MODY2
MCID: MTR019
MIFTS: 39

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

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MalaCards based summary: 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, and has symptoms including An important gene associated with Maturity-Onset Diabetes of the Young, Type 2 is GCK (glucokinase (hexokinase 4)). The drugs acetohexamide and chlorpropamide have been mentioned in the context of this disorder. Affiliated tissues include testes.

Description from OMIM:46 125851

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

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Maturity-Onset Diabetes of the Young, Type 2, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young, Type 2 42 62
Type 2 Maturity-Onset Diabetes of the Young 42 20 22
Maturity Onset Diabetes of the Young, Type 2 62
Diabetes Mellitus, Non-Insulin-Dependent 62
Diabetes Mellitus Mody Type 2 42
 
Mody Glucokinase-Related 42
Mody, Type Ii 46
Mody Type 2 42
Mody2 42


Classifications:



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

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

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Symptoms by clinical synopsis from OMIM:

125851

Clinical features from OMIM:

125851

HPO human phenotypes related to Maturity-Onset Diabetes of the Young, Type 2:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 maturity-onset diabetes of the young HP:0004904

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

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

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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

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

32
Testes

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

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

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

(show all 12)
idTitleAuthorsYear
1
Incretin effect and glucagon responses to oral and intravenous glucose in patients with maturity-onset diabetes of the young--type 2 and type 3. (24677712)
2014
2
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). (24578721)
2014
3
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2. (23724189)
2013
4
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
5
Animal model of human maturity onset diabetes of the young--type 2: similar but different? (21316026)
2011
6
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). (23926378)
2010
7
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2). (19952346)
2010
8
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
9
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients. (19551638)
2009
10
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. (15102714)
2004
11
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
12
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

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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:

6 (show all 88)
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.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet)indelLikely pathogenicrs193922252GRCh37Chr 7, 44186078: 44186079
3GCKNM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs)insertionLikely pathogenicrs193922253GRCh37Chr 7, 44186077: 44186078
4GCKNM_000162.3(GCK): c.1003delG (p.Val335Cysfs)deletionLikely pathogenicrs193922254GRCh37Chr 7, 44186078: 44186078
5GCKNM_000162.3(GCK): c.1018A> G (p.Ser340Gly)single nucleotide variantLikely pathogenicrs193922255GRCh37Chr 7, 44186063: 44186063
6GCKNM_000162.3(GCK): c.1020-1G> Csingle nucleotide variantLikely pathogenicrs193922258GRCh37Chr 7, 44185330: 44185330
7GCKNM_000162.3(GCK): c.103A> T (p.Arg35Ter)single nucleotide variantLikely pathogenicrs193922259GRCh37Chr 7, 44193005: 44193005
8GCKNM_000162.3(GCK): c.1042A> T (p.Ile348Phe)single nucleotide variantLikely pathogenicrs193922260GRCh37Chr 7, 44185307: 44185307
9GCKNM_000162.3(GCK): c.107G> C (p.Arg36Pro)single nucleotide variantLikely pathogenicrs193922261GRCh37Chr 7, 44193001: 44193001
10GCKNM_000162.3(GCK): c.1114G> T (p.Glu372Ter)single nucleotide variantLikely pathogenicrs193922262GRCh37Chr 7, 44185235: 44185235
11GCKNM_000162.3(GCK): c.1124C> T (p.Ser375Phe)single nucleotide variantLikely pathogenicrs193922263GRCh37Chr 7, 44185225: 44185225
12GCKNM_000162.3(GCK): c.1130G> A (p.Arg377His)single nucleotide variantLikely pathogenicrs193922264GRCh37Chr 7, 44185219: 44185219
13GCKNM_000162.3(GCK): c.1136C> A (p.Ala379Glu)single nucleotide variantLikely pathogenicrs193922265GRCh37Chr 7, 44185213: 44185213
14GCKNM_000162.3(GCK): c.1142T> G (p.Met381Arg)single nucleotide variantLikely pathogenicrs193922266GRCh37Chr 7, 44185207: 44185207
15GCKNM_000162.3(GCK): c.1153G> A (p.Gly385Arg)single nucleotide variantLikely pathogenicrs193922267GRCh37Chr 7, 44185196: 44185196
16GCKNM_000162.3(GCK): c.1157T> C (p.Leu386Pro)single nucleotide variantLikely pathogenicrs193922268GRCh37Chr 7, 44185192: 44185192
17GCKNM_000162.3(GCK): c.1160C> A (p.Ala387Glu)single nucleotide variantLikely pathogenicrs193921338GRCh37Chr 7, 44185189: 44185189
18GCKNM_000162.3(GCK): c.1160C> T (p.Ala387Val)single nucleotide variantLikely pathogenicrs193921338GRCh37Chr 7, 44185189: 44185189
19GCKNM_000162.3(GCK): c.1169T> A (p.Ile390Asn)single nucleotide variantLikely pathogenicrs193921340GRCh37Chr 7, 44185180: 44185180
20GCKNM_000162.3(GCK): c.1169T> C (p.Ile390Thr)single nucleotide variantLikely pathogenicrs193921340GRCh37Chr 7, 44185180: 44185180
21GCKNM_000162.3(GCK): c.1175G> T (p.Arg392Leu)single nucleotide variantLikely pathogenicrs193922269GRCh37Chr 7, 44185174: 44185174
22GCKNM_000162.3(GCK): c.1207C> G (p.Arg403Gly)single nucleotide variantLikely pathogenicrs193922271GRCh37Chr 7, 44185142: 44185142
23GCKNM_000162.3(GCK): c.1240A> G (p.Lys414Glu)single nucleotide variantLikely pathogenicrs193922272GRCh37Chr 7, 44185109: 44185109
24GCKNM_000162.3(GCK): c.1268T> A (p.Phe423Tyr)single nucleotide variantLikely pathogenicrs193922273GRCh37Chr 7, 44184865: 44184865
25GCKNM_000162.3(GCK)indelLikely pathogenicrs193922274GRCh37Chr 7, 44184775: 44184854
26GCKNM_000162.3(GCK): c.1283_1284delGC (p.Arg428Glnfs)deletionLikely pathogenicrs193922275GRCh37Chr 7, 44184849: 44184850
27GCKNM_000162.3(GCK): c.1289T> C (p.Leu430Pro)single nucleotide variantLikely pathogenicrs193922277GRCh37Chr 7, 44184844: 44184844
28GCKNM_000162.3(GCK): c.1307T> A (p.Ile436Asn)single nucleotide variantLikely pathogenicrs193922278GRCh37Chr 7, 44184826: 44184826
29GCKNM_000162.3(GCK): c.131G> A (p.Gly44Asp)single nucleotide variantLikely pathogenicrs193922279GRCh37Chr 7, 44192977: 44192977
30GCKNM_000162.3(GCK): c.1332delC (p.Ser445Valfs)deletionLikely pathogenicrs193922280GRCh37Chr 7, 44184801: 44184801
31GCKNM_000162.3(GCK): c.1339C> G (p.Arg447Gly)single nucleotide variantLikely pathogenicrs193922281GRCh37Chr 7, 44184794: 44184794
32GCKNM_000162.3(GCK): c.1345G> A (p.Ala449Thr)single nucleotide variantLikely pathogenicrs193922282GRCh37Chr 7, 44184788: 44184788
33GCKNM_000162.3(GCK): c.1358C> T (p.Ser453Leu)single nucleotide variantLikely pathogenicrs193922283GRCh37Chr 7, 44184775: 44184775
34GCKNM_000162.3(GCK): c.1372_1373delAA (p.Lys458Glufs)deletionLikely pathogenicrs193922284GRCh37Chr 7, 44184760: 44184761
35GCKNM_000162.3(GCK): c.1386G> T (p.Met462Ile)single nucleotide variantLikely pathogenicrs193922285GRCh37Chr 7, 44184747: 44184747
36GCKp.X466Trpsingle nucleotide variantLikely pathogenic
37GCKNM_000162.3(GCK): c.146C> A (p.Thr49Asn)single nucleotide variantLikely pathogenicrs193922286GRCh37Chr 7, 44192962: 44192962
38GCKNM_000162.3(GCK): c.175C> T (p.Pro59Ser)single nucleotide variantLikely pathogenicrs193922287GRCh37Chr 7, 44192933: 44192933
39GCKNM_000162.3(GCK): c.214G> A (p.Gly72Arg)single nucleotide variantPathogenicrs193922289GRCh37Chr 7, 44192019: 44192019
40GCKNM_000162.3(GCK): c.253A> T (p.Arg85Trp)single nucleotide variantLikely pathogenicrs193922290GRCh37Chr 7, 44191980: 44191980
41GCKNM_000162.3(GCK): c.304A> T (p.Lys102Ter)single nucleotide variantLikely pathogenicrs193922291GRCh37Chr 7, 44191929: 44191929
42GCKNM_000162.3(GCK): c.322T> G (p.Tyr108Asp)single nucleotide variantLikely pathogenicrs193922292GRCh37Chr 7, 44191911: 44191911
43GCKNM_000162.3(GCK): c.393delC (p.Asp132Thrfs)deletionLikely pathogenicrs193922295GRCh37Chr 7, 44190645: 44190645
44GCKNM_000162.3(GCK): c.440G> A (p.Gly147Asp)single nucleotide variantLikely pathogenicrs193922296GRCh37Chr 7, 44190598: 44190598
45GCKNM_000162.3(GCK): c.449T> C (p.Phe150Ser)single nucleotide variantLikely pathogenicrs193922297GRCh37Chr 7, 44190589: 44190589
46GCKNM_000162.3(GCK): c.457C> T (p.Pro153Ser)single nucleotide variantLikely pathogenicrs193922300GRCh37Chr 7, 44190581: 44190581
47GCKNM_000162.3(GCK): c.463A> G (p.Arg155Gly)single nucleotide variantLikely pathogenicrs193922301GRCh37Chr 7, 44190575: 44190575
48GCKNM_000162.3(GCK): c.483G> A (p.Lys161=)single nucleotide variantLikely pathogenicrs193922302GRCh37Chr 7, 44190555: 44190555
49GCKNM_000162.3(GCK): c.509G> T (p.Gly170Val)single nucleotide variantLikely pathogenicrs193922303GRCh37Chr 7, 44189638: 44189638
50GCKNM_000162.3(GCK): c.527C> G (p.Ala176Gly)single nucleotide variantLikely pathogenicrs193922304GRCh37Chr 7, 44189620: 44189620
51GCKNM_000162.3(GCK): c.532G> A (p.Gly178Arg)single nucleotide variantLikely pathogenicrs193922305GRCh37Chr 7, 44189615: 44189615
52GCKNM_000162.3(GCK): c.542T> C (p.Val181Ala)single nucleotide variantLikely pathogenicrs193922306GRCh37Chr 7, 44189605: 44189605
53GCKNM_000162.3(GCK): c.563C> T (p.Ala188Val)single nucleotide variantLikely pathogenicrs193922307GRCh37Chr 7, 44189584: 44189584
54GCKNM_000162.3(GCK): c.57C> G (p.Ile19Met)single nucleotide variantLikely pathogenicrs193922308GRCh37Chr 7, 44193051: 44193051
55GCKNM_000162.3(GCK): c.587A> G (p.Glu196Gly)single nucleotide variantLikely pathogenicrs193922309GRCh37Chr 7, 44189451: 44189451
56GCKNM_000162.3(GCK): c.604A> G (p.Met202Val)single nucleotide variantLikely pathogenicrs193922310GRCh37Chr 7, 44189434: 44189434
57GCKNM_000162.3(GCK): c.605T> C (p.Met202Thr)single nucleotide variantLikely pathogenicrs193922311GRCh37Chr 7, 44189433: 44189433
58GCKNM_000162.3(GCK): c.615C> G (p.Asp205Glu)single nucleotide variantLikely pathogenicrs193922312GRCh37Chr 7, 44189423: 44189423
59GCKNM_000162.3(GCK): c.630G> T (p.Met210Ile)single nucleotide variantLikely pathogenicrs193922313GRCh37Chr 7, 44189408: 44189408
60GCKNM_000162.3(GCK): c.635_637delCCT (p.Ser212del)deletionLikely pathogenicrs193922314GRCh37Chr 7, 44189401: 44189403
61GCKNM_000162.3(GCK): c.645C> G (p.Tyr215Ter)single nucleotide variantPathogenicrs144723656GRCh37Chr 7, 44189393: 44189393
62GCKNM_000162.3(GCK): c.658T> C (p.Cys220Arg)single nucleotide variantLikely pathogenicrs193922315GRCh37Chr 7, 44189380: 44189380
63GCKNM_000162.3(GCK): c.659G> A (p.Cys220Tyr)single nucleotide variantLikely pathogenicrs193922316GRCh37Chr 7, 44189379: 44189379
64GCKNM_000162.3(GCK): c.661G> A (p.Glu221Lys)single nucleotide variantLikely pathogenicrs193922317GRCh37Chr 7, 44189377: 44189377
65GCKNM_000162.3(GCK): c.676G> A (p.Val226Met)single nucleotide variantPathogenicrs148311934GRCh37Chr 7, 44189362: 44189362
66GCKNM_000162.3(GCK): c.677T> C (p.Val226Ala)single nucleotide variantLikely pathogenicrs193922319GRCh37Chr 7, 44189361: 44189361
67GCKNM_000162.3(GCK): c.679+1delGdeletionLikely pathogenicrs193922320GRCh37Chr 7, 44189358: 44189358
68GCKNM_000162.3(GCK): c.694G> A (p.Ala232Thr)single nucleotide variantLikely pathogenicrs193922322GRCh37Chr 7, 44187418: 44187418
69GCKNM_000162.3(GCK): c.704T> C (p.Met235Thr)single nucleotide variantLikely pathogenicrs193922323GRCh37Chr 7, 44187408: 44187408
70GCKNM_000162.3(GCK): c.74T> G (p.Leu25Arg)single nucleotide variantLikely pathogenicrs193922325GRCh37Chr 7, 44193034: 44193034
71GCKNM_000162.3(GCK): c.752T> C (p.Met251Thr)single nucleotide variantLikely pathogenicrs193922326GRCh37Chr 7, 44187360: 44187360
72GCKNM_000162.3(GCK): c.758T> C (p.Val253Ala)single nucleotide variantLikely pathogenicrs193921400GRCh37Chr 7, 44187354: 44187354
73GCKNM_000162.3(GCK): c.758T> G (p.Val253Gly)single nucleotide variantLikely pathogenicrs193921400GRCh37Chr 7, 44187354: 44187354
74GCKNM_000162.3(GCK): c.760A> C (p.Asn254His)single nucleotide variantLikely pathogenicrs193922327GRCh37Chr 7, 44187352: 44187352
75GCKNM_000162.3(GCK): c.768G> C (p.Glu256Asp)single nucleotide variantLikely pathogenicrs193922328GRCh37Chr 7, 44187344: 44187344
76GCKNM_000162.3(GCK): c.76C> T (p.Gln26Ter)single nucleotide variantLikely pathogenicrs193922329GRCh37Chr 7, 44193032: 44193032
77GCKNM_000162.3(GCK): c.779T> C (p.Phe260Ser)single nucleotide variantLikely pathogenicrs193922330GRCh37Chr 7, 44187333: 44187333
78GCKNM_000162.3(GCK): c.787T> C (p.Ser263Pro)single nucleotide variantLikely pathogenicrs193922331GRCh37Chr 7, 44187325: 44187325
79GCKNM_000162.3(GCK): c.812T> C (p.Leu271Pro)single nucleotide variantLikely pathogenicrs193922332GRCh37Chr 7, 44187300: 44187300
80GCKNM_000162.3(GCK): c.833A> T (p.Asp278Val)single nucleotide variantLikely pathogenicrs193922333GRCh37Chr 7, 44187279: 44187279
81GCKNM_000162.3(GCK): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs193922335GRCh37Chr 7, 44186210: 44186210
82GCKNM_000162.3(GCK): c.907C> T (p.Arg303Trp)single nucleotide variantLikely pathogenicrs193922336GRCh37Chr 7, 44186174: 44186174
83GCKNM_000162.3(GCK): c.917T> C (p.Leu306Pro)single nucleotide variantLikely pathogenicrs193922337GRCh37Chr 7, 44186164: 44186164
84GCKNM_000162.3(GCK): c.944T> A (p.Leu315His)single nucleotide variantPathogenicrs193922338GRCh37Chr 7, 44186137: 44186137
85GCKNM_000162.3(GCK): c.947T> A (p.Phe316Tyr)single nucleotide variantLikely pathogenicrs193922339GRCh37Chr 7, 44186134: 44186134
86GCKNM_000162.3(GCK): c.952G> T (p.Gly318Trp)single nucleotide variantLikely pathogenicrs193922340GRCh37Chr 7, 44186129: 44186129
87GCKNM_000162.3(GCK): c.971T> C (p.Leu324Pro)single nucleotide variantLikely pathogenicrs193922341GRCh37Chr 7, 44186110: 44186110
88GCKGCK: c.dup_Exon2-6duplicationLikely pathogenic

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

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Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet