MCID: MTR023
MIFTS: 26

Maturity-Onset Diabetes of the Young, Type 6

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Endocrine 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
Diabetes of the Young, Maturity-Onset, Type 6 40
Maturity-Onset Diabetes of the Young Type 6 12
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 diabetes mellitus. 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 Glucose / Energy Metabolism and Hepatic ABC Transporters. Related phenotype is 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 NEUROD1 gene on chromosome 2q31.

Description from OMIM: 606394

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

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.4 HNF1A NEUROD1
2 positive regulation of transcription, DNA-templated GO:0045893 9.37 HNF1A NEUROD1
3 glucose homeostasis GO:0042593 9.32 HNF1A NEUROD1
4 response to glucose GO:0009749 9.26 HNF1A NEUROD1
5 regulation of insulin secretion GO:0050796 9.16 HNF1A NEUROD1
6 insulin secretion GO:0030073 8.96 HNF1A NEUROD1
7 endocrine pancreas development GO:0031018 8.62 HNF1A 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 sequence-specific DNA binding GO:0043565 9.37 HNF1A NEUROD1
2 protein heterodimerization activity GO:0046982 9.32 HNF1A NEUROD1
3 transcription factor binding GO:0008134 9.26 HNF1A NEUROD1
4 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.16 HNF1A NEUROD1
5 protein dimerization activity GO:0046983 8.96 HNF1A NEUROD1
6 double-stranded DNA binding GO:0003690 8.62 HNF1A 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
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