MODY2
MCID: MTR019
MIFTS: 53

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 2:

Name: Maturity-Onset Diabetes of the Young, Type 2 57 53 29 6 38
Mody2 57 12 53 75
Mody Glucokinase-Related 12 53 75
Mody Type 2 12 53 75
Maturity-Onset Diabetes of the Young Type 2 12 15
Diabetes of the Young, Maturity-Onset, Type 2 40
Diabetes Mellitus Autosomal Dominant Type Ii 73
Type 2 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 2 75
Diabetes Mellitus Mody Type 2 53
Mody, Glucokinase-Related 57
Mody, Type Ii 57
Mody, Type 2 57
Mody-2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
maturity-onset diabetes of the young, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125851
Disease Ontology 12 DOID:0111100
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005
UMLS 73 C0342277

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

OMIM : 57 MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France. (125851)

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 2, also known as mody2, is related to maturity-onset diabetes of the young and hyperglycemia. An important gene associated with Maturity-Onset Diabetes of the Young, Type 2 is GCK (Glucokinase), and among its related pathways/superpathways are TGF-Beta Pathway and Developmental Biology. The drugs Zinc and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and kidney, and related phenotypes are maturity-onset diabetes of the young and Decreased free cholesterol

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the GCK gene on chromosome 7p13.

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 2: 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.

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

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 29.7 PDX1 INS HNF4A HNF1B HNF1A GCK
2 hyperglycemia 29.6 PDX1 INS HNF1A GCK
3 monogenic diabetes 29.1 PDX1 INS HNF4A HNF1A GCK
4 maturity-onset diabetes of the young, type 3 29.1 PDX1 INS HNF4A HNF1B HNF1A GCK
5 diabetes mellitus, noninsulin-dependent 28.8 PDX1 INS HNF4A HNF1B HNF1A GCK
6 diabetes mellitus 28.8 PDX1 INS HNF4A HNF1B HNF1A GCK
7 hyperinsulinemic hypoglycemia, familial, 3 11.3
8 hypoglycemia 10.1 INS GCK
9 maturity-onset diabetes of the young, type 14 10.0 HNF1A GCK
10 endocrine pancreas disease 10.0 INS GCK
11 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 INS GCK
12 type 1 diabetes mellitus 11 10.0 INS HNF1A
13 intestinal atresia 10.0 PDX1 GCK
14 pancreatic cystadenoma 10.0 PDX1 INS
15 glucose metabolism disease 10.0 INS GCK
16 greig cephalopolysyndactyly syndrome 9.9
17 chromophobe renal cell carcinoma 9.9 HNF1B HNF1A
18 acquired metabolic disease 9.9 INS GCK
19 polycystic kidney disease 4 with or without polycystic liver disease 9.9 HNF1B HNF1A
20 autosomal genetic disease 9.9 INS HNF1A GCK
21 pancreatic agenesis 9.9 PDX1 INS GCK
22 glucose intolerance 9.9 INS GCK
23 aminoaciduria 9.9 HNF4A HNF1A
24 diabetes mellitus, permanent neonatal 9.9 PDX1 INS GCK
25 insulinoma 9.8 PDX1 INS GCK
26 hyperinsulinemic hypoglycemia 9.8 INS HNF4A GCK
27 gestational diabetes 9.8 INS HNF4A GCK
28 hyperinsulinism 9.8 INS HNF4A GCK
29 neonatal diabetes mellitus 9.7 PDX1 INS HNF1B GCK
30 diabetes mellitus, insulin-dependent 9.7 PDX1 INS HNF1A GCK
31 maturity-onset diabetes of the young, type 13 9.6 INS HNF4A HNF1A GCK
32 maturity-onset diabetes of the young, type 4 9.4 PDX1 HNF4A HNF1B HNF1A GCK
33 renal cysts and diabetes syndrome 9.4 PDX1 HNF4A HNF1B HNF1A GCK
34 maturity-onset diabetes of the young, type 7 9.2 PDX1 INS HNF4A HNF1B HNF1A GCK
35 maturity-onset diabetes of the young, type 6 9.2 PDX1 INS HNF4A HNF1B HNF1A GCK
36 maturity-onset diabetes of the young, type 1 9.2 PDX1 INS HNF4A HNF1B HNF1A GCK

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 2:



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

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

Symptoms via clinical synopsis from OMIM:

57
Endo:
diabetes mellitus

Lab:
glucokinase gene defect

Misc:
early onset, mild and relatively uncomplicated course


Clinical features from OMIM:

125851

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

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 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 HNF1A HNF4A

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 GCK HNF1A HNF1B HNF4A INS PDX1
2 endocrine/exocrine gland MP:0005379 9.8 GCK HNF1A HNF1B INS PDX1
3 homeostasis/metabolism MP:0005376 9.8 GCK HNF1A HNF1B HNF4A INS PDX1
4 liver/biliary system MP:0005370 9.73 GCK HNF1A HNF1B HNF4A INS PDX1
5 mortality/aging MP:0010768 9.63 GCK HNF1A HNF1B HNF4A INS PDX1
6 muscle MP:0005369 9.26 HNF1A HNF1B INS PDX1
7 renal/urinary system MP:0005367 9.02 GCK HNF1A HNF1B INS PDX1

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

Drugs for Maturity-Onset Diabetes of the Young, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 1,Not Applicable 7440-66-6
2
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
3 tannic acid Approved Phase 1
4
Benzocaine Approved, Investigational Phase 1 94-09-7, 1994-09-7 2337
5 Glucagon-Like Peptide 1 Phase 1
6 insulin Phase 1,Not Applicable
7 Hormone Antagonists Phase 1
8 Hormones Phase 1
9 Gastrointestinal Agents Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
11 Central Nervous System Depressants Phase 1
12 Peripheral Nervous System Agents Phase 1
13 Hypoglycemic Agents Phase 1,Not Applicable
14 Anesthetics, Local Phase 1
15 Insulin, Globin Zinc Phase 1,Not Applicable
16 glucagon Phase 1
17 Anesthetics Phase 1
18
Insulin Detemir Approved Not Applicable 169148-63-4 5311023
19
Insulin Glargine Approved Not Applicable 160337-95-1
20
Insulin Lispro Approved Not Applicable 133107-64-9
21
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
22
Pancrelipase Approved, Investigational 53608-75-6
23 Isophane Insulin, Human Not Applicable
24 Insulin, Isophane Not Applicable
25 Isophane insulin, beef Not Applicable
26 pancreatin
27 Sitagliptin Phosphate
28
protease inhibitors
29 Incretins
30 gastric inhibitory polypeptide
31 Dipeptidyl-Peptidase IV Inhibitors
32 HIV Protease Inhibitors
33 Antibodies
34 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance in Type 1 Diabetes and Maturity Onset Diabetes of the Young, Type 2 (MODY2) Recruiting NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
2 Impact on Birth Weight of Two Therapeutic Strategies (Insulin Therapy From the Beginning of Pregnancy vs. Insulin Therapy Initiated According to Fetal Growth Evaluated by Ultrasonography Measurements) in Pregnant Women With Monogenic Diabetes Recruiting NCT02556840 Not Applicable
3 The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family Recruiting NCT01960231
4 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
5 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
6 The Belgian Diabetes in Pregnancy Study: BEDIP-N Study Completed NCT02036619

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 2

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

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

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 2 29 GCK

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

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

41
Testes, Liver, Kidney, Pancreas

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

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

(show all 28)
# Title Authors Year
1
Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase. ( 29704611 )
2018
2
Gut Microbiota Differs in Composition and Functionality Between Children With Type 1 Diabetes and MODY2 and Healthy Control Subjects: A Case-Control Study. ( 30224347 )
2018
3
A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2. ( 25921421 )
2015
4
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
5
"MODY2" (maturity onset diabetes of the young type 2). ( 25622392 )
2014
6
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
7
Like-triple diabetes as first manifestation of MODY2 in an overweight teenager with transient multiple antibodies. ( 24652732 )
2014
8
Comment on Wędrychowicz et al. Like-triple diabetes as first manifestation of MODY2 in an overweight teenager with transient multiple antibodies. Diabetes care 2014;37:e66-e67. ( 25342837 )
2014
9
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
10
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2. ( 23724189 )
2013
11
Structural Variations of Human Glucokinase Glu256Lys in MODY2 Condition Using Molecular Dynamics Study. ( 23476789 )
2013
12
A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs. ( 23890519 )
2013
13
The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl. ( 21688019 )
2012
14
Comment on: Clinical application of best practice guidelines for genetic diagnosis of MODY2. ( 22119532 )
2012
15
Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation. ( 23295287 )
2012
16
Animal model of human maturity onset diabetes of the young--type 2: similar but different? ( 21316026 )
2011
17
A new de novo mutation in the GCK gene causing MODY2. ( 21514682 )
2011
18
Importance of clinical variables in the diagnosis of MODY2 and MODY3. ( 21737366 )
2011
19
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2). ( 19952346 )
2010
20
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). ( 23926378 )
2010
21
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
22
Clinical application of best practice guidelines for the genetic diagnosis of MODY2 and MODY3. ( 20950394 )
2010
23
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients. ( 19551638 )
2009
24
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). ( 16026363 )
2005
25
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. ( 15102714 )
2004
26
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
27
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
28
Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2). ( 9078243 )
1997

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

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

75 (show top 50) (show all 85)
# Symbol AA change Variation ID SNP ID
1 GCK p.Glu70Lys VAR_003693
2 GCK p.Gly80Ala VAR_003694
3 GCK p.Gly80Ser VAR_003695
4 GCK p.Ser131Pro VAR_003697 rs104894010
5 GCK p.Gly175Arg VAR_003698 rs587780344
6 GCK p.Val182Met VAR_003699 rs587780345
7 GCK p.Ala188Thr VAR_003700 rs751279776
8 GCK p.Val203Ala VAR_003701
9 GCK p.Glu221Lys VAR_003702 rs193922317
10 GCK p.Val226Met VAR_003703 rs148311934
11 GCK p.Gly227Cys VAR_003704
12 GCK p.Thr228Met VAR_003705 rs80356655
13 GCK p.Glu256Lys VAR_003706 rs769268803
14 GCK p.Trp257Arg VAR_003707
15 GCK p.Gly261Arg VAR_003708 rs104894008
16 GCK p.Glu279Gln VAR_003709 rs104894005
17 GCK p.Gly299Arg VAR_003710 rs104894009
18 GCK p.Glu300Gln VAR_003711
19 GCK p.Glu300Lys VAR_003712 rs125591188
20 GCK p.Leu309Pro VAR_003713
21 GCK p.Lys414Glu VAR_003714 rs193922272
22 GCK p.Arg36Trp VAR_010584 rs762263694
23 GCK p.Ala53Ser VAR_010585
24 GCK p.Tyr108His VAR_010586
25 GCK p.His137Arg VAR_010587
26 GCK p.Phe150Ser VAR_010588 rs193922297
27 GCK p.Thr168Pro VAR_010589
28 GCK p.Thr209Met VAR_010590
29 GCK p.Met210Thr VAR_010591
30 GCK p.Cys213Arg VAR_010592
31 GCK p.Ala259Thr VAR_010593 rs137565663
32 GCK p.Gly261Glu VAR_010594
33 GCK p.Ser336Leu VAR_010595
34 GCK p.Val367Met VAR_010596 rs105752109
35 GCK p.Cys382Tyr VAR_010597
36 GCK p.Ala384Thr VAR_010598 rs137662021
37 GCK p.Arg392Cys VAR_010599 rs116712413
38 GCK p.Leu164Pro VAR_012350
39 GCK p.Met210Lys VAR_012351 rs80356654
40 GCK p.Ile110Thr VAR_012352 rs133897060
41 GCK p.Ala119Asp VAR_012353 rs117665968
42 GCK p.Gly385Val VAR_012354
43 GCK p.Asp217Asn VAR_075222 rs147065275
44 GCK p.Ile225Met VAR_075223
45 GCK p.Glu248Lys VAR_075224 rs759421263
46 GCK p.Cys129Tyr VAR_078246
47 GCK p.Ala188Val VAR_078248 rs193922307
48 GCK p.Arg191Trp VAR_078249 rs108530745
49 GCK p.Met202Arg VAR_078250
50 GCK p.Gly223Ser VAR_078251

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

6 (show top 50) (show all 281)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCK NM_000162.3(GCK): c.835G> T (p.Glu279Ter) single nucleotide variant Pathogenic rs104894005 GRCh37 Chromosome 7, 44187277: 44187277
2 GCK NM_000162.3(GCK): c.835G> T (p.Glu279Ter) single nucleotide variant Pathogenic rs104894005 GRCh38 Chromosome 7, 44147678: 44147678
3 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh37 Chromosome 7, 44187429: 44187429
4 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh38 Chromosome 7, 44147830: 44147830
5 GCK NM_033507.1(GCK): c.784G> A (p.Gly262Arg) single nucleotide variant Pathogenic rs104894008 GRCh37 Chromosome 7, 44187331: 44187331
6 GCK NM_033507.1(GCK): c.784G> A (p.Gly262Arg) single nucleotide variant Pathogenic rs104894008 GRCh38 Chromosome 7, 44147732: 44147732
7 GCK NM_000162.3(GCK): c.895G> C (p.Gly299Arg) single nucleotide variant Pathogenic rs104894009 GRCh37 Chromosome 7, 44186186: 44186186
8 GCK NM_000162.3(GCK): c.895G> C (p.Gly299Arg) single nucleotide variant Pathogenic rs104894009 GRCh38 Chromosome 7, 44146587: 44146587
9 GCK GCK, IVS4DS, 15-BP DEL deletion Pathogenic
10 GCK NM_000162.3(GCK): c.391T> C (p.Ser131Pro) single nucleotide variant Pathogenic rs104894010 GRCh37 Chromosome 7, 44190647: 44190647
11 GCK NM_000162.3(GCK): c.391T> C (p.Ser131Pro) single nucleotide variant Pathogenic rs104894010 GRCh38 Chromosome 7, 44151048: 44151048
12 GCK NM_000162.3(GCK): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs104894011 GRCh37 Chromosome 7, 44187319: 44187319
13 GCK NM_000162.3(GCK): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs104894011 GRCh38 Chromosome 7, 44147720: 44147720
14 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh37 Chromosome 7, 44189409: 44189409
15 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh38 Chromosome 7, 44149810: 44149810
16 GCK NM_000162.3(GCK): c.1132G> A (p.Ala378Thr) single nucleotide variant Pathogenic rs104894016 GRCh37 Chromosome 7, 44185217: 44185217
17 GCK NM_000162.3(GCK): c.1132G> A (p.Ala378Thr) single nucleotide variant Pathogenic rs104894016 GRCh38 Chromosome 7, 44145618: 44145618
18 GCK NM_000162.3(GCK): c.1142T> G (p.Met381Arg) single nucleotide variant Likely pathogenic rs193922266 GRCh37 Chromosome 7, 44185207: 44185207
19 GCK NM_000162.3(GCK): c.1142T> G (p.Met381Arg) single nucleotide variant Likely pathogenic rs193922266 GRCh38 Chromosome 7, 44145608: 44145608
20 GCK NM_000162.3(GCK): c.1268T> A (p.Phe423Tyr) single nucleotide variant Likely pathogenic rs193922273 GRCh37 Chromosome 7, 44184865: 44184865
21 GCK NM_000162.3(GCK): c.1268T> A (p.Phe423Tyr) single nucleotide variant Likely pathogenic rs193922273 GRCh38 Chromosome 7, 44145266: 44145266
22 GCK NM_000162.3(GCK): c.364-48dupC duplication Uncertain significance rs193922294 GRCh38 Chromosome 7, 44151123: 44151123
23 GCK NM_000162.3(GCK): c.393delC (p.Asp132Thrfs) deletion Likely pathogenic rs193922295 GRCh37 Chromosome 7, 44190645: 44190645
24 GCK NM_000162.3(GCK): c.393delC (p.Asp132Thrfs) deletion Likely pathogenic rs193922295 GRCh38 Chromosome 7, 44151046: 44151046
25 GCK NM_000162.3(GCK): c.440G> A (p.Gly147Asp) single nucleotide variant Likely pathogenic rs193922296 GRCh37 Chromosome 7, 44190598: 44190598
26 GCK NM_000162.3(GCK): c.440G> A (p.Gly147Asp) single nucleotide variant Likely pathogenic rs193922296 GRCh38 Chromosome 7, 44150999: 44150999
27 GCK NM_000162.3(GCK): c.1345G> A (p.Ala449Thr) single nucleotide variant Likely pathogenic rs193922282 GRCh38 Chromosome 7, 44145189: 44145189
28 GCK NM_000162.3(GCK): c.1018A> G (p.Ser340Gly) single nucleotide variant Likely pathogenic rs193922255 GRCh38 Chromosome 7, 44146464: 44146464
29 GCK NM_000162.3(GCK): c.1019+16G> A single nucleotide variant Uncertain significance rs193922256 GRCh37 Chromosome 7, 44186046: 44186046
30 GCK NM_000162.3(GCK): c.1019+16G> A single nucleotide variant Uncertain significance rs193922256 GRCh38 Chromosome 7, 44146447: 44146447
31 GCK NM_000162.3(GCK): c.509G> T (p.Gly170Val) single nucleotide variant Likely pathogenic rs193922303 GRCh38 Chromosome 7, 44150039: 44150039
32 GCK NM_000162.3(GCK): c.527C> G (p.Ala176Gly) single nucleotide variant Likely pathogenic rs193922304 GRCh37 Chromosome 7, 44189620: 44189620
33 GCK NM_000162.3(GCK): c.527C> G (p.Ala176Gly) single nucleotide variant Likely pathogenic rs193922304 GRCh38 Chromosome 7, 44150021: 44150021
34 GCK NM_000162.3(GCK): c.1153G> A (p.Gly385Arg) single nucleotide variant Likely pathogenic rs193922267 GRCh37 Chromosome 7, 44185196: 44185196
35 GCK NM_000162.3(GCK): c.1153G> A (p.Gly385Arg) single nucleotide variant Likely pathogenic rs193922267 GRCh38 Chromosome 7, 44145597: 44145597
36 GCK NM_000162.4(GCK): c.-5T> C single nucleotide variant Uncertain significance rs193922251 GRCh37 Chromosome 7, 44228557: 44228557
37 GCK NM_000162.4(GCK): c.-5T> C single nucleotide variant Uncertain significance rs193922251 GRCh38 Chromosome 7, 44188958: 44188958
38 GCK NM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet) indel Likely pathogenic rs193922252 GRCh37 Chromosome 7, 44186078: 44186079
39 GCK NM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet) indel Likely pathogenic rs193922252 GRCh38 Chromosome 7, 44146479: 44146480
40 GCK NM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs) insertion Likely pathogenic rs193922253 GRCh37 Chromosome 7, 44186077: 44186078
41 GCK NM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs) insertion Likely pathogenic rs193922253 GRCh38 Chromosome 7, 44146478: 44146479
42 GCK NM_000162.3(GCK): c.1003delG (p.Val335Cysfs) deletion Pathogenic/Likely pathogenic rs193922254 GRCh37 Chromosome 7, 44186078: 44186078
43 GCK NM_000162.3(GCK): c.1003delG (p.Val335Cysfs) deletion Pathogenic/Likely pathogenic rs193922254 GRCh38 Chromosome 7, 44146479: 44146479
44 GCK NM_000162.3(GCK): c.1018A> G (p.Ser340Gly) single nucleotide variant Likely pathogenic rs193922255 GRCh37 Chromosome 7, 44186063: 44186063
45 GCK NM_000162.3(GCK): c.1020-10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922257 GRCh37 Chromosome 7, 44185339: 44185339
46 GCK NM_000162.3(GCK): c.1020-10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922257 GRCh38 Chromosome 7, 44145740: 44145740
47 GCK NM_000162.3(GCK): c.1020-1G> C single nucleotide variant Likely pathogenic rs193922258 GRCh37 Chromosome 7, 44185330: 44185330
48 GCK NM_000162.3(GCK): c.1020-1G> C single nucleotide variant Likely pathogenic rs193922258 GRCh38 Chromosome 7, 44145731: 44145731
49 GCK NM_000162.3(GCK): c.103A> T (p.Arg35Ter) single nucleotide variant Likely pathogenic rs193922259 GRCh37 Chromosome 7, 44193005: 44193005
50 GCK NM_000162.3(GCK): c.103A> T (p.Arg35Ter) single nucleotide variant Likely pathogenic rs193922259 GRCh38 Chromosome 7, 44153406: 44153406

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

Pathways related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 HNF1A HNF1B HNF4A INS
2
Show member pathways
13.01 GCK HNF1A HNF1B HNF4A INS PDX1
3
Show member pathways
12.37 GCK INS PDX1
4 12.16 HNF1A HNF4A INS PDX1
5
Show member pathways
12.1 HNF1A HNF1B HNF4A
6 12.03 HNF1A HNF1B HNF4A
7 11.73 HNF1B INS PDX1
8
Show member pathways
11.73 GCK HNF1A HNF1B HNF4A INS PDX1
9
Show member pathways
11.6 HNF1A HNF1B HNF4A
10
Show member pathways
11.43 GCK HNF1A HNF1B HNF4A INS PDX1
11 11.32 GCK HNF4A
12 11.3 GCK HNF1A HNF4A INS PDX1
13
Show member pathways
11.08 GCK HNF1A HNF1B HNF4A INS PDX1
14 10.31 HNF1A HNF4A

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

Biological processes related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.89 HNF1A HNF4A INS PDX1
2 regulation of transcription by RNA polymerase II GO:0006357 9.88 HNF1A HNF1B HNF4A PDX1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.87 HNF1A HNF1B HNF4A PDX1
4 positive regulation of transcription, DNA-templated GO:0045893 9.83 HNF1A HNF1B HNF4A PDX1
5 transcription by RNA polymerase II GO:0006366 9.77 HNF1A HNF4A PDX1
6 liver development GO:0001889 9.63 HNF1A HNF1B PDX1
7 response to glucose GO:0009749 9.61 HNF1A HNF1B HNF4A
8 SMAD protein signal transduction GO:0060395 9.58 HNF1A HNF4A
9 regulation of insulin secretion GO:0050796 9.58 GCK HNF1A HNF4A
10 regulation of Wnt signaling pathway GO:0030111 9.56 HNF1A HNF1B
11 endocrine pancreas development GO:0031018 9.55 HNF1A PDX1
12 positive regulation of glycogen biosynthetic process GO:0045725 9.54 GCK INS
13 glucose metabolic process GO:0006006 9.54 GCK INS PDX1
14 negative regulation of gluconeogenesis GO:0045721 9.51 GCK INS
15 hepatocyte differentiation GO:0070365 9.49 HNF1B HNF4A
16 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.48 HNF1A HNF1B
17 insulin secretion GO:0030073 9.33 HNF1A HNF1B PDX1
18 detection of glucose GO:0051594 9.32 GCK PDX1
19 regulation of pronephros size GO:0035565 9.26 HNF1A HNF1B
20 pancreas development GO:0031016 9.13 HNF1A HNF1B PDX1
21 glucose homeostasis GO:0042593 9.02 GCK HNF1A HNF4A INS PDX1

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 2 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 9.67 HNF1A HNF1B HNF4A PDX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 HNF1A HNF4A PDX1
3 DNA-binding transcription factor activity GO:0003700 9.46 HNF1A HNF1B HNF4A PDX1
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.26 HNF1B HNF4A
5 transcription regulatory region DNA binding GO:0044212 9.13 HNF1A HNF1B HNF4A
6 sequence-specific DNA binding GO:0043565 8.92 HNF1A HNF1B HNF4A PDX1

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

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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