IDDM20
MCID: DBT034
MIFTS: 19

Diabetes Mellitus, Insulin-Dependent, 20 (IDDM20)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Insulin-Dependent, 20

MalaCards integrated aliases for Diabetes Mellitus, Insulin-Dependent, 20:

Name: Diabetes Mellitus, Insulin-Dependent, 20 58 76 30 13 6 74
Iddm20 58 12 76
Type 1 Diabetes Mellitus 20 12 15
Diabetes Mellitus, Insulin-Dependent, Type 20 41
Insulin-Dependent Diabetes Mellitus 20 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110757
OMIM 58 612520
MeSH 45 D003922
ICD10 34 E10
MedGen 43 C2675866
SNOMED-CT via HPO 70 46635009
UMLS 74 C2675866

Summaries for Diabetes Mellitus, Insulin-Dependent, 20

UniProtKB/Swiss-Prot : 76 Diabetes mellitus, insulin-dependent, 20: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

MalaCards based summary : Diabetes Mellitus, Insulin-Dependent, 20, is also known as iddm20. An important gene associated with Diabetes Mellitus, Insulin-Dependent, 20 is HNF1A (HNF1 Homeobox A). Affiliated tissues include kidney and eye, and related phenotypes are type i diabetes mellitus and muscle

Disease Ontology : 12 A type 1 diabetes mellitus that has material basis in mutation of the HNF1A gene on chromosome 12q24.31.

Description from OMIM: 612520

Symptoms & Phenotypes for Diabetes Mellitus, Insulin-Dependent, 20

Human phenotypes related to Diabetes Mellitus, Insulin-Dependent, 20:

33
# Description HPO Frequency HPO Source Accession
1 type i diabetes mellitus 33 HP:0100651

Clinical features from OMIM:

612520

MGI Mouse Phenotypes related to Diabetes Mellitus, Insulin-Dependent, 20:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 HNF1A TLR3

Drugs & Therapeutics for Diabetes Mellitus, Insulin-Dependent, 20

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Insulin-Dependent, 20

Genetic Tests for Diabetes Mellitus, Insulin-Dependent, 20

Genetic tests related to Diabetes Mellitus, Insulin-Dependent, 20:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 20 30 HNF1A

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 20

MalaCards organs/tissues related to Diabetes Mellitus, Insulin-Dependent, 20:

42
Kidney, Eye

Publications for Diabetes Mellitus, Insulin-Dependent, 20

Variations for Diabetes Mellitus, Insulin-Dependent, 20

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 20:

76
# Symbol AA change Variation ID SNP ID
1 HNF1A p.Arg272His VAR_003759
2 HNF1A p.Arg583Gly VAR_003761
3 HNF1A p.Glu48Lys VAR_010539
4 HNF1A p.Cys241Gly VAR_010557
5 HNF1A p.Gly415Arg VAR_010565

ClinVar genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh37 Chromosome 12, 121432125: 121432125
2 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh38 Chromosome 12, 120994322: 120994322
3 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh37 Chromosome 12, 121432068: 121432068
4 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh38 Chromosome 12, 120994265: 120994265
5 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh37 Chromosome 12, 121437409: 121437409
6 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh38 Chromosome 12, 120999606: 120999606
7 HNF1A NM_000545.6(HNF1A): c.142del (p.Glu48Serfs) deletion Pathogenic GRCh37 Chromosome 12, 121416713: 121416713
8 HNF1A NM_000545.6(HNF1A): c.142del (p.Glu48Serfs) deletion Pathogenic GRCh38 Chromosome 12, 120978910: 120978910

Expression for Diabetes Mellitus, Insulin-Dependent, 20

Search GEO for disease gene expression data for Diabetes Mellitus, Insulin-Dependent, 20.

Pathways for Diabetes Mellitus, Insulin-Dependent, 20

GO Terms for Diabetes Mellitus, Insulin-Dependent, 20

Biological processes related to Diabetes Mellitus, Insulin-Dependent, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.62 HNF1A TLR3

Sources for Diabetes Mellitus, Insulin-Dependent, 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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