MODY3
MCID: MTR020
MIFTS: 32

Maturity-Onset Diabetes of the Young, Type 3 (MODY3) malady

Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Nephrological diseases, Fetal diseases, Neuronal diseases categories
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Summaries for Maturity-Onset Diabetes of the Young, Type 3

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MalaCards based summary: Maturity-Onset Diabetes of the Young, Type 3, also known as type 3 maturity-onset diabetes of the young, is related to maturity-onset diabetes of the young and pancreatitis, and has symptoms including An important gene associated with Maturity-Onset Diabetes of the Young, Type 3 is HNF1A (HNF1 homeobox A). Affiliated tissues include liver.

Description from OMIM:46 600496

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 3

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Maturity-Onset Diabetes of the Young, Type 3, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young, Type 3 42 62
Type 3 Maturity-Onset Diabetes of the Young 42 20 22
Mody Hepatocyte Nuclear Factor-1-Alpha Related 42
Diabetes Mellitus Mody Type 3 42
 
Mody, Type Iii 46
Mody Type 3 42
Mody3 42


Classifications:



Related Diseases for Maturity-Onset Diabetes of the Young, Type 3

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Graphical network of diseases related to Maturity-Onset Diabetes of the Young, Type 3:



Diseases related to maturity-onset diabetes of the young, type 3

Symptoms for Maturity-Onset Diabetes of the Young, Type 3

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Symptoms by clinical synopsis from OMIM:

600496

Clinical features from OMIM:

600496

HPO human phenotypes related to Maturity-Onset Diabetes of the Young, Type 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperglycemia HP:0003074
3 infantile onset HP:0003593
4 maturity-onset diabetes of the young HP:0004904
5 type ii diabetes mellitus HP:0005978

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 3

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Drug clinical trials:

Search ClinicalTrials for Maturity-Onset Diabetes of the Young, Type 3

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 3

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 3

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Genetic tests related to Maturity-Onset Diabetes of the Young, Type 3:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 320 HNF1A
2 Maturity-Onset Diabetes of the Young, Type 322

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 3

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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 3:

32
Liver

Animal Models for Maturity-Onset Diabetes of the Young, Type 3 or affiliated genes

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Publications for Maturity-Onset Diabetes of the Young, Type 3

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Articles related to Maturity-Onset Diabetes of the Young, Type 3:

(show all 12)
idTitleAuthorsYear
1
A family with a novel termination mutation in hepatic nuclear factor 1I+ in maturity-onset diabetes of the young type 3 which is unresponsive to sulphonylurea therapy. (24642958)
2014
2
Three years of liraglutide treatment offers continuously optimal glycemic control in a pediatric patient with maturity-onset diabetes of the young type 3. (25332292)
2014
3
Arteriovascular calcification leading to diagnosis of maturity-onset diabetes of the young type 3. (23582135)
2013
4
Japanese boy with maturity-onset diabetes of the young type 3 who developed diabetes at 19 months old. (23679181)
2013
5
Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3). (22672869)
2012
6
Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3. (22348187)
2012
7
New HNF-1I+ nonsense mutation causes maturity-onset diabetes of the young type 3. (21437455)
2011
8
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. (17989309)
2008
9
A case of new mutation in maturity-onset diabetes of the young type 3 (MODY 3) responsive to a low dose of sulphonylurea. (18433912)
2008
10
Diabetic ketoacidosis with a fatal issue: is it a MODY3 (maturity-onset diabetes of the young type 3)?]. (18390429)
2008
11
Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. (16443858)
2006
12
Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1alpha-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3). (12475773)
2002

Variations for Maturity-Onset Diabetes of the Young, Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

64 (show all 36)
id Symbol AA change Variation ID SNP ID
1HNF1Ap.Tyr122CysVAR_003756
2HNF1Ap.Ser142PheVAR_003757
3HNF1Ap.Arg159GlnVAR_003758
4HNF1Ap.Arg272HisVAR_003759
5HNF1Ap.Pro447LeuVAR_003760
6HNF1Ap.Leu12HisVAR_010537
7HNF1Ap.Gly31AspVAR_010538
8HNF1Ap.Leu107ArgVAR_010541
9HNF1Ap.Lys117GluVAR_010542
10HNF1Ap.Ile128AsnVAR_010543
11HNF1Ap.Pro129ThrVAR_010544
12HNF1Ap.Arg131GlnVAR_010545
13HNF1Ap.Arg131TrpVAR_010546
14HNF1Ap.Val133MetVAR_010547
15HNF1Ap.His143TyrVAR_010548
16HNF1Ap.Lys158AsnVAR_010549
17HNF1Ap.Arg159TrpVAR_010550
18HNF1Ap.Ala161ThrVAR_010551
19HNF1Ap.Arg203CysVAR_010554
20HNF1Ap.Lys205GlnVAR_010555
21HNF1Ap.Arg229GlnVAR_010556
22HNF1Ap.Cys241GlyVAR_010557
23HNF1Ap.Val259AspVAR_010559
24HNF1Ap.Thr260MetVAR_010560
25HNF1Ap.Arg263CysVAR_010561
26HNF1Ap.Arg271TrpVAR_010562
27HNF1Ap.Pro519LeuVAR_010567
28HNF1Ap.Thr537ArgVAR_010568
29HNF1Ap.Ser594IleVAR_010571
30HNF1Ap.Glu619LysVAR_010572
31HNF1Ap.Thr620IleVAR_010573
32HNF1Ap.Gly20ArgVAR_012483
33HNF1Ap.Arg203HisVAR_012484
34HNF1Ap.Ser432CysVAR_012485
35HNF1Ap.Ile618MetVAR_012486
36HNF1Ap.Arg200TrpVAR_063069

Clinvar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

6 (show all 44)
id Gene Name Type Significance SNP ID Assembly Location
1HNF1ANM_000545.5(HNF1A): c.872dupC (p.Gly292Argfs)duplicationPathogenicGRCh37Chr 12, 121432125: 121432125
2HNF1ANM_000545.5(HNF1A): c.1340C> T (p.Pro447Leu)single nucleotide variantPathogenicrs137853236GRCh37Chr 12, 121435307: 121435307
3HNF1AHNF1A, 1-BP DELdeletionPathogenic
4HNF1ANM_000545.5(HNF1A): c.365A> G (p.Tyr122Cys)single nucleotide variantPathogenicrs137853237GRCh37Chr 12, 121426674: 121426674
5HNF1ANM_000545.5(HNF1A): c.1747C> G (p.Arg583Gly)single nucleotide variantLikely pathogenicrs137853239GRCh37Chr 12, 121437409: 121437409
6HNF1AHNF1A, A-C, -58single nucleotide variantPathogenic
7HNF1ANM_000545.5(HNF1A): c.1859C> T (p.Thr620Ile)single nucleotide variantPathogenicrs137853241GRCh37Chr 12, 121438958: 121438958
8HNF1AHNF1A, 1-BP DEL, -119GdeletionPathogenic
9HNF1ANM_000545.5(HNF1A): c.1720G> A (p.Gly574Ser)single nucleotide variantPathogenicrs1169305GRCh37Chr 12, 121437382: 121437382
10HNF1ANM_000545.5(HNF1A): c.1748G> A (p.Arg583Gln)single nucleotide variantLikely pathogenicrs137853242GRCh37Chr 12, 121437410: 121437410
11HNF1AHNF1A, IVS3, G-A, -1single nucleotide variantPathogenic
12HNF1ANM_000545.5(HNF1A): c.335C> T (p.Pro112Leu)single nucleotide variantPathogenicrs137853243GRCh37Chr 12, 121426644: 121426644
13HNF1ANM_000545.5(HNF1A): c.391C> T (p.Arg131Trp)single nucleotide variantPathogenicrs137853244GRCh37Chr 12, 121426700: 121426700
14HNF1AHNF1A, 4-BP DELdeletionPathogenic
15HNF1ANM_000545.5(HNF1A): c.827C> A (p.Ala276Asp)single nucleotide variantPathogenicrs137853245GRCh37Chr 12, 121432080: 121432080
16HNF1AHNF1A, 2-BP DEL, AGdeletionPathogenic
17HNF1ANM_000545.5(HNF1A): c.1592G> C (p.Ser531Thr)single nucleotide variantPathogenicrs137853246GRCh37Chr 12, 121437161: 121437161
18HNF1ANM_000545.5(HNF1A): c.92G> A (p.Gly31Asp)single nucleotide variantPathogenicrs137853247GRCh37Chr 12, 121416663: 121416663
19HNF1ANM_000545.5(HNF1A): c.1129delC (p.Leu377Serfs)deletionLikely pathogenicrs193922576GRCh37Chr 12, 121434365: 121434365
20HNF1ANM_000545.5(HNF1A): c.1265T> C (p.Leu422Pro)single nucleotide variantLikely pathogenicrs193922577GRCh37Chr 12, 121434501: 121434501
21HNF1ANM_000545.5(HNF1A): c.130delC (p.Leu44Trpfs)deletionPathogenicrs193922578GRCh37Chr 12, 121416701: 121416701
22HNF1ANM_000545.5(HNF1A): c.1424C> T (p.Pro475Leu)single nucleotide variantLikely pathogenicrs193922580GRCh37Chr 12, 121435391: 121435391
23HNF1ANM_000545.5(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs)duplicationLikely pathogenicrs193922582GRCh37Chr 12, 121437076: 121437077
24HNF1ANM_000545.5(HNF1A): c.1663C> T (p.Leu555Phe)single nucleotide variantLikely pathogenicrs193922587GRCh37Chr 12, 121437325: 121437325
25HNF1ANM_000545.5(HNF1A): c.169delC (p.Leu57Trpfs)deletionLikely pathogenicrs193922588GRCh37Chr 12, 121416740: 121416740
26HNF1ANM_000545.5(HNF1A): c.1745A> G (p.His582Arg)single nucleotide variantLikely pathogenicrs193922589GRCh37Chr 12, 121437407: 121437407
27HNF1ANM_000545.5(HNF1A): c.1854C> G (p.Ile618Met)single nucleotide variantLikely pathogenicrs193922591GRCh37Chr 12, 121438953: 121438953
28HNF1ANM_000545.5(HNF1A): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs193922592GRCh37Chr 12, 121416572: 121416572
29HNF1ANM_000545.5(HNF1A): c.281C> T (p.Pro94Leu)single nucleotide variantLikely pathogenicrs193922593GRCh37Chr 12, 121416852: 121416852
30HNF1ANM_000545.5(HNF1A): c.313dupG (p.Glu105Glyfs)duplicationLikely pathogenicrs193922594GRCh37Chr 12, 121416884: 121416885
31HNF1ANM_000545.5(HNF1A): c.375_377dupGCA (p.Gln125_His126insGln)duplicationLikely pathogenicrs193922596GRCh37Chr 12, 121426684: 121426686
32HNF1ANM_000545.5(HNF1A): c.441C> A (p.His147Gln)single nucleotide variantLikely pathogenicrs193922597GRCh37Chr 12, 121426750: 121426750
33HNF1ANM_000545.5(HNF1A): c.467C> T (p.Thr156Met)single nucleotide variantLikely pathogenicrs150513055GRCh37Chr 12, 121426776: 121426776
34HNF1ANM_000545.5(HNF1A): c.518_526+37del46deletionLikely pathogenicrs386134267GRCh37Chr 12, 121426827: 121426872
35HNF1ANM_000545.5(HNF1A): c.598C> T (p.Arg200Trp)single nucleotide variantLikely pathogenicrs193922598GRCh37Chr 12, 121431394: 121431394
36HNF1ANM_000545.5(HNF1A): c.666_668delGAA (p.Lys222del)deletionLikely pathogenicrs193922599GRCh37Chr 12, 121431462: 121431464
37HNF1ANM_000545.5(HNF1A): c.670C> T (p.Pro224Ser)single nucleotide variantLikely pathogenicrs193922600GRCh37Chr 12, 121431466: 121431466
38HNF1ANM_000545.5(HNF1A): c.731G> T (p.Arg244Ile)single nucleotide variantLikely pathogenicrs193922602GRCh37Chr 12, 121431984: 121431984
39HNF1ANM_000545.5(HNF1A): c.734G> T (p.Gly245Val)single nucleotide variantLikely pathogenicrs193922603GRCh37Chr 12, 121431987: 121431987
40HNF1ANM_000545.5(HNF1A): c.790G> T (p.Val264Phe)single nucleotide variantLikely pathogenicrs193922604GRCh37Chr 12, 121432043: 121432043
41HNF1ANM_000545.5(HNF1A): c.803T> C (p.Phe268Ser)single nucleotide variantLikely pathogenicrs193922605GRCh37Chr 12, 121432056: 121432056
42HNF1ANM_000545.5(HNF1A): c.827C> G (p.Ala276Gly)single nucleotide variantLikely pathogenicrs137853245GRCh37Chr 12, 121432080: 121432080
43HNF1ANM_000545.5(HNF1A): c.872C> G (p.Pro291Arg)single nucleotide variantLikely pathogenicrs193922606GRCh37Chr 12, 121432125: 121432125
44HNF1ANM_000545.5(HNF1A): c.965A> G (p.Tyr322Cys)single nucleotide variantLikely pathogenicrs140491072GRCh37Chr 12, 121434074: 121434074

Expression for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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Pathways for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Maturity-Onset Diabetes of the Young, Type 3

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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