Aliases & Classifications for Monogenic Diabetes

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Aliases & Descriptions for Monogenic Diabetes:

Name: Monogenic Diabetes 45

Classifications:



Summaries for Monogenic Diabetes

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NIH Rare Diseases:45 The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes . environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. polygenic forms of diabetes often run in families. doctors diagnose polygenic forms of diabetes by testing blood glucose in individuals with risk factors or symptoms of diabetes . some rare forms of diabetes result from mutations in a single gene and are called monogenic . monogenic forms of diabetes may account for about 1 to 5 percent of all cases of diabetes in young people . in some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously . most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy . as a result, monogenic diabetes can easily be mistaken for type 1 diabetes . last updated: 9/23/2011

MalaCards based summary: Monogenic Diabetes is related to obesity and hyperglycemia. An important gene associated with Monogenic Diabetes is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways are Dichloroethylene metabolism and Disorders of transmembrane transporters. Affiliated tissues include testes, pancreas and adipocyte, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Related Diseases for Monogenic Diabetes

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Diseases related to Monogenic Diabetes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1obesity27.6ABCC8, GCK, HNF1A, HNF4A, IAPP, INS
2hyperglycemia27.6ABCC8, GCK, HNF1A, IAPP, INS, KCNJ11
3diabetes mellitus, permanent neonatal11.4
4aminolevulinate dehydratase deficiency porphyria10.3HNF1A, HNF4A
5maturity-onset diabetes of the young, type 1310.0ABCC8, KCNJ11
6gestational diabetes10.0
7maturity-onset diabetes of the young10.0
8usher syndrome, type 1c9.9ABCC8, KCNJ11
9aphasia9.9ABCC8, GCK, KCNJ11
10conversion disorder9.9ABCC8, GCK, KCNJ11
11perlman syndrome9.9ABCC8, GCK, KCNJ11
12acute insulin response9.9ABCC8, INS, KCNJ11
13diabetes mellitus, transient neonatal, 39.8ABCC8, KCNJ11
14nephronophthisis 199.8ABCC8, INS, KCNJ11
15primary hypertrophic osteoarthropathy9.8ABCC8, GCK, KCNJ11
16hepatic flexure cancer9.8ABCC8, GCK, KCNJ11
17hyperinsulinism9.8
18pancreatitis9.8
19hypopituitarism9.8
20hypoglycemia9.8
21renal dysplasia9.8
22sparse hair-short stature-skin anomalies syndrome9.6ABCC8, KCNJ11
23fragile x-associated tremor/ataxia syndrome9.6ABCC8, INS, KCNJ11, PDX1
24chronic follicular conjunctivitis9.4ABCC8, GCK, HNF4A, INS, KCNJ11
25placental choriocarcinoma9.4ABCC8, GCK, HNF4A, INS, KCNJ11
26diaphanospondylodysostosis9.3ABCC8, GCK, INS, KCNJ11, PDX1
27antidepressant type abuse9.3ABCC8, GCK, INS, KCNJ11, PDX1
28organic acidemia9.1ABCC8, GCK, IAPP, KCNJ11
29intermittent claudication9.0ABCC8, GCK, IAPP, INS, PDX1
30prediabetes syndrome9.0GCK, HNF1A, IAPP, INS, KCNJ11
31transmitted_by8.8ABCC8, GCK, IAPP, INS, KCNJ11
32femoral neuropathy8.3ABCC8, GCK, HNF1A, IAPP, INS, KCNJ11
33diabetes mellitus, noninsulin-dependent8.0ABCC8, GCK, HNF1A, HNF4A, IAPP, INS
34hepatic adenoma, somatic7.4ABCC8, GCK, HNF1A, HNF4A, IAPP, INS
35nonphotosensitive trichothiodystrophy7.3ABCC8, CEL, GCK, HNF1A, HNF4A, IAPP
36monomelic amyotrophy6.2ABCC8, ADPGK, CEL, GCK, HNF1A, HNF4A

Graphical network of the top 20 diseases related to Monogenic Diabetes:



Diseases related to monogenic diabetes

Symptoms for Monogenic Diabetes

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Drugs & Therapeutics for Monogenic Diabetes

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Drugs for Monogenic Diabetes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlimepirideapprovedPhase 2, Phase 322193479-97-13476
Synonyms:
1-((p-(2-(3-Ethyl-4-methyl-2-oxo-3-pyrroline-1-carboxamido)ethyl)phenyl)sulfonyl)-3-(trans-4-methylcyclohexyl)urea
1-{[4-(2-{[(3-ethyl-4-methyl-2-oxo-2,5-dihydro-1H-pyrrol-1-yl)carbonyl]amino}ethyl)phenyl]sulfonyl}-3-(trans-4-methylcyclohexyl)urea
3-ethyl-4-methyl-N-[2-(4-{[(trans-4-methylcyclohexyl)carbamoyl]sulfamoyl}phenyl)ethyl]-2-oxo-2,5-dihydro-1H-pyrrole-1-carboxamide
3-ethyl-4-methyl-n-(4-(n-((1r,4r)-4-methylcyclohexylcarbamoyl)sulfamoyl)phenethyl)-2-oxo-2,5-dihydro
4-ethyl-3-methyl-N-[2-[4-[(4-methylcyclohexyl)carbamoylsulfamoyl]phenyl]ethyl]-5-oxo-2H-pyrrole-1-carboxamide
64598P
93479-97-1
AB00513874
AC-476
AC1L1G0T
Amarel
Amaryl
Amaryl (TN)
Amaryl, Glista OD, Glimepiride
Avaglim
BPBio1_000751
BRD-K34776109-001-03-4
BRD-K42693031-001-01-8
BRN 5365754
BSPBio_000681
Bio-0049
C07669
C24H34N4O5S
CAS-93479-97-1
CCRIS 7083
CHEBI:5383
CHEMBL1481
CID3476
CPD000466368
D00593
DB00222
Endial
G2295_SIGMA
Glimepirid
Glimepirida
Glimepirida [Spanish]
Glimepiride
Glimepiride (JAN/USP/INN)
Glimepiride [USAN:BAN:INN]
Glimepiridum
 
Glimepiridum [Latin]
Glimepride
Glimer
Glimépiride
Glymepirid
HMS1570C03
HMS2052L03
HMS2090K18
HOE 490
Hoe-490
I06-0029
I06-2285
LS-136752
MLS000759495
MLS001076674
MLS001401419
MolPort-003-847-587
MolPort-003-987-461
MolPort-005-941-721
NCGC00016960-01
NCGC00161404-01
NCGC00161404-02
NCGC00181757-01
Novo-glimepiride
Oprea1_382896
PMS-glimepiride
Prestwick0_000651
Prestwick1_000651
Prestwick2_000651
Prestwick3_000651
Ratio-glimepiride
Roname
S1344_Selleck
SAM001246710
SMR000466368
SPBio_002602
Sandoz glimepiride
Solosa
TL8005924
UNII-6KY687524K
ZINC00537791
glimepiride
2
LiraglutideapprovedPhase 2, Phase 3278204656-20-2
Synonyms:
204656-20-2
Arg34Lys26-(N-ε-(γ-Glu(N-α-hexadecanoyl)))-GLP-1[7-37]
C439759
Liraglutida
Liraglutida [INN-Spanish]
Liraglutide
Liraglutide [USAN:INN]
Liraglutidum
Liraglutidum [INN-Latin]
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)GLP-1-(7-37)-peptide
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)glucagon-like-peptide-1-(7-37)-peptide
 
NN 2211
NN-2211
NN2211
NNC 90-1170
N²⁶-(N-Hexadecanoyl-L-gamma-glutamyl)-[34-L-arginine]glucagon-like peptide 1-(7-37)-peptide
N²⁶-(hexadecanoyl-gamma-glutamyle)-[34-arginine]GLP-1-(7-37)-peptide
Saxenda
UNII-839I73S42A
Victoza
nn 2211
nn2211
victoza
3Immunologic FactorsPhase 2, Phase 318483
4Immunosuppressive AgentsPhase 2, Phase 310422
5IncretinsPhase 2, Phase 3, Phase 11326
6Hypoglycemic AgentsPhase 2, Phase 34503
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 3, Phase 19988
8Glucagon-Like Peptide 1Phase 2, Phase 3, Phase 1620
9Anti-Arrhythmia AgentsPhase 2, Phase 32371
10Hormone AntagonistsPhase 2, Phase 3, Phase 110002
11HormonesPhase 2, Phase 3, Phase 111748
12Insulin, Globin ZincPhase 14278
13insulinPhase 14278
14glucagonPhase 1379
15Gastrointestinal AgentsPhase 16401
16
Insulin Glargineapproved495160337-95-1
Synonyms:
Insulin Glargine (rDNA origin)
 
Lantus
Lantus Solostar
17
Insulin Lisproapproved222133107-64-9
Synonyms:
Humalog
Humalog Cartridge
Humalog KwikPen
Humalog Mix50/50
 
Humalog Mix50/50 KwikPen
Humalog Mix75/25
Humalog Mix75/25 KwikPen
Humalog Pen
Insulin Lispro Recombinant
18
Insulin, isophaneapproved23053027-39-7
Synonyms:
Humulin N
 
Isophane Insulin
NPH Insulin
Novolin N
19
Zincapproved14777440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
20
Insulin Detemirapproved189169148-63-45311023
Synonyms:
Insulin detemir
Insulin detemir recombinant
Levemir
 
Levemir flexpen
Levemir innolet
Levemir penfill
NN-304
21
Insulin Aspartapproved423116094-23-616132418
Synonyms:
(AspB28)-human insulin
1024611-56-0
116094-23-6
139532-40-4
28(sup B)-L-Aspartic acid-insulin (human)
877034-90-7
AspB28-insulin (human)
Aspart
Aspart Insulin
Aspart insulin
B28-Asp-insulin
B28-Aspart-Insulin
INA-X 14
 
INA-X14
Insulin X14
Insulin aspart
Insulin aspart [USAN]
Insulin, Asp(B28)
LS-185932
NovoLog
NovoMix 30
NovoRapid
NovoRapid 30 Mix
Novolog
Novolog Mix 70/30
Novolog mix 70/30
UNII-D933668QVX
22Antibodies4477
23Immunoglobulins4477
24Autoantibodies117
25Isophane Insulin, Human141
26Isophane insulin, beef141
27arginineNutraceutical364

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY)CompletedNCT01610934Phase 2, Phase 3
2Incretin Regulation of Insulin Secretion in Monogenic DiabetesRecruitingNCT01795144Phase 1
3Predisposition Genes in Monogenic Diabetes (DIAMONO)CompletedNCT02634229
4Using Pharmacogenetics to Improve Treatment in Early-onset DiabetesCompletedNCT01238380
5Adipocyte, Insulin-resistance and Immunity : Evaluation of Interleukin-7 in Lipodystrophy, Diabetes and ObesityCompletedNCT01784289
6Identification and Characterization of Monogenic DiabetesRecruitingNCT01481623
7The Verona Newly Diagnosed Type 2 Diabetes StudyRecruitingNCT01526720
8GENetic & Immunologic Abnomalies in Systemic Lupus ErythematosusRecruitingNCT01992666
9Impact 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 DiabetesNot yet recruitingNCT02556840

Search NIH Clinical Center for Monogenic Diabetes

Genetic Tests for Monogenic Diabetes

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Anatomical Context for Monogenic Diabetes

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MalaCards organs/tissues related to Monogenic Diabetes:

33
Testes, Pancreas, Adipocyte, Lung, Prostate, Monocytes, Endothelial

Animal Models for Monogenic Diabetes or affiliated genes

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MGI Mouse Phenotypes related to Monogenic Diabetes:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9CEL, GCK, HNF1A, HNF4A, INS, PDX1
2MP:00053818.7CEL, HNF1A, INS, PDX1, SLC19A2
3MP:00053758.5ADPGK, CEL, HNF1A, INS, KCNJ11
4MP:00053678.5GCK, HNF1A, INS, MAFA, PDX1
5MP:00030128.0ABCC8, HNF1A, INS, KCNJ11, MAFA, PDX1
6MP:00053797.3ABCC8, GCK, HNF1A, INS, KCNJ11, MAFA
7MP:00053786.2ADPGK, CEL, GCK, HNF1A, HNF4A, IAPP
8MP:00053764.9ABCC8, ADPGK, CEL, GCK, HNF1A, HNF4A

Publications for Monogenic Diabetes

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Articles related to Monogenic Diabetes:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Comment on Rudland et al. Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. Diabetes Care 2016;39:50-52. (26696667)
2016
2
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. (27035557)
2016
3
Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. (26853433)
2016
4
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. (27106716)
2016
5
Practical Aspects of Monogenic Diabetes: A Clinical Point of View. (26897468)
2016
6
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. (26043405)
2015
7
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? (26599467)
2015
8
An online monogenic diabetes discussion group: supporting families and fueling new research. (26184072)
2015
9
Monogenic diabetes: the treatment options. (25773279)
2015
10
Personalized Medicine: Monogenic Diabetes. (26390534)
2015
11
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. (26109503)
2015
12
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. (24550216)
2014
13
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. (25136813)
2014
14
Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2]. (25850297)
2014
15
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (25306193)
2014
16
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. (24430318)
2014
17
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
18
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. (24102923)
2013
19
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
20
Monogenic diabetes: a diagnostic algorithm for clinicians. (24705260)
2013
21
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (23624530)
2013
22
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. (22035297)
2012
23
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
24
The role of pancreatic imaging in monogenic diabetes mellitus. (22124438)
2012
25
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
26
Review on monogenic diabetes. (21844708)
2011
27
Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. (21537110)
2011
28
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. (21193618)
2011
29
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. (21880229)
2011
30
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. (21930042)
2011
31
Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. (21350841)
2011
32
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. (21183721)
2011
33
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
34
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
35
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
36
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. (20546279)
2010
37
Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. (20067956)
2010
38
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. (20546258)
2010
39
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
40
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
41
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
42
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age. (19515026)
2009
43
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
44
The diagnosis and management of monogenic diabetes in children and adolescents. (19754616)
2009
45
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
46
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
47
Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. (18684428)
2008
48
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. (18436708)
2008
49
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
50
Intrauterine hyperglycemia modifying the development of (monogenic) diabetes? (12663611)
2003

Variations for Monogenic Diabetes

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Expression for genes affiliated with Monogenic Diabetes

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Search GEO for disease gene expression data for Monogenic Diabetes.

Pathways for genes affiliated with Monogenic Diabetes

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Pathways related to Monogenic Diabetes according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9HNF1A, HNF4A
2
Show member pathways
9.3ABCC8, GCK, KCNJ11
3
Show member pathways
9.3ABCC8, INS, KCNJ11
4
Show member pathways
9.0GCK, HNF1A, HNF4A, INS, PDX1
5
Show member pathways
8.6ABCC8, GCK, INS, KCNJ11, PDX1
68.1ABCC8, GCK, HNF1A, HNF4A, INS, KCNJ11
7
Show member pathways
7.5GCK, HNF1A, HNF4A, IAPP, INS, MAFA
8
Show member pathways
7.5GCK, HNF1A, HNF4A, IAPP, INS, MAFA
9
Show member pathways
7.3ABCC8, GCK, HNF1A, HNF4A, INS, KCNJ11

GO Terms for genes affiliated with Monogenic Diabetes

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Biological processes related to Monogenic Diabetes according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycolytic processGO:004582110.5GCK, INS
2positive regulation of glycogen biosynthetic processGO:004572510.4GCK, INS
3negative regulation of gluconeogenesisGO:004572110.4GCK, INS
4detection of glucoseGO:005159410.3GCK, PDX1
5glucose transportGO:001575810.3GCK, INS
6response to glucoseGO:00097499.9GCK, HNF4A, PDX1
7glucose homeostasisGO:00425939.5GCK, HNF1A, HNF4A, PDX1
8glucose metabolic processGO:00060069.2ADPGK, INS, KCNJ11
9regulation of insulin secretionGO:00507969.1ABCC8, GCK, HNF1A, HNF4A, INS
10endocrine pancreas developmentGO:00310189.1HNF1A, HNF4A, IAPP, INS, PDX1
11regulation of transcription, DNA-templatedGO:00063558.1HNF1A, HNF4A, INS, MAFA, PDX1

Molecular functions related to Monogenic Diabetes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:001527210.0ABCC8, KCNJ11
2RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.9HNF1A, HNF4A

Sources for Monogenic Diabetes

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet