MCID: DBT034
MIFTS: 19

Diabetes Mellitus, Insulin-Dependent, 20

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

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

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

Name: Diabetes Mellitus, Insulin-Dependent, 20 57 75 29 13 6 73
Iddm20 57 12 75
Type 1 Diabetes Mellitus 20 12 15
Diabetes Mellitus, Insulin-Dependent, Type 20 40
Insulin-Dependent Diabetes Mellitus 20 12

Classifications:



External Ids:

OMIM 57 612520
Disease Ontology 12 DOID:0110757
ICD10 33 E10
MedGen 42 C2675866
MeSH 44 D003922
SNOMED-CT via HPO 69 46635009
UMLS 73 C2675866

Summaries for Diabetes Mellitus, Insulin-Dependent, 20

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

612520

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

32
# Description HPO Frequency HPO Source Accession
1 type i diabetes mellitus 32 HP:0100651

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

46
# 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 29 HNF1A

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 20

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

41
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:

75
# 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 HNF1A, 1-BP DEL, 142G deletion Pathogenic

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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