MCID: MDY004
MIFTS: 26

Mody, Type Iii malady

Genetic diseases, Rare diseases, Liver diseases categories

Aliases & Classifications for Mody, Type Iii

About this section

Mody, Type Iii, Aliases & Descriptions:

Name: Mody, Type Iii 45 10
Maturity-Onset Diabetes of the Young, Type 3 45 41 60
Type 3 Maturity-Onset Diabetes of the Young 41 20 22
Mody Hepatocyte Nuclear Factor-1-Alpha Related 41
 
Diabetes Mellitus Mody Type 3 41
Mody Type 3 41
Mody3 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases


External Ids:

OMIM45 600496

Summaries for Mody, Type Iii

About this section


MalaCards based summary: Mody, Type Iii, also known as maturity-onset diabetes of the young, type 3, is related to maturity-onset diabetes of the young and pancreatitis, and has symptoms including autosomal dominant inheritance, hyperglycemia and infantile onset. An important gene associated with Mody, Type Iii is HNF1A (HNF1 homeobox A).

Description from OMIM:45 600496

Related Diseases for Mody, Type Iii

About this section

Diseases related to Mody, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1maturity-onset diabetes of the young11.0
2pancreatitis10.6
3hepatitis10.4
4diabetic ketoacidosis10.4
5hypoglycemia10.4
6hepatocellular adenoma10.0
7adenoma10.0

Graphical network of diseases related to Mody, Type Iii:



Diseases related to mody, type iii

Symptoms for Mody, Type Iii

About this section

Symptoms by clinical synopsis from OMIM:

600496

Clinical features from OMIM:

600496

HPO human phenotypes related to Mody, Type Iii:

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 Mody, Type Iii

About this section

Drug clinical trials:

Search ClinicalTrials for Mody, Type Iii

Search NIH Clinical Center for Mody, Type Iii

Genetic Tests for Mody, Type Iii

About this section

Genetic tests related to Mody, Type Iii:

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 Mody, Type Iii

About this section

Animal Models for Mody, Type Iii or affiliated genes

About this section

Publications for Mody, Type Iii

About this section

Variations for Mody, Type Iii

About this section

UniProtKB/Swiss-Prot genetic disease variations for Mody, Type Iii:

62 (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 Mody, Type Iii:

6 (show all 44)
id Gene Variation 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.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 Mody, Type Iii

About this section
Search GEO for disease gene expression data for Mody, Type Iii.

Pathways for genes affiliated with Mody, Type Iii

About this section

Compounds for genes affiliated with Mody, Type Iii

About this section

GO Terms for genes affiliated with Mody, Type Iii

About this section

Products for genes affiliated with Mody, Type Iii

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mody, Type Iii

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet