IDDM20
MCID: DBT034
MIFTS: 38

Diabetes Mellitus, Insulin-Dependent, 20 (IDDM20)

Categories: Genetic diseases, Metabolic diseases

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

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

Name: Diabetes Mellitus, Insulin-Dependent, 20 56 73 29 13 6 71
Iddm20 56 12 73
Type 1 Diabetes Mellitus 20 12 15
Diabetes Mellitus, Insulin-Dependent, Type 20 39
Insulin-Dependent Diabetes Mellitus 20 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110757
OMIM 56 612520
MeSH 43 D003922
ICD10 32 E10
MedGen 41 C2675866
SNOMED-CT via HPO 68 46635009
UMLS 71 C2675866

Summaries for Diabetes Mellitus, Insulin-Dependent, 20

UniProtKB/Swiss-Prot : 73 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, also known as iddm20, is related to mechanical strabismus and familial thyroid dyshormonogenesis. An important gene associated with Diabetes Mellitus, Insulin-Dependent, 20 is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Glucose / Energy Metabolism and NF-kappaB Signaling. Affiliated tissues include eye and kidney, and related phenotypes are type i diabetes mellitus and growth/size/body region

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

More information from OMIM: 612520

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 20

Diseases in the Diabetes Mellitus, Insulin-Dependent, 20 family:

Diabetes Mellitus, Insulin-Dependent, 2 Diabetes Mellitus, Insulin-Dependent, 3
Diabetes Mellitus, Insulin-Dependent, 4 Diabetes Mellitus, Insulin-Dependent, 5
Diabetes Mellitus, Insulin-Dependent, 7 Diabetes Mellitus, Insulin-Dependent, 8
Diabetes Mellitus, Insulin-Dependent, 11 Diabetes Mellitus, Insulin-Dependent, 13
Diabetes Mellitus, Insulin-Dependent, 12 Diabetes Mellitus, Insulin-Dependent, 15
Diabetes Mellitus, Insulin-Dependent, 6 Diabetes Mellitus, Insulin-Dependent, 10
Diabetes Mellitus, Insulin-Dependent, 17 Diabetes Mellitus, Insulin-Dependent, 18
Diabetes Mellitus, Insulin-Dependent, 19 Diabetes Mellitus, Insulin-Dependent, 21
Diabetes Mellitus, Insulin-Dependent, 22 Diabetes Mellitus, Insulin-Dependent, 23
Diabetes Mellitus, Insulin-Dependent, 24

Diseases related to Diabetes Mellitus, Insulin-Dependent, 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 mechanical strabismus 10.4 TPO TG
2 familial thyroid dyshormonogenesis 10.4 TPO TG
3 iodine hypothyroidism 10.4 TPO TG
4 nonencapsulated sclerosing carcinoma 10.4 TPO TG
5 postsurgical hypothyroidism 10.4 TPO TG
6 acute thyroiditis 10.4 TPO TG
7 thyroid crisis 10.4 TPO TG
8 toxic diffuse goiter 10.4 TPO TG
9 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.4 TPO TG
10 thyroid lymphoma 10.4 TPO TG
11 subacute lymphocytic thyroiditis 10.4 TPO TG
12 endemic goiter 10.3 TPO TG
13 orange allergy 10.3 TPO DACT1
14 plummer's disease 10.3 TPO TG
15 secondary adrenal insufficiency 10.1 INS IGF1
16 autoimmune polyendocrine syndrome, type ii 10.1 TPO INS
17 hypothalamic obesity 10.1 INS IGF1
18 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.1 INS IGF1
19 pituitary infarct 10.1 INS IGF1
20 acidophil adenoma 10.1 INS IGF1
21 congenital hypothyroidism 10.1 TPO TG IGF1
22 potter's syndrome 10.1 INS IGF1
23 fatty liver disease, nonalcoholic 1 10.1 INS FABP1
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 TPO TG INS
25 graves disease 1 10.1 TPO TG INS
26 adrenal cortical hypofunction 10.1 TPO TG INS
27 adrenal cortex disease 10.1 TPO TG INS
28 autoimmune disease of endocrine system 10.0 TPO TG INS
29 marasmus 10.0 INS IGF1
30 autoimmune polyendocrine syndrome 10.0 TPO TG INS
31 autoimmune disease of gastrointestinal tract 10.0 TPO TG INS
32 nontoxic goiter 10.0 TPO TG
33 thyroiditis 10.0 TPO TG INS
34 sheehan syndrome 10.0 INS IGF1
35 diabetic encephalopathy 10.0 INS IGF1
36 singleton-merten syndrome 10.0 IFIH1 DDX58
37 hepatitis a 10.0 TLR3 INS HAVCR1
38 fetal macrosomia 10.0 INS IGF1
39 pyuria 9.9 LCN2 HAVCR1
40 parathyroid gland disease 9.9 TG INS IGF1
41 acute kidney tubular necrosis 9.9 LCN2 HAVCR1 FABP1
42 hypoparathyroidism 9.9 TPO INS IGF1
43 asbestos-related lung carcinoma 9.9 LTA IGF1
44 herpangina 9.8 TLR3 IFIH1 DDX58
45 coronavirus infectious disease 9.8 TLR3 IFIH1 DDX58
46 microphthalmia with limb anomalies 9.8 TLR3 IFIH1 DDX58
47 croup 9.8 IFIH1 DDX58
48 thyroid gland disease 9.8 TPO TG INS IGF1
49 goiter 9.8 TPO TG INS IGF1
50 turner syndrome 9.8 TPO TG INS IGF1

Graphical network of the top 20 diseases related to Diabetes Mellitus, Insulin-Dependent, 20:



Diseases related to Diabetes Mellitus, Insulin-Dependent, 20

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

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

31
# Description HPO Frequency HPO Source Accession
1 type i diabetes mellitus 31 HP:0100651

Clinical features from OMIM:

612520

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 DACT1 DDX58 HNF1A IFIH1 IGF1 INS
2 hematopoietic system MP:0005397 10.03 DDX58 IFIH1 IGF1 INS LCN2 LTA
3 endocrine/exocrine gland MP:0005379 10.02 HNF1A IGF1 INS LCN2 LTA TG
4 homeostasis/metabolism MP:0005376 9.97 DDX58 FABP1 HNF1A IFIH1 IGF1 INS
5 liver/biliary system MP:0005370 9.5 DDX58 FABP1 HNF1A IFIH1 INS LCN2
6 renal/urinary system MP:0005367 9.17 DACT1 HNF1A IFIH1 IGF1 INS LCN2

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:

40
Eye, Kidney

Publications for Diabetes Mellitus, Insulin-Dependent, 20

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

(show all 16)
# Title Authors PMID Year
1
Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes. 56 6
11668618 2001
2
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 6 56
9313763 1997
3
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 56
19430480 2009
4
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 56
18978792 2008
5
Shared and distinct genetic variants in type 1 diabetes and celiac disease. 56
19073967 2008
6
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 56
17554260 2007
7
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 56
17554300 2007
8
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6
15649945 2005
9
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 6
12574234 2003
10
Bi-allelic inactivation of TCF1 in hepatic adenomas. 6
12355088 2002
11
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 6
11058894 2000
12
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. 6
9439666 1997
13
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 6
9032114 1997
14
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) 6
8945470 1996
15
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. 6
8866553 1996
16
The rat diabetes susceptibility locus Iddm4 and at least one additional gene are required for autoimmune diabetes induced by viral infection. 61
15793267 2005

Variations for Diabetes Mellitus, Insulin-Dependent, 20

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)SNV Pathogenic 447503 rs1555212014 12:121432067-121432067 12:120994264-120994264
2 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs)duplication Pathogenic 14927 rs587776825 12:121432117-121432118 12:120994314-120994315
3 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504
4 HNF1A NM_000545.6(HNF1A):c.815G>A (p.Arg272His)SNV Pathogenic 14931 rs137853238 12:121432068-121432068 12:120994265-120994265
5 HNF1A NM_000545.6(HNF1A):c.142del (p.Glu48fs)deletion Pathogenic 14938 rs1566092470 12:121416709-121416709 12:120978906-120978906
6 HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp)SNV Conflicting interpretations of pathogenicity 14948 rs137853247 12:121416663-121416663 12:120978860-120978860
7 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala)SNV Conflicting interpretations of pathogenicity 431970 rs754729248 12:121434371-121434371 12:120996568-120996568
8 HNF1A NM_000545.6(HNF1A):c.1501+6C>TSNV Conflicting interpretations of pathogenicity 435420 rs374306837 12:121435474-121435474 12:120997671-120997671
9 HNF1A NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly)SNV Uncertain significance 14932 rs137853239 12:121437409-121437409 12:120999606-120999606

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

73
# 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

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

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

# Super pathways Score Top Affiliating Genes
1 12.05 LCN2 INS HNF1A FABP1
2 11.54 UBD TLR3 IFIH1 HAVCR1 DDX58
3 10.81 TPO INS IGF1
4 9.93 TPO TG

GO Terms for Diabetes Mellitus, Insulin-Dependent, 20

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 TLR3 LCN2 INS IGF1 DDX58
2 response to virus GO:0009615 9.67 TLR3 LCN2 IFIH1 DDX58
3 positive regulation of glycogen biosynthetic process GO:0045725 9.54 INS IGF1
4 thyroid hormone generation GO:0006590 9.52 TPO TG
5 positive regulation of interferon-alpha production GO:0032727 9.51 IFIH1 DDX58
6 positive regulation of interferon-beta production GO:0032728 9.5 TLR3 IFIH1 DDX58
7 hormone biosynthetic process GO:0042446 9.49 TPO TG
8 positive regulation of interferon-alpha secretion GO:1902741 9.48 IFIH1 DDX58
9 positive regulation of response to cytokine stimulus GO:0060760 9.43 IFIH1 DDX58
10 positive regulation of interferon-beta secretion GO:0035549 9.4 IFIH1 DDX58
11 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 9.26 IFIH1 DDX58
12 regulation of type III interferon production GO:0034344 9.16 IFIH1 DDX58
13 cellular response to exogenous dsRNA GO:0071360 9.13 TLR3 IFIH1 DDX58
14 detection of virus GO:0009597 8.8 TLR3 IFIH1 DDX58

Molecular functions related to Diabetes Mellitus, Insulin-Dependent, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 TLR3 TG LCN2 INS IFIH1 HNF1A
2 hormone activity GO:0005179 9.43 TG INS IGF1
3 insulin-like growth factor receptor binding GO:0005159 9.16 INS IGF1
4 double-stranded RNA binding GO:0003725 8.8 TLR3 IFIH1 DDX58

Sources for Diabetes Mellitus, Insulin-Dependent, 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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