MCID: MDY005
MIFTS: 22

Mody, Type I malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Mody, Type I

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Mody, Type I, Aliases & Descriptions:

Name: Mody, Type I 45 10
Maturity-Onset Diabetes of the Young, Type 1 45 41 60
Type 1 Maturity-Onset Diabetes of the Young 41 20 22
Diabetes Mellitus Mody Type 1 41
 
Mody Hnf4a Related 41
Mody Type 1 41
Mody1 41


Classifications:

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


External Ids:

OMIM45 125850

Summaries for Mody, Type I

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MalaCards based summary: Mody, Type I, also known as maturity-onset diabetes of the young, type 1, is related to maturity-onset diabetes of the young and leukemia, and has symptoms including autosomal dominant inheritanceand maturity-onset diabetes of the young. An important gene associated with Mody, Type I is HNF4A (hepatocyte nuclear factor 4, alpha).

Description from OMIM:45 125850

Related Diseases for Mody, Type I

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

idRelated DiseaseScoreTop Affiliating Genes
1maturity-onset diabetes of the young10.7
2leukemia10.1
3myeloid leukemia10.1
4pancreatitis10.1

Symptoms for Mody, Type I

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Symptoms by clinical synopsis from OMIM:

125850

Clinical features from OMIM:

125850

HPO human phenotypes related to Mody, Type I:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 maturity-onset diabetes of the young HP:0004904

Drugs & Therapeutics for Mody, Type I

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Drug clinical trials:

Search ClinicalTrials for Mody, Type I

Search NIH Clinical Center for Mody, Type I

Genetic Tests for Mody, Type I

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Genetic tests related to Mody, Type I:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 120 HNF4A
2 Maturity-Onset Diabetes of the Young, Type 122

Anatomical Context for Mody, Type I

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Animal Models for Mody, Type I or affiliated genes

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Publications for Mody, Type I

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Variations for Mody, Type I

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

62
id Symbol AA change Variation ID SNP ID
1HNF4Ap.Arg136TrpVAR_004668rs137853336
2HNF4Ap.Glu285GlnVAR_010601
3HNF4Ap.Met373ArgVAR_071952

Clinvar genetic disease variations for Mody, Type I:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1HNF4ANM_000457.4(HNF4A): c.1163C> G (p.Pro388Arg)single nucleotide variantLikely pathogenicrs193922469GRCh37Chr 20, 43057008: 43057008
2HNF4ANM_000457.4(HNF4A): c.1253G> C (p.Cys418Ser)single nucleotide variantLikely pathogenicrs193922470GRCh37Chr 20, 43057098: 43057098
3HNF4ANM_000457.4(HNF4A): c.347_348delGGinsC (p.Arg116Thrfs)indelLikely pathogenicrs193922471GRCh37Chr 20, 43036077: 43036078
4HNF4ANM_000457.4(HNF4A): c.427A> G (p.Ser143Gly)single nucleotide variantLikely pathogenicrs193922472GRCh37Chr 20, 43042375: 43042375
5HNF4ANM_000457.4(HNF4A): c.505G> A (p.Val169Ile)single nucleotide variantLikely pathogenicrs142204928GRCh37Chr 20, 43043159: 43043159
6HNF4ANM_000457.4(HNF4A): c.619G> C (p.Ala207Pro)single nucleotide variantLikely pathogenicrs193922474GRCh37Chr 20, 43043273: 43043273
7HNF4ANM_000457.4: c.641_648+10del18deletionLikely pathogenicrs193922475GRCh37Chr 20, 43043295: 43043312
8HNF4ANM_000457.4(HNF4A): c.726_728delGCTinsTCAA (p.Leu243Glnfs)indelLikely pathogenicrs193922476GRCh37Chr 20, 43047142: 43047144
9HNF4ANM_000457.4(HNF4A): c.834G> C (p.Glu278Asp)single nucleotide variantLikely pathogenicrs193922477GRCh37Chr 20, 43048458: 43048458
10HNF4ANM_000457.4(HNF4A): c.991C> T (p.Arg331Cys)single nucleotide variantLikely pathogenicrs193922479GRCh37Chr 20, 43052756: 43052756
11HNF4ANM_000457.4(HNF4A): c.997C> T (p.Arg333Cys)single nucleotide variantLikely pathogenicrs193922480GRCh37Chr 20, 43052762: 43052762
12HNF4AHNF4A: c.del_exon4-10deletionLikely pathogenic
13HNF4ANM_000457.4(HNF4A): c.829C> T (p.Gln277Ter)single nucleotide variantPathogenicrs137853334GRCh37Chr 20, 43048453: 43048453
14HNF4ANM_000457.4(HNF4A): c.487C> T (p.Arg163Ter)single nucleotide variantPathogenicrs137853335GRCh37Chr 20, 43042435: 43042435
15HNF4ANM_000457.4(HNF4A): c.406C> T (p.Arg136Trp)single nucleotide variantPathogenicrs137853336GRCh37Chr 20, 43042354: 43042354
16HNF4AHNF4A, 1-BP DEL, PHE75TdeletionPathogenic
17HNF4AHNF4A, IVS5, DEL A, -2deletionPathogenic
18HNF4ANM_000457.4(HNF4A): c.1118T> G (p.Met373Arg)single nucleotide variantPathogenicrs137853338GRCh37Chr 20, 43052883: 43052883

Expression for genes affiliated with Mody, Type I

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Search GEO for disease gene expression data for Mody, Type I.

Pathways for genes affiliated with Mody, Type I

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Compounds for genes affiliated with Mody, Type I

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GO Terms for genes affiliated with Mody, Type I

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Products for genes affiliated with Mody, Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mody, Type I

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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