MODY
MCID: MTR004
MIFTS: 68

Maturity-Onset Diabetes of the Young (MODY)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young

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

Name: Maturity-Onset Diabetes of the Young 57 12 25 20 43 58 15
Mody 57 12 25 20 43 58
Maturity Onset Diabetes Mellitus in Young 29 6 71
Maturity Onset Diabetes of the Young 74 36
Mason-Type Diabetes 57 12
Diabetes of the Young, Maturity-Onset 39
Mason Type Diabetes 20
Mody Syndrome 74

Characteristics:

Orphanet epidemiological data:

58
mody
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0050524
OMIM® 57 606391
KEGG 36 H00410
ICD10 32 E11.8
ICD10 via Orphanet 33 E11.9
UMLS via Orphanet 72 C0342276
Orphanet 58 ORPHA552
MedGen 41 C0342276
UMLS 71 C0342276

Summaries for Maturity-Onset Diabetes of the Young

MedlinePlus Genetics : 43 Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high blood sugar levels. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood sugar arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.The different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.HNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood sugar can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood sugar at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.GCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood sugar levels, particularly in the morning before eating (fasting blood sugar). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood sugar), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.

MalaCards based summary : Maturity-Onset Diabetes of the Young, also known as mody, is related to maturity-onset diabetes of the young, type 8, with exocrine dysfunction and maturity-onset diabetes of the young, type 3. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (Glucokinase), and among its related pathways/superpathways are Maturity onset diabetes of the young and Type II diabetes mellitus. The drugs Ketorolac and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are hyperglycemia and glycosuria

Disease Ontology : 12 A diabetes mellitus that has material basis in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.

GARD : 20 Maturity-onset diabetes of the young (MODY) is a form of diabetes that is characterized by an early onset diabetes. MODY represents about 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus. It is due to a primary defect in pancreatic ?-cell function. There are several MODY subtypes with distinct genetic causes: MODY1, caused by mutations in the HNF4A gene; MODY2, caused by mutations in GCK gene; MODY3 caused by mutations in the HNFA1 (the most common type); MODY4 caused by mutations in the PDX1 gene; MODY5 caused by mutations in the HNF1B gene; MODY6 caused by mutations in the NEUROD1 gene; MODY7 caused by mutations in the KLF11 gene; MODY8 caused by mutations in the CEL gene; MODY9 caused by mutations in the PAX4 gene; MODY10 caused by mutations in the INS gene; MODY11 caused by mutations in the BLK gene; MODY12 caused by mutations in the ABCC8 gene; MODY13 caused by heterozygous mutation in the KCNJ11 gene; and MODY14 caused by mutations in the APPL1 gene. It is inherited in an autosomal dominant pattern. Treatment depends on the subtype and may include sulfonylureas, insulin or diet and exercise.

OMIM® : 57 Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). (606391) (Updated 05-Mar-2021)

KEGG : 36 Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases.

Wikipedia : 74 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes... more...

GeneReviews: NBK500456

Related Diseases for Maturity-Onset Diabetes of the Young

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 34.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
2 maturity-onset diabetes of the young, type 3 34.4 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
3 maturity-onset diabetes of the young, type 1 34.4 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
4 maturity-onset diabetes of the young, type 2 34.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
5 maturity-onset diabetes of the young, type 6 34.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
6 maturity-onset diabetes of the young, type 9 34.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
7 maturity-onset diabetes of the young, type 7 34.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
8 maturity-onset diabetes of the young, type 4 34.3 SLC2A2 PDX1 PAX4 NEUROG3 NEUROD1 KLF11
9 maturity-onset diabetes of the young, type 10 34.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 INS-IGF2
10 renal cysts and diabetes syndrome 34.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
11 maturity-onset diabetes of the young, type 13 34.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
12 maturity-onset diabetes of the young, type 11 34.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
13 maturity-onset diabetes of the young, type 14 34.1 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
14 type 2 diabetes mellitus 33.3 SLC2A2 PDX1 PAX4 NEUROG3 NEUROD1 KCNJ11
15 permanent neonatal diabetes mellitus 33.2 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
16 transient neonatal diabetes mellitus 32.9 SLC2A2 PDX1 NEUROG3 NEUROD1 KCNJ11 INS
17 diabetes mellitus 32.9 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
18 monogenic diabetes 32.5 PDX1 KCNJ11 INS-IGF2 INS HNF4A HNF1B
19 hyperglycemia 32.5 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
20 hypoglycemia 32.1 SLC2A2 KCNJ11 INS GCK ABCC8
21 neonatal diabetes 32.0 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
22 type 1 diabetes mellitus 31.9 PDX1 PAX4 NEUROD1 INS HNF4A HNF1A
23 glucose intolerance 31.9 NEUROG3 NEUROD1 KCNJ11 INS HNF1A GCK
24 gestational diabetes 31.8 KCNJ11 INS HNF4A HNF1A GCK ABCC8
25 hyperinsulinemic hypoglycemia 31.7 PDX1 KCNJ11 INS HNF4A HNF1A GCKR
26 hyperinsulinism 31.7 KCNJ11 INS HNF4A HNF1A GCK ABCC8
27 diabetes mellitus, ketosis-prone 31.7 PAX4 KCNJ11 INS ABCC8
28 pancreatic agenesis 31.6 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
29 prediabetes syndrome 31.3 SLC2A2 INS HNF4A GCK
30 fanconi-bickel syndrome 31.2 SLC2A2 INS ABCC8
31 insulinoma 31.2 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
32 hepatic adenomas, familial 31.1 HNF4A HNF1A
33 renal glucosuria 31.1 SLC2A2 INS HNF1B HNF1A
34 acute insulin response 31.0 KCNJ11 INS ABCC8
35 body mass index quantitative trait locus 11 30.8 SLC2A2 KCNJ11 INS HNF4A HNF1A GCKR
36 diabetes mellitus, permanent neonatal, 1 30.6 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
37 glucose metabolism disease 30.5 SLC2A2 KCNJ11 INS GCK ABCC8
38 hyperinsulinemic hypoglycemia, familial, 2 30.5 KCNJ11 INS HNF4A ABCC8
39 fanconi syndrome 30.4 SLC2A2 HNF4A HNF1A
40 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.0
41 hnf1b-related autosomal dominant tubulointerstitial kidney disease 11.5
42 17q12 recurrent deletion syndrome 11.5
43 chromosome 17q12 deletion syndrome 11.3
44 hyperinsulinemic hypoglycemia, familial, 3 11.3
45 pancreatic cystadenoma 10.7 SLC2A2 PDX1 NEUROG3 NEUROD1 INS GCK
46 factitious disorder 10.6 KCNJ11 INS GCK ABCC8
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.6
48 munchausen by proxy 10.6 KCNJ11 GCK ABCC8
49 type 1 diabetes mellitus 11 10.6 PDX1 NEUROD1 HNF1A
50 kidney disease 10.6

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



Diseases related to Maturity-Onset Diabetes of the Young

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003074
2 glycosuria 58 31 frequent (33%) Frequent (79-30%) HP:0003076
3 abnormal oral glucose tolerance 58 31 frequent (33%) Frequent (79-30%) HP:0004924
4 elevated hemoglobin a1c 58 31 frequent (33%) Frequent (79-30%) HP:0040217
5 hypoinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0040216
6 abnormal c-peptide level 58 31 frequent (33%) Frequent (79-30%) HP:0030794
7 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
8 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
9 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
10 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
11 neonatal hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001998
12 hyperinsulinemic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000825
13 transient neonatal diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008255
14 overweight 58 31 occasional (7.5%) Occasional (29-5%) HP:0025502
15 obesity 58 31 very rare (1%) Very rare (<4-1%) HP:0001513
16 exocrine pancreatic insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0001738
17 renal cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0000107
18 pancreatic hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002594
19 hepatocellular adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012028
20 glucose intolerance 58 Frequent (79-30%)
21 abnormality of the kidney 58 Very rare (<4-1%)
22 acanthosis nigricans 58 Excluded (0%)
23 abnormality of the genitourinary system 58 Very rare (<4-1%)
24 insulin-resistant diabetes mellitus 58 Occasional (29-5%)
25 autoimmune antibody positivity 58 Excluded (0%)
26 diabetic ketoacidosis 58 Excluded (0%)
27 abnormal insulin level 58 Frequent (79-30%)

Clinical features from OMIM®:

606391 (Updated 05-Mar-2021)

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

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 ABCC8 APPL1 BLK CEL FOXA2 GCK
2 growth/size/body region MP:0005378 10.34 ABCC8 APPL1 CEL FOXA2 GCK HNF1A
3 endocrine/exocrine gland MP:0005379 10.33 ABCC8 BLK FOXA2 GCK HNF1A HNF1B
4 cellular MP:0005384 10.27 APPL1 FOXA2 GCK HNF1A HNF1B HNF4A
5 mortality/aging MP:0010768 10.17 APPL1 FOXA2 GCK HNF1A HNF1B HNF4A
6 liver/biliary system MP:0005370 10.07 CEL FOXA2 GCK GCKR HNF1A HNF1B
7 adipose tissue MP:0005375 10.05 APPL1 CEL FOXA2 HNF1A INS KCNJ11
8 digestive/alimentary MP:0005381 10.02 CEL FOXA2 HNF1A INS NEUROD1 NEUROG3
9 muscle MP:0005369 9.8 APPL1 HNF1A HNF1B INS KCNJ11 PDX1
10 no phenotypic analysis MP:0003012 9.7 ABCC8 APPL1 HNF1A INS KCNJ11 NEUROG3
11 normal MP:0002873 9.61 BLK FOXA2 HNF4A INS KLF11 NEUROG3
12 renal/urinary system MP:0005367 9.23 GCK HNF1A HNF1B HNF4A INS NEUROD1

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Amitriptyline Approved Phase 4 50-48-6 2160
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
5
Cyclobenzaprine Approved Phase 4 303-53-7 2895
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
8
Glyburide Approved Phase 4 10238-21-8 3488
9 Ketorolac Tromethamine Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Anesthetics Phase 4
13 Cyclooxygenase Inhibitors Phase 4
14 Neurotransmitter Agents Phase 4
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4
16 Psychotropic Drugs Phase 4
17 Antirheumatic Agents Phase 4
18 Analgesics Phase 4
19 Antidepressive Agents Phase 4
20 Anesthetics, Local Phase 4
21 Amitriptyline, perphenazine drug combination Phase 4
22 Adrenergic Agents Phase 4
23 Antipyretics Phase 4
24 Antidepressive Agents, Tricyclic Phase 4
25 Insulin, Globin Zinc Phase 4
26 Hypoglycemic Agents Phase 4
27 insulin Phase 4
28
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
29
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
30 Hormones Phase 2, Phase 3
31 Hormone Antagonists Phase 2, Phase 3
32 Incretins Phase 2, Phase 3
33 Immunosuppressive Agents Phase 2, Phase 3
34 Immunologic Factors Phase 2, Phase 3
35 Anti-Arrhythmia Agents Phase 2, Phase 3
36
Insulin lispro Approved 133107-64-9
37
Insulin glargine Approved 160337-95-1
38
Insulin detemir Approved 169148-63-4 5311023
39
Insulin aspart Approved 116094-23-6 16132418
40
Pancrelipase Approved, Investigational 53608-75-6
41
carbamide peroxide Approved 124-43-6
42
Glucagon Approved 16941-32-5
43
Gliclazide Approved 21187-98-4 3475
44
gastric inhibitory polypeptide Investigational 100040-31-1
45 Insulin, Isophane
46 Isophane Insulin, Human
47 Isophane insulin, beef
48 pancreatin
49 Dipeptidyl-Peptidase IV Inhibitors
50 Sitagliptin Phosphate

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Trigger Point Injection for Myofascial Pain Syndrome in the Low Back (T-PIMPS): A Randomized Controlled Trial. Recruiting NCT04704297 Phase 4 Treatment of Myofascial Pain Syndrome in the low back. This intervention will be based on outcomes of the medications listed below.;Evaluation of functional ability using a patient centered functional score known as the Modified Oswestry Disability Index (MODI). The intervention will be based on outcomes of medications below.;Following up with participants 60-72 hours after treatment in the Emergency Department. This intervention will be based on outcomes of the medications listed below.
2 Switching From Insulin to Sulfonylurea in Childhood and Adult Diabetes Due to Variants in the HNF1A, HNF4A, or HNF1B Genes Enrolling by invitation NCT04239586 Phase 4 Sulfonylurea
3 Phase 2 Study: A Double-blind, Randomised, Clinical Cross-over Trial to Investigate the Treatment Potential of Liraglutide Compared to Glimepiride in MODY Patients Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
4 Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2 Unknown status NCT02556840
5 The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family Unknown status NCT01960231
6 Postprandial Secretion of of Incretin Hormones and Incretin Effect in Patients With Maturity-onset Diabetes of the Young (MODY) Completed NCT01342939
7 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Completed NCT03081676 Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
8 Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study Completed NCT00804102
9 Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) Recruiting NCT04021199
10 Tele-expertise for Glycemic Control Monitoring in Patients With Diabetes Hospitalized for Covid-19 Infection Recruiting NCT04726163
11 Investigating Glucagon Secretion in HNF1-alpha and HNF4-alpha MODY Recruiting NCT03246828
12 Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE Active, not recruiting NCT03607604
13 Study Aiming to Collect Skin Samples of Diabetic Patients and Healthy Volunteers for Cellular Reprogramming, Within the Framework of New Therapeutic Strategies in Diabetes Treatment Terminated NCT01349374
14 The StartRIGHT Pilot Study; Getting the Right Classification and Treatment From Diagnosis in Adults With Diabetes Terminated NCT02287506

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

Genetic Tests for Maturity-Onset Diabetes of the Young

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

# Genetic test Affiliating Genes
1 Maturity Onset Diabetes Mellitus in Young 29

Anatomical Context for Maturity-Onset Diabetes of the Young

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

40
Kidney, Liver, Pancreas, Eye, Retina, Pancreatic Islet, Skin

Publications for Maturity-Onset Diabetes of the Young

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50) (show all 1791)
# Title Authors PMID Year
1
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 61 6 25 57
11575290 2001
2
Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. 61 57 6
9313765 1997
3
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. 25 6 61
26073777 2015
4
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. 6 25 61
22701567 2012
5
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 61 25 6
20621032 2010
6
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 25 6 61
19564454 2009
7
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. 61 6 25
19667185 2009
8
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. 61 25 6
18248649 2008
9
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 6 25 61
18162506 2008
10
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 6 61 25
18192540 2008
11
PAX4 mutations in Thais with maturity onset diabetes of the young. 25 6 61
17426099 2007
12
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 25 6 61
17407387 2007
13
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. 61 25 6
16369531 2006
14
Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. 61 25 57
15657605 2005
15
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. 25 61 6
8433729 1993
16
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. 6 25
15774581 2005
17
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. 6 25
10545951 1999
18
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 6 25
9326926 1997
19
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 25 6
8506821 1993
20
Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. 61 6
21224407 2011
21
Insight into the biochemical characteristics of a novel glucokinase gene mutation. 61 6
21104275 2011
22
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 61 6
20337973 2010
23
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. 61 6
18811724 2009
24
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 6 61
18399931 2008
25
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. 57 61
18436708 2008
26
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. 61 6
18003757 2008
27
Six novel mutations in the GCK gene in MODY patients. 61 6
17204055 2007
28
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 6 61
16965331 2006
29
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. 61 6
16917892 2006
30
Glucokinase mutations in young children with hyperglycemia. 61 6
16444761 2006
31
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 6 61
16731834 2006
32
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. 6 61
15784703 2005
33
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6 61
15649945 2005
34
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). 61 6
15305805 2004
35
A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene. 6 61
15031772 2004
36
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). 6 61
14517956 2003
37
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. 6 61
14517946 2003
38
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. 61 6
12955723 2003
39
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. 6 61
12627330 2003
40
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 6 61
12574234 2003
41
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. 61 6
12453976 2002
42
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 6 61
12442280 2002
43
Bi-allelic inactivation of TCF1 in hepatic adenomas. 61 6
12355088 2002
44
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 6 61
12050210 2002
45
Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis. 61 6
12107757 2002
46
Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes. 6 61
11938027 2002
47
Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus. 61 6
11772903 2002
48
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. 61 6
11508276 2001
49
Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator. 61 6
11435618 2001
50
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. 61 57
11272211 2001

Variations for Maturity-Onset Diabetes of the Young

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

6 (show top 50) (show all 1070)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APPL1 NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter) SNV Pathogenic 208074 rs869320673 3:57294044-57294044 3:57260016-57260016
2 APPL1 NM_012096.3(APPL1):c.280G>A (p.Asp94Asn) SNV Pathogenic 208075 rs796065047 3:57272139-57272139 3:57238111-57238111
3 HNF4A HNF4A, 1-BP DEL, PHE75T Deletion Pathogenic 9214
4 BLK NC_000008.9:g.11369157G>A SNV Pathogenic 12322 rs886037620 8:11331747-11331747 8:11474238-11474238
5 HNF4A NM_175914.4(HNF4A):c.427-1G>A SNV Pathogenic 587398 rs1568731279 20:43043146-43043146 20:44414506-44414506
6 HNF4A NM_175914.4(HNF4A):c.582+1G>A SNV Pathogenic 617652 rs1392795567 20:43043303-43043303 20:44414663-44414663
7 INS-IGF2 NM_000207.3(INS):c.16C>T (p.Arg6Cys) SNV Pathogenic 13390 rs121908278 11:2182186-2182186 11:2160956-2160956
8 INS-IGF2 NM_000207.3(INS):c.137G>A (p.Arg46Gln) SNV Pathogenic 13391 rs121908260 11:2182065-2182065 11:2160835-2160835
9 HNF4A NM_175914.4(HNF4A):c.583-2del Deletion Pathogenic 9215 rs1600731198 20:43047063-43047063 20:44418423-44418423
10 BLK NM_001715.2(BLK):c.*505G>T SNV Pathogenic 12323 rs886037621 8:11422122-11422122 8:11564613-11564613
11 HNF1A HNF1A, 1-BP DEL Deletion Pathogenic 14929
12 HNF1A NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys) SNV Pathogenic 14930 rs137853237 12:121426674-121426674 12:120988871-120988871
13 HNF1A HNF1A, A-C, -58, PROMOTER SNV Pathogenic 14933
14 HNF1A NM_022895.3(C12orf43):c.*2998G>A SNV Pathogenic 14935 rs137853241 12:121438958-121438958 12:121001155-121001155
15 HNF1A HNF1A, 1-BP DEL, -119G, PROMOTER Deletion Pathogenic 14936
16 HNF1A NM_000545.6(HNF1A):c.714-1G>A SNV Pathogenic 14941 rs1463923467 12:121431966-121431966 12:120994163-120994163
17 HNF1A HNF1A, 4-BP DEL Deletion Pathogenic 14944
18 HNF1A HNF1A, 2-BP DEL, AG Deletion Pathogenic 14946
19 HNF1A NM_000545.6(HNF1A):c.130del (p.Leu44fs) Deletion Pathogenic 36798 rs193922578 12:121416697-121416697 12:120978894-120978894
20 HNF1A NM_000545.6(HNF1A):c.1137del (p.Val380fs) Deletion Pathogenic 435426 rs1555212248 12:121434373-121434373 12:120996570-120996570
21 HNF1A NM_000545.6(HNF1A):c.1359del (p.Ser454fs) Deletion Pathogenic 435427 rs1555212359 12:121435326-121435326 12:120997523-120997523
22 HNF1A NM_022895.3(C12orf43):c.*3039dup Duplication Pathogenic 438709 rs1555212747 12:121438916-121438917 12:121001113-121001114
23 HNF1A NM_000545.6(HNF1A):c.1137del (p.Val380fs) Deletion Pathogenic 435426 rs1555212248 12:121434373-121434373 12:120996570-120996570
24 HNF1A NM_000545.6(HNF1A):c.864_897del (p.Pro290fs) Deletion Pathogenic 585219 rs1565885935 12:121432116-121432149 12:120994313-120994346
25 HNF1A NM_000545.6(HNF1A):c.476G>A (p.Arg159Gln) SNV Pathogenic 586792 rs1172328722 12:121426785-121426785 12:120988982-120988982
26 HNF1A NM_000545.6(HNF1A):c.956-1G>C SNV Pathogenic 617646 rs1565886545 12:121434064-121434064 12:120996261-120996261
27 HNF1A NM_000545.8(HNF1A):c.1136del (p.Pro379fs) Deletion Pathogenic 802897 rs1593060859 12:121434367-121434367 12:120996564-120996564
28 HNF1A NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) SNV Pathogenic 972766 12:121435363-121435363 12:120997560-120997560
29 HNF1A NM_000545.6(HNF1A):c.392G>A (p.Arg131Gln) SNV Pathogenic 562373 rs753998395 12:121426701-121426701 12:120988898-120988898
30 HNF1A NM_000545.8(HNF1A):c.1502-6G>A SNV Pathogenic 972783 12:121437065-121437065 12:120999262-120999262
31 HNF1A NM_000545.6(HNF1A):c.526C>T (p.Gln176Ter) SNV Pathogenic 372380 rs754728827 12:121426835-121426835 12:120989032-120989032
32 HNF1A NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) SNV Pathogenic 972818 12:121434371-121434371 12:120996568-120996568
33 HNF1A NM_000545.8(HNF1A):c.1541dup (p.His514fs) Duplication Pathogenic 976400 12:121437109-121437110 12:120999306-120999307
34 HNF4A NM_175914.4(HNF4A):c.763C>T (p.Gln255Ter) SNV Pathogenic 9210 rs137853334 20:43048453-43048453 20:44419813-44419813
35 HNF4A NM_175914.4(HNF4A):c.421C>T (p.Arg141Ter) SNV Pathogenic 9211 rs137853335 20:43042435-43042435 20:44413795-44413795
36 HNF4A NM_175914.4(HNF4A):c.1052T>G (p.Met351Arg) SNV Pathogenic 9216 rs137853338 20:43052883-43052883 20:44424243-44424243
37 HNF1A NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) SNV Pathogenic 14939 rs1169305 12:121437382-121437382 12:120999579-120999579
38 HNF1A NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu) SNV Pathogenic 14942 rs137853243 12:121426644-121426644 12:120988841-120988841
39 HNF1A NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp) SNV Pathogenic 14943 rs137853244 12:121426700-121426700 12:120988897-120988897
40 HNF4A NM_175914.4(HNF4A):c.265C>T (p.Gln89Ter) SNV Pathogenic 617653 rs1568724014 20:43036061-43036061 20:44407421-44407421
41 HNF1A NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) SNV Pathogenic 14940 rs137853242 12:121437410-121437410 12:120999607-120999607
42 GCK GCK, IVS4DS, 15-BP DEL Deletion Pathogenic 16137
43 HNF4A NM_000457.5(HNF4A):c.1022T>C (p.Leu341Pro) SNV Pathogenic 987818 20:43052787-43052787 20:44424147-44424147
44 INS-IGF2 NM_000207.3(INS):c.155C>T (p.Pro52Leu) SNV Pathogenic 931331 11:2182047-2182047 11:2160817-2160817
45 KLF11 NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser) SNV Pathogenic 6498 rs121912645 2:10188503-10188503 2:10048376-10048376
46 NEUROD1 NM_002500.4(NEUROD1):c.616dup (p.His206fs) Duplication Pathogenic 7854 rs387906384 2:182542971-182542972 2:181678244-181678245
47 PDX1 PDX1, 1-BP DEL, 188C Deletion Pathogenic 8857
48 HNF4A NM_175914.4(HNF4A):c.340C>T (p.Arg114Trp) SNV Pathogenic 9212 rs137853336 20:43042354-43042354 20:44413714-44413714
49 PAX4 NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp) SNV Pathogenic 13793 rs121917718 7:127253858-127253858 7:127613804-127613804
50 PAX4 NM_001366110.1(PAX4):c.772-1G>A SNV Pathogenic 13794 rs371715169 7:127251731-127251731 7:127611677-127611677

Expression for Maturity-Onset Diabetes of the Young

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

Pathways for Maturity-Onset Diabetes of the Young

Pathways related to Maturity-Onset Diabetes of the Young according to KEGG:

36
# Name Kegg Source Accession
1 Maturity onset diabetes of the young hsa04950
2 Type II diabetes mellitus hsa04930
3 Insulin signaling pathway hsa04910

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
2
Show member pathways
12.7 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
3 12.44 PDX1 NEUROD1 INS HNF4A HNF1A GCKR
4
Show member pathways
12.16 SLC2A2 KCNJ11 INS ABCC8
5 12.1 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
6
Show member pathways
12 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
7
Show member pathways
11.69 SLC2A2 GCKR GCK
8
Show member pathways
11.68 SLC2A2 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS
9 11.45 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
10
Show member pathways
11.4 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
11 11.09 NKX2-2 NEUROD1 FOXA2
12 10.73 SLC2A2 INS
13 10.38 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young

Cellular components related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.32 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 INS
2 regulation of transcription by RNA polymerase II GO:0006357 10.16 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 PDX1 NKX2-2 NEUROG3 NEUROD1 HNF4A HNF1B
4 cell differentiation GO:0030154 10.1 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 HNF4A
5 positive regulation of transcription, DNA-templated GO:0045893 10.07 PDX1 NEUROG3 NEUROD1 HNF4A HNF1B HNF1A
6 carbohydrate metabolic process GO:0005975 9.91 SLC2A2 INS GCKR GCK
7 response to drug GO:0042493 9.91 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
8 response to organic cyclic compound GO:0014070 9.85 PDX1 NKX2-2 HNF1B
9 positive regulation of neuron differentiation GO:0045666 9.8 NKX2-2 NEUROG3 NEUROD1
10 liver development GO:0001889 9.79 PDX1 HNF1B HNF1A
11 glucose metabolic process GO:0006006 9.78 PDX1 KCNJ11 INS GCK
12 positive regulation of insulin secretion GO:0032024 9.76 PDX1 GCK BLK
13 response to glucose GO:0009749 9.72 PDX1 NKX2-2 NEUROD1 HNF4A HNF1A
14 insulin secretion GO:0030073 9.71 PDX1 NEUROD1 HNF1B HNF1A
15 regulation of protein localization to plasma membrane GO:1903076 9.67 INS APPL1
16 pancreas development GO:0031016 9.67 PDX1 PAX4 HNF1B HNF1A
17 hindbrain development GO:0030902 9.66 NEUROG3 NEUROD1
18 signal transduction involved in regulation of gene expression GO:0023019 9.66 NEUROD1 HNF4A
19 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.65 HNF1B HNF1A
20 negative regulation of gluconeogenesis GO:0045721 9.65 INS GCK
21 nitric oxide mediated signal transduction GO:0007263 9.65 PDX1 NEUROD1
22 positive regulation of cell differentiation GO:0045597 9.65 PAX4 NKX2-2 NEUROG3 NEUROD1 INS
23 inorganic cation transmembrane transport GO:0098662 9.64 KCNJ11 ABCC8
24 positive regulation of glycogen biosynthetic process GO:0045725 9.64 INS GCK
25 hepatocyte differentiation GO:0070365 9.63 HNF4A HNF1B
26 type B pancreatic cell development GO:0003323 9.63 NKX2-2 HNF4A
27 regulation of insulin secretion GO:0050796 9.63 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
28 transdifferentiation GO:0060290 9.61 PDX1 NEUROG3
29 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.6 PDX1 NEUROD1
30 negative regulation of glucokinase activity GO:0033132 9.59 GCKR FOXA2
31 detection of glucose GO:0051594 9.58 PDX1 GCK
32 regulation of pronephros size GO:0035565 9.57 HNF1B HNF1A
33 pancreatic PP cell fate commitment GO:0003329 9.56 NKX2-2 NEUROD1
34 pancreatic A cell fate commitment GO:0003326 9.55 NKX2-2 NEUROD1
35 glucose homeostasis GO:0042593 9.5 PDX1 NEUROD1 INS HNF4A HNF1A GCKR
36 endocrine pancreas development GO:0031018 9.23 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 HNF1B

Molecular functions related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.88 NKX2-2 NEUROG3 NEUROD1 HNF4A HNF1A
3 sequence-specific double-stranded DNA binding GO:1990837 9.85 PDX1 PAX4 NEUROD1 KLF11 HNF4A FOXA2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
5 transcription factor binding GO:0008134 9.83 PDX1 NKX2-2 NEUROD1 HNF1A FOXA2
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.8 KLF11 HNF4A HNF1A FOXA2
7 sequence-specific DNA binding GO:0043565 9.8 PDX1 NKX2-2 NEUROD1 HNF4A HNF1B HNF1A
8 double-stranded DNA binding GO:0003690 9.71 PAX4 NEUROG3 NEUROD1 HNF1A
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
10 cation-transporting ATPase activity GO:0019829 9.51 KCNJ11 ABCC8
11 ATP-activated inward rectifier potassium channel activity GO:0015272 9.46 KCNJ11 ABCC8
12 DNA-binding transcription factor activity GO:0003700 9.28 PDX1 NKX2-2 NEUROG3 NEUROD1 KLF11 HNF4A

Sources for Maturity-Onset Diabetes of the Young

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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