IDDM20
MCID: DBT034
MIFTS: 22

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

Articles related to Diabetes Mellitus, Insulin-Dependent, 20:

# Title Authors Year
1
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. ( 15649945 )
2005
2
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. ( 12574234 )
2003
3
Bi-allelic inactivation of TCF1 in hepatic adenomas. ( 12355088 )
2002
4
Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes. ( 11668618 )
2001
5
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. ( 11058894 )
2000
6
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. ( 9439666 )
1997
7
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. ( 9313763 )
1997
8
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. ( 9032114 )
1997
9
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) ( 8945470 )
1996
10
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. ( 8866553 )
1996

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 (show all 18)
# 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.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh37 Chromosome 12, 121435307: 121435307
4 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh38 Chromosome 12, 120997504: 120997504
5 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh37 Chromosome 12, 121432068: 121432068
6 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh38 Chromosome 12, 120994265: 120994265
7 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh37 Chromosome 12, 121437409: 121437409
8 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh38 Chromosome 12, 120999606: 120999606
9 HNF1A NM_000545.6(HNF1A): c.142del (p.Glu48Serfs) deletion Pathogenic GRCh37 Chromosome 12, 121416713: 121416713
10 HNF1A NM_000545.6(HNF1A): c.142del (p.Glu48Serfs) deletion Pathogenic GRCh38 Chromosome 12, 120978910: 120978910
11 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 GRCh37 Chromosome 12, 121416663: 121416663
12 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 GRCh38 Chromosome 12, 120978860: 120978860
13 HNF1A NM_000545.6(HNF1A): c.1135C> G (p.Pro379Ala) single nucleotide variant Pathogenic/Likely pathogenic rs754729248 GRCh37 Chromosome 12, 121434371: 121434371
14 HNF1A NM_000545.6(HNF1A): c.1135C> G (p.Pro379Ala) single nucleotide variant Pathogenic/Likely pathogenic rs754729248 GRCh38 Chromosome 12, 120996568: 120996568
15 HNF1A NM_000545.6(HNF1A): c.1501+6C> T single nucleotide variant Uncertain significance rs374306837 GRCh38 Chromosome 12, 120997671: 120997671
16 HNF1A NM_000545.6(HNF1A): c.1501+6C> T single nucleotide variant Uncertain significance rs374306837 GRCh37 Chromosome 12, 121435474: 121435474
17 HNF1A NM_000545.6(HNF1A): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs1555212014 GRCh37 Chromosome 12, 121432067: 121432067
18 HNF1A NM_000545.6(HNF1A): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs1555212014 GRCh38 Chromosome 12, 120994264: 120994264

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

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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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