metabolism disease 9.5 KCNJ11 GCK ABCC8
26 hyperinsulinemic hypoglycemia, familial, 2 9.5 KCNJ11 HNF4A ABCC8
27 glucose intolerance 9.5 KCNJ11 HNF1A GCK ABCC8
28 transient neonatal diabetes mellitus 9.3 PDX1 NEUROD1 KCNJ11 GCK ABCC8
29 hyperinsulinism 9.3 KCNJ11 HNF4A GCK ABCC8
30 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.3 KCNJ11 HNF4A HNF1B HNF1A GCK
31 insulinoma 9.2 PDX1 PAX4 NEUROD1 HNF1A GCK ABCC8
32 pancreatic cystadenoma 9.0 PDX1 NKX6-1 NEUROD1 GCK ABCC8
33 body mass index quantitative trait locus 11 9.0 KCNJ11 HNF4A HNF1A GCK ABCC8
34 hyperinsulinemic hypoglycemia 8.9 PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
35 maturity-onset diabetes of the young, type 11 8.8 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
36 pancreatic agenesis 8.7 PDX1 NKX6-1 NEUROD1 KCNJ11 GCK ABCC8
37 diabetes mellitus, insulin-dependent 8.7 PDX1 PAX4 NKX6-1 NEUROD1 HNF4A HNF1A
38 maturity-onset diabetes of the young, type 10 8.6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 GCK
39 rare diabetes mellitus type 2 8.4 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
40 monogenic diabetes 8.2 PDX1 KCNJ11 HNF4A HNF1B HNF1A GCK
41 maturity-onset diabetes of the young, type 13 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
42 diabetes mellitus, permanent neonatal 7.8 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 KCNJ11
43 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 7.8 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
44 diabetes mellitus 7.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
45 renal cysts and diabetes syndrome 7.6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 diabetes mellitus, noninsulin-dependent 7.5 PDX1 PAX4 NKX6-1 NEUROD1 KCNJ11 HNF4A
47 neonatal diabetes mellitus 7.5 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 KCNJ11
48 maturity-onset diabetes of the young, type 7 7.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
49 maturity-onset diabetes of the young, type 9 7.1 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 KCNJ11
50 maturity-onset diabetes of the young, type 4 7.0 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 KCNJ11

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 6:



Diseases related to Maturity-Onset Diabetes of the Young, Type 6

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 6

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 6:

31
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 31 HP:0004904

Clinical features from OMIM:

606394

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.28 BLK CEL GCK HNF1A HNF4A KCNJ11

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 ABCC8 BLK GCK HNF1A HNF1B KCNJ11
2 growth/size/body region MP:0005378 9.81 CEL GCK HNF1A HNF1B HNF4A KCNJ11
3 homeostasis/metabolism MP:0005376 9.73 ABCC8 CEL GCK HNF1A HNF1B HNF4A
4 liver/biliary system MP:0005370 9.1 CEL GCK HNF1A HNF1B HNF4A PDX1

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 6

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 6

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 6

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 6:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 6 29 NEUROD1

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 6

Publications for Maturity-Onset Diabetes of the Young, Type 6

Articles related to Maturity-Onset Diabetes of the Young, Type 6:

(show all 13)
# Title Authors PMID Year
1
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. 56 6
10545951 1999
2
Maturity-Onset Diabetes of the Young Overview 6
29792621 2018
3
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 56
11575290 2001
4
Islet autoimmunity and genetic mutations in Chinese subjects initially thought to have Type 1B diabetes. 54 61
16409568 2006
5
[Etiological dissection in common anti-islet autoantibody-negative patients with type 1 diabetes]. 61 54
15387959 2004
6
Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY). 61
30793219 2019
7
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. 61
28664602 2018
8
Pancreatic beta cells require NeuroD to achieve and maintain functional maturity. 61
20374962 2010
9
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. 61
17327436 2007
10
[Contribution of MODY6 gene in the pathogenesis of familial type 2 diabetes in Chinese population]. 61
16321269 2005
11
Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. 61
16026366 2005
12
Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A. 61
12203996 2002
13
[Diabetes mellitus]. 61
11307309 2001

Variations for Maturity-Onset Diabetes of the Young, Type 6

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 6:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEUROD1 NM_002500.4(NEUROD1):c.616dup (p.His206fs)duplication Pathogenic 7854 rs387906384 2:182542972-182542972 2:181678245-181678245
2 NEUROD1 NM_002500.4(NEUROD1):c.309C>G (p.Arg103=)SNV Pathogenic 218145 rs149703259 2:182543279-182543279 2:181678552-181678552
3 NEUROD1 NM_002500.4(NEUROD1):c.751G>T (p.Ala251Ser)SNV Uncertain significance 635415 2:182542837-182542837 2:181678110-181678110

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 6:

73
# Symbol AA change Variation ID SNP ID
1 NEUROD1 p.Arg103Pro VAR_076552

Expression for Maturity-Onset Diabetes of the Young, Type 6

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 6.

Pathways for Maturity-Onset Diabetes of the Young, Type 6

Pathways related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 PDX1 PAX4 NKX6-1 NEUROD1 HNF4A HNF1B
2
Show member pathways
12.55 PDX1 KCNJ11 GCK ABCC8
3 12.29 PDX1 NKX6-1 NEUROD1 HNF4A HNF1A
4 11.84 PDX1 PAX4 NKX6-1 NEUROD1 HNF1B
5
Show member pathways
11.83 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
6
Show member pathways
11.56 PDX1 PAX4 NKX6-1 NEUROD1 HNF4A HNF1B
7 11.28 PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
8
Show member pathways
11.21 PDX1 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
9 10.93 NKX6-1 NEUROD1
10 10.34 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young, Type 6

Cellular components related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.23 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 PDX1 PAX4 NKX6-1 NEUROD1 HNF4A HNF1A
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 PDX1 NKX6-1 NEUROD1 HNF4A HNF1B HNF1A
3 regulation of transcription by RNA polymerase II GO:0006357 10.02 PDX1 PAX4 NKX6-1 KLF11 HNF4A HNF1B
4 positive regulation of transcription, DNA-templated GO:0045893 9.99 PDX1 NEUROD1 HNF4A HNF1B HNF1A
5 cell differentiation GO:0030154 9.99 PDX1 PAX4 NKX6-1 NEUROD1 HNF4A BLK
6 negative regulation of transcription, DNA-templated GO:0045892 9.95 PDX1 PAX4 KLF11 HNF4A
7 transcription by RNA polymerase II GO:0006366 9.86 PDX1 NKX6-1 KLF11 HNF1A
8 glucose homeostasis GO:0042593 9.83 PDX1 NEUROD1 HNF4A HNF1A GCK
9 animal organ morphogenesis GO:0009887 9.8 PDX1 PAX4 NKX6-1
10 response to drug GO:0042493 9.8 PDX1 PAX4 NKX6-1 NEUROD1 KCNJ11 HNF1B
11 positive regulation of insulin secretion GO:0032024 9.76 PDX1 NKX6-1 GCK BLK
12 liver development GO:0001889 9.75 PDX1 HNF1B HNF1A
13 response to glucose GO:0009749 9.72 PDX1 NEUROD1 HNF4A HNF1B HNF1A
14 glucose metabolic process GO:0006006 9.71 PDX1 KCNJ11 GCK
15 insulin secretion GO:0030073 9.71 PDX1 NEUROD1 HNF1B HNF1A
16 regulation of Wnt signaling pathway GO:0030111 9.65 HNF1B HNF1A
17 negative regulation of insulin secretion GO:0046676 9.64 KCNJ11 ABCC8
18 cellular glucose homeostasis GO:0001678 9.64 GCK ABCC8
19 hindbrain development GO:0030902 9.63 NEUROD1 HNF1B
20 signal transduction involved in regulation of gene expression GO:0023019 9.62 NEUROD1 HNF4A
21 nitric oxide mediated signal transduction GO:0007263 9.61 PDX1 NEUROD1
22 hepatocyte differentiation GO:0070365 9.61 HNF4A HNF1B
23 type B pancreatic cell development GO:0003323 9.6 NKX6-1 HNF4A
24 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.57 HNF1B HNF1A
25 type B pancreatic cell differentiation GO:0003309 9.55 PDX1 NKX6-1
26 pancreas development GO:0031016 9.55 PDX1 PAX4 NKX6-1 HNF1B HNF1A
27 detection of glucose GO:0051594 9.54 PDX1 NKX6-1 GCK
28 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.52 PDX1 NEUROD1
29 regulation of pronephros size GO:0035565 9.49 HNF1B HNF1A
30 endocrine pancreas development GO:0031018 9.35 PDX1 PAX4 NKX6-1 NEUROD1 HNF1A
31 regulation of insulin secretion GO:0050796 9.1 NKX6-1 NEUROD1 KCNJ11 HNF4A GCK ABCC8

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 HNF4A
2 protein heterodimerization activity GO:0046982 9.76 PDX1 NEUROD1 HNF1B HNF1A
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 PDX1 NKX6-1 NEUROD1 HNF4A HNF1A
4 transcription regulatory region DNA binding GO:0044212 9.71 KLF11 HNF4A HNF1B HNF1A
5 DNA-binding transcription factor activity GO:0003700 9.7 PDX1 NKX6-1 NEUROD1 KLF11 HNF4A HNF1B
6 chromatin binding GO:0003682 9.65 PDX1 NKX6-1 NEUROD1 HNF4A HNF1A
7 double-stranded DNA binding GO:0003690 9.61 PAX4 NEUROD1 HNF1A
8 sequence-specific DNA binding GO:0043565 9.5 PDX1 PAX4 NKX6-1 NEUROD1 HNF4A HNF1B
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 PDX1 PAX4 NKX6-1 NEUROD1 KLF11 HNF4A

Sources for Maturity-Onset Diabetes of the Young, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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