MODY3
MCID: MTR020
MIFTS: 31

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

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

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48OMIM, 34MalaCards
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MalaCards: 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. 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:48 600496

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

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44NIH Rare Diseases, 63UMLS, 21GeneTests, 23GTR, 48OMIM
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Classifications:



Aliases & Descriptions:

maturity-onset diabetes of the young, type 3 44 63
type 3 maturity-onset diabetes of the young 44 21 23
mody hepatocyte nuclear factor-1-alpha related 44
diabetes mellitus mody type 3 44
mody, type iii 48
mody type 3 44
mody3 44


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

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

600496

Clinical features from OMIM:

600496

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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

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21GeneTests, 23GTR
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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 321 HNF1A
2 Maturity-Onset Diabetes of the Young, Type 323

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

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34MalaCards
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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 3:

34
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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53PubMed
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Articles related to Maturity-Onset Diabetes of the Young, Type 3:

idTitleAuthorsYear
1
Arteriovascular calcification leading to diagnosis of maturity-onset diabetes of the young type 3. (23582135)
2013
2
Japanese boy with maturity-onset diabetes of the young type 3 who developed diabetes at 19 months old. (23679181)
2013
3
Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3). (22672869)
2012
4
Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3. (22348187)
2012
5
New HNF-1I+ nonsense mutation causes maturity-onset diabetes of the young type 3. (21437455)
2011
6
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. (17989309)
2008
7
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
8
Diabetic ketoacidosis with a fatal issue: is it a MODY3 (maturity-onset diabetes of the young type 3)?]. (18390429)
2008
9
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
10
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

65 (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:

1 (show all 19)
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 pathogenic, 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 pathogenic, 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.130delC (p.Leu44Trpfs)deletionPathogenicrs193922578GRCh37Chr 12, 121416701: 121416701

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet