MODY6
MCID: MTR023
MIFTS: 41

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 57 53 29 6 73
Mody6 57 12 53 75 55
Maturity-Onset Diabetes of the Young 6 57 75 13
Mody Type 6 12 53 75
Maturity-Onset Diabetes of the Young Type 6 12 15
Diabetes of the Young, Maturity-Onset, Type 6 40
Type 6 Maturity-Onset Diabetes of the Young 53
Diabetes Mellitus Mody Type 6 53
Mody Neurod1 Related 53
Mody, Type 6 57
Mody-6 75

Characteristics:

HPO:

32
maturity-onset diabetes of the young, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606394
Disease Ontology 12 DOID:0111104
MedGen 42 C1853371
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005
UMLS 73 C1853371

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

UniProtKB/Swiss-Prot : 75 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 maturity-onset diabetes of the young and gestational diabetes. 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 Glucose / Energy Metabolism. Affiliated tissues include liver, pancreas and t cells, and 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.

Description 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 40)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 30.4 CEL FOXM1 GCK HNF1A HNF1B HNF4A
2 gestational diabetes 29.5 CAPN10 GCK HNF4A INS PTPRN
3 diabetes mellitus 28.8 CAPN10 CPE GCK HNF1A HNF1B HNF4A
4 maturity-onset diabetes of the young, type 14 10.2 GCK HNF1A
5 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.2 CEL HNF4A
6 intestinal atresia 10.1 GCK PDX1
7 hermansky-pudlak syndrome 5 10.0 HNF1B LDHA
8 type 1 diabetes mellitus 11 10.0 HNF1A INS
9 maturity-onset diabetes of the young, type 4 10.0 GCK HNF1A HNF1B HNF4A PDX1
10 hyperproinsulinemia 9.9 CPE INS
11 hyperinsulinemic hypoglycemia, familial, 7 9.9 INS LDHA
12 pancreatic agenesis 9.9 GCK INS PDX1
13 diabetes mellitus, permanent neonatal 9.9 GCK INS PDX1
14 autosomal genetic disease 9.9 GCK HNF1A INS
15 fanconi-bickel syndrome 9.9 INS LDHA
16 hyperinsulinemic hypoglycemia 9.9 GCK HNF4A INS
17 maturity-onset diabetes of the young, type 9 9.9 FOXM1 INS
18 renal cysts and diabetes syndrome 9.9 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1
19 hyperinsulinism 9.9 GCK HNF4A INS
20 type 1 diabetes mellitus 7 9.9 INS NEUROD1 PTPRN
21 hyperglycemia 9.8 GCK HNF1A INS PDX1
22 type 1 diabetes mellitus 13 9.8 INS PTPRN
23 graves disease 1 9.8 INS TPO
24 maturity-onset diabetes of the young, type 10 9.8 FOXM1 INS
25 glucose metabolism disease 9.8 GCK INS PTPRN
26 acquired metabolic disease 9.8 GCK INS NPY
27 neonatal diabetes mellitus 9.8 GCK HNF1B INS NEUROD1 PDX1
28 insulinoma 9.7 GCK INS PDX1 PTPRN
29 gastrointestinal system benign neoplasm 9.7 FOXM1 INS PTPRN
30 maturity-onset diabetes of the young, type 2 9.7 GCK HNF1A HNF1B HNF4A INS PDX1
31 pancreatic cystadenoma 9.6 FOXM1 INS PDX1 PTPRN
32 autonomic nervous system disease 9.6 INS NPY
33 monogenic diabetes 9.6 CEL GCK HNF1A HNF4A INS PDX1
34 maturity-onset diabetes of the young, type 3 9.6 GCK HNF1A HNF1B HNF4A INS NEUROD1
35 maturity-onset diabetes of the young, type 13 9.6 GCK HNF1A HNF4A INS NEUROD1 PTPRN
36 body mass index quantitative trait locus 11 9.5 CAPN10 CPE GCK INS NPY
37 maturity-onset diabetes of the young, type 1 9.4 CAPN10 GCK HNF1A HNF1B HNF4A INS
38 diabetes mellitus, insulin-dependent 9.3 CPE GCK HNF1A INS NEUROD1 PDX1
39 maturity-onset diabetes of the young, type 7 9.3 CAPN10 GCK HNF1A HNF1B HNF4A INS
40 diabetes mellitus, noninsulin-dependent 9.2 CAPN10 GCK HNF1A HNF1B HNF4A INS

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

Clinical features from OMIM:

606394

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

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

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 9.32 CEL CPE FOXM1 GCK HNF1A HNF4A

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CAPN10 CEL CPE GCK HNF1A HNF1B
2 homeostasis/metabolism MP:0005376 10.27 CAPN10 CEL CPE FOXM1 GCK HNF1A
3 endocrine/exocrine gland MP:0005379 10.21 CAPN10 CPE FOXM1 GCK HNF1A HNF1B
4 digestive/alimentary MP:0005381 10.11 CEL CPE FOXM1 HNF1A INS ISL1
5 liver/biliary system MP:0005370 10.03 CAPN10 CEL CPE FOXM1 GCK HNF1A
6 immune system MP:0005387 10.02 CAPN10 FOXM1 HNF1B INS ISL1 LDHA
7 adipose tissue MP:0005375 9.95 CAPN10 CEL CPE HNF1A INS NPY
8 mortality/aging MP:0010768 9.9 FOXM1 GCK HNF1A HNF1B HNF4A INS
9 muscle MP:0005369 9.5 CPE FOXM1 HNF1A HNF1B INS ISL1
10 renal/urinary system MP:0005367 9.28 CAPN10 GCK HNF1A HNF1B INS ISL1

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

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 6:

41
Liver, Pancreas, T Cells

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

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

# Title Authors Year
1
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. ( 28664602 )
2018

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

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

75
# Symbol AA change Variation ID SNP ID
1 NEUROD1 p.Arg103Pro VAR_076552

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEUROD1 NM_002500.4(NEUROD1): c.616dupC (p.His206Profs) duplication Pathogenic rs387906384 GRCh37 Chromosome 2, 182542972: 182542972
2 NEUROD1 NM_002500.4(NEUROD1): c.616dupC (p.His206Profs) duplication Pathogenic rs387906384 GRCh38 Chromosome 2, 181678245: 181678245
3 NEUROD1 NM_002500.4(NEUROD1): c.309C> G (p.Arg103=) single nucleotide variant Pathogenic rs149703259 GRCh37 Chromosome 2, 182543279: 182543279
4 NEUROD1 NM_002500.4(NEUROD1): c.309C> G (p.Arg103=) single nucleotide variant Pathogenic rs149703259 GRCh38 Chromosome 2, 181678552: 181678552

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 GCK HNF1A HNF1B HNF4A INS NEUROD1
2 12.34 HNF1A HNF4A INS LDHA NEUROD1 PDX1
3 11.9 FOXM1 GCK NEUROD1
4 11.84 HNF1B INS ISL1 NEUROD1 PDX1
5
Show member pathways
11.79 GCK HNF1A HNF1B HNF4A INS NEUROD1
6
Show member pathways
11.5 GCK HNF1A HNF1B HNF4A INS NEUROD1
7 11.39 GCK HNF4A LDHA
8 11.3 GCK HNF1A HNF4A INS PDX1
9 11.29 HNF4A ISL1 NEUROD1
10
Show member pathways
11.21 GCK HNF1A HNF1B HNF4A INS ISL1
11 10.68 INS LDHA
12 10.34 HNF1A HNF4A

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 nucleus GO:0005634 9.4 CPE FOXM1 GCK HNF1A HNF1B HNF4A

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.99 HNF1A HNF4A ISL1 NEUROD1 PDX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 FOXM1 HNF1A HNF1B HNF4A ISL1 NEUROD1
3 positive regulation of transcription, DNA-templated GO:0045893 9.95 FOXM1 HNF1A HNF1B HNF4A NEUROD1 PDX1
4 liver development GO:0001889 9.75 HNF1A HNF1B PDX1
5 glucose metabolic process GO:0006006 9.73 GCK INS PDX1
6 positive regulation of cell differentiation GO:0045597 9.7 INS ISL1 NEUROD1
7 positive regulation of insulin secretion GO:0032024 9.69 CAPN10 GCK ISL1
8 regulation of insulin secretion GO:0050796 9.67 GCK HNF1A HNF4A NEUROD1
9 glucose homeostasis GO:0042593 9.63 GCK HNF1A HNF4A INS NEUROD1 PDX1
10 hindbrain development GO:0030902 9.62 HNF1B NEUROD1
11 signal transduction involved in regulation of gene expression GO:0023019 9.62 HNF4A NEUROD1
12 nitric oxide mediated signal transduction GO:0007263 9.61 NEUROD1 PDX1
13 positive regulation of glycogen biosynthetic process GO:0045725 9.61 GCK INS
14 negative regulation of gluconeogenesis GO:0045721 9.6 GCK INS
15 hepatocyte differentiation GO:0070365 9.58 HNF1B HNF4A
16 endocrine pancreas development GO:0031018 9.58 HNF1A NEUROD1 PDX1
17 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.57 HNF1A HNF1B
18 pancreas development GO:0031016 9.56 HNF1A HNF1B ISL1 PDX1
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.55 NEUROD1 PDX1
20 regulation of cell cycle arrest GO:0071156 9.54 FOXM1 NEUROD1
21 detection of glucose GO:0051594 9.46 GCK PDX1
22 regulation of pronephros size GO:0035565 9.43 HNF1A HNF1B
23 insulin secretion GO:0030073 9.35 HNF1A HNF1B NEUROD1 PDX1 PTPRN
24 response to glucose GO:0009749 9.1 HNF1A HNF1B HNF4A LDHA NEUROD1 PTPRN
25 regulation of transcription, DNA-templated GO:0006355 10.1 FOXM1 HNF1A HNF4A INS ISL1 NEUROD1

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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 FOXM1 HNF1A HNF1B HNF4A ISL1 NEUROD1
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.67 HNF1A HNF4A ISL1 NEUROD1
3 DNA-binding transcription factor activity GO:0003700 9.5 FOXM1 HNF1A HNF1B HNF4A NEUROD1 PDX1
4 RNA polymerase II activating transcription factor binding GO:0001102 9.43 HNF4A ISL1 NEUROD1
5 neurexin family protein binding GO:0042043 9.32 CEL CPE
6 sequence-specific DNA binding GO:0043565 9.23 FOXM1 HNF1A HNF1B HNF4A ISL1 NEUROD1
7 DNA binding GO:0003677 10.01 FOXM1 HNF1A HNF1B HNF4A ISL1 NEUROD1

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

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
Content
Loading form....