MCID: MTR044
MIFTS: 18

Maturity-Onset Diabetes of the Young, Type 10

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Liver 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 53 28 13 69
Mody10 53 12 71
Maturity-Onset Diabetes of the Young Type 10 12
Maturity-Onset Diabetes of the Young 10 71
Mody Type 10 71
Mody-10 71

Characteristics:

OMIM:

53
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:

OMIM 53 613370
Disease Ontology 12 DOID:0111108
MedGen 39 C3150617
MeSH 41 D003924
SNOMED-CT via HPO 65 263681008 609561005
UMLS 69 C3150617

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

UniProtKB/Swiss-Prot : 71 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 maturity-onset diabetes of the young, and has symptoms including maturity-onset diabetes of the young An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin).

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.

Description from OMIM: 613370

Related Diseases for Maturity-Onset Diabetes of the Young, Type 10

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 10

Symptoms via clinical synopsis from OMIM:

53
Endocrine Features:
diabetes mellitus


Clinical features from OMIM:

613370

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

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

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 28 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:

# Title Authors Year
1
Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. ( 28992123 )
2017

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

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

71
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INS NM_000207.2(INS): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic rs121908278 GRCh37 Chromosome 11, 2182186: 2182186
2 INS NM_000207.2(INS): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121908260 GRCh37 Chromosome 11, 2182065: 2182065
3 INS NM_000207.2(INS): c.125T> C (p.Val42Ala) single nucleotide variant Likely pathogenic rs886037863 GRCh37 Chromosome 11, 2182077: 2182077

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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