MODY2
MCID: MTR019
MIFTS: 38

Maturity-Onset Diabetes of the Young, Type 2 (MODY2) malady

Genetic diseases, Rare diseases, Endocrine diseases, Liver diseases, Nephrological diseases, Fetal diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Maturity-Onset Diabetes of the Young, Type 2, also known as type 2 maturity-onset diabetes of the young, is related to maturity-onset diabetes of the young and greig cephalopolysyndactyly syndrome. An important gene associated with Maturity-Onset Diabetes of the Young, Type 2 is GCK (glucokinase (hexokinase 4)). The drugs insulin and insulin, aspart, human have been mentioned in the context of this disorder. Affiliated tissues include testes.

Description from OMIM:47 125851

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
43NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 47OMIM
See all sources

Classifications:



Aliases & Descriptions:

maturity-onset diabetes of the young, type 2 43 62
type 2 maturity-onset diabetes of the young 43 20 22
diabetes mellitus, non-insulin-dependent 62
diabetes mellitus mody type 2 43
mody glucokinase-related 43
mody, type ii 47
mody type 2 43
mody2 43


Related Diseases for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Symptoms for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

125851

Clinical features from OMIM:

125851

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 2:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 220 GCK
2 Maturity-Onset Diabetes of the Young, Type 222

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 2:

33
Testes

Animal Models for Maturity-Onset Diabetes of the Young, Type 2 or affiliated genes

About this section

Publications for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
52PubMed
See all sources

Articles related to Maturity-Onset Diabetes of the Young, Type 2:

idTitleAuthorsYear
1
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2. (23724189)
2013
2
Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF). (24244580)
2013
3
Animal model of human maturity onset diabetes of the young--type 2: similar but different? (21316026)
2011
4
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). (23926378)
2010
5
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2). (19952346)
2010
6
A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2. (20015564)
2010
7
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients. (19551638)
2009
8
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. (15102714)
2004
9
Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI). (10455021)
1999
10
Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. (10426385)
1999

Variations for Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

64 (show all 42)
id Symbol AA change Variation ID SNP ID
1GCKp.Glu70LysVAR_003693
2GCKp.Gly80AlaVAR_003694
3GCKp.Gly80SerVAR_003695
4GCKp.Ser131ProVAR_003697
5GCKp.Gly175ArgVAR_003698
6GCKp.Val182MetVAR_003699
7GCKp.Ala188ThrVAR_003700
8GCKp.Val203AlaVAR_003701
9GCKp.Glu221LysVAR_003702
10GCKp.Val226MetVAR_003703
11GCKp.Gly227CysVAR_003704
12GCKp.Thr228MetVAR_003705
13GCKp.Glu256LysVAR_003706
14GCKp.Trp257ArgVAR_003707
15GCKp.Gly261ArgVAR_003708
16GCKp.Glu279GlnVAR_003709rs104894005
17GCKp.Gly299ArgVAR_003710
18GCKp.Glu300GlnVAR_003711
19GCKp.Glu300LysVAR_003712
20GCKp.Leu309ProVAR_003713
21GCKp.Lys414GluVAR_003714
22GCKp.Arg36TrpVAR_010584
23GCKp.Ala53SerVAR_010585
24GCKp.Tyr108HisVAR_010586
25GCKp.His137ArgVAR_010587
26GCKp.Phe150SerVAR_010588
27GCKp.Thr168ProVAR_010589
28GCKp.Thr209MetVAR_010590
29GCKp.Met210ThrVAR_010591
30GCKp.Cys213ArgVAR_010592
31GCKp.Ala259ThrVAR_010593
32GCKp.Gly261GluVAR_010594
33GCKp.Ser336LeuVAR_010595
34GCKp.Val367MetVAR_010596
35GCKp.Cys382TyrVAR_010597
36GCKp.Ala384ThrVAR_010598
37GCKp.Arg392CysVAR_010599
38GCKp.Leu164ProVAR_012350
39GCKp.Met210LysVAR_012351
40GCKp.Ile110ThrVAR_012352
41GCKp.Ala119AspVAR_012353
42GCKp.Gly385ValVAR_012354

Clinvar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1GCKNM_000162.3(GCK): c.683C> T (p.Thr228Met)single nucleotide variantPathogenicrs80356655GRCh37Chr 7, 44187429: 44187429
2GCKNM_000162.3(GCK): c.629T> A (p.Met210Lys)single nucleotide variantPathogenicrs80356654GRCh37Chr 7, 44189409: 44189409
3GCKNM_000162.3(GCK): c.214G> A (p.Gly72Arg)single nucleotide variantPathogenicrs193922289GRCh37Chr 7, 44192019: 44192019
4GCKNM_000162.3(GCK): c.645C> G (p.Tyr215Ter)single nucleotide variantPathogenicrs144723656GRCh37Chr 7, 44189393: 44189393
5GCKNM_000162.3(GCK): c.676G> A (p.Val226Met)single nucleotide variantPathogenicrs148311934GRCh37Chr 7, 44189362: 44189362
6GCKNM_000162.3(GCK): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs193922335GRCh37Chr 7, 44186210: 44186210
7GCKNM_000162.3(GCK): c.944T> A (p.Leu315His)single nucleotide variantPathogenicrs193922338GRCh37Chr 7, 44186137: 44186137

Expression for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 2.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

About this section

Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

About this section

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

About this section

Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maturity-Onset Diabetes of the Young, Type 2

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet