T1D20
MCID: TYP053
MIFTS: 39

Type 1 Diabetes Mellitus 20 (T1D20)

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

Aliases & Classifications for Type 1 Diabetes Mellitus 20

MalaCards integrated aliases for Type 1 Diabetes Mellitus 20:

Name: Type 1 Diabetes Mellitus 20 57 12 15
Diabetes Mellitus, Insulin-Dependent, 20 57 72 29 13 6 70
Iddm20 57 12 72
Diabetes Mellitus, Insulin-Dependent, 20; Iddm20 57
Diabetes Mellitus, Insulin-Dependent, Type 20 39
Insulin-Dependent Diabetes Mellitus 20 12
T1d20 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0110757
OMIM® 57 612520
MeSH 44 D003922
ICD10 32 E10
MedGen 41 C2675866
SNOMED-CT via HPO 68 46635009
UMLS 70 C2675866

Summaries for Type 1 Diabetes Mellitus 20

UniProtKB/Swiss-Prot : 72 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 : Type 1 Diabetes Mellitus 20, also known as diabetes mellitus, insulin-dependent, 20, is related to mechanical strabismus and iodine hypothyroidism. An important gene associated with Type 1 Diabetes Mellitus 20 is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are NF-kappaB Signaling and Glucose / Energy Metabolism. 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 Type 1 Diabetes Mellitus 20

Diseases in the Diabetes Mellitus family:

Type 1 Diabetes Mellitus 2 Type 2 Diabetes Mellitus
Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus 3
Type 1 Diabetes Mellitus 4 Type 1 Diabetes Mellitus 5
Type 1 Diabetes Mellitus 7 Type 1 Diabetes Mellitus 8
Type 1 Diabetes Mellitus 11 Type 1 Diabetes Mellitus 13
Type 1 Diabetes Mellitus 12 Type 2 Diabetes Mellitus 2
Type 1 Diabetes Mellitus 15 Type 1 Diabetes Mellitus 6
Type 1 Diabetes Mellitus 10 Type 1 Diabetes Mellitus 17
Type 2 Diabetes Mellitus 3 Diabetes Mellitus, Congenital Autoimmune
Type 1 Diabetes Mellitus 18 Type 2 Diabetes Mellitus 4
Type 1 Diabetes Mellitus 19 Type 1 Diabetes Mellitus 20
Type 1 Diabetes Mellitus 21 Type 1 Diabetes Mellitus 22
Type 1 Diabetes Mellitus 23 Type 1 Diabetes Mellitus 24
Type 2 Diabetes 5 Rare Diabetes Mellitus Type 1
Rare Diabetes Mellitus Type 2 Rare Diabetes Mellitus

Diseases related to Type 1 Diabetes Mellitus 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 mechanical strabismus 10.3 TPO TG
2 iodine hypothyroidism 10.3 TPO TG
3 nonencapsulated sclerosing carcinoma 10.3 TPO TG
4 acute thyroiditis 10.3 TPO TG
5 thyroid crisis 10.3 TPO TG
6 toxic diffuse goiter 10.3 TPO TG
7 aspirin allergy 10.3 TPO TG
8 postsurgical hypothyroidism 10.3 TPO TG
9 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.3 TPO TG
10 subacute lymphocytic thyroiditis 10.3 TPO TG
11 endemic goiter 10.3 TPO TG
12 plummer's disease 10.3 TPO TG
13 nontoxic goiter 10.2 TPO TG
14 myxedema 10.2 TPO TG
15 type 1 diabetes mellitus 18 10.2 MAS1L IFIH1
16 hepatic tuberculosis 10.2 HNF1A FABP1
17 liver benign neoplasm 10.1 HNF1A FABP1
18 subacute thyroiditis 10.1 TPO TG
19 asbestos-related lung carcinoma 10.1 LTA IGF1
20 pyuria 10.1 LCN2 HAVCR1
21 secondary adrenal insufficiency 10.1 INS IGF1
22 maturity-onset diabetes of the young, type 4 10.1 INS HNF1A
23 familial periodic paralysis 10.1 SCN2A INS
24 hypothalamic obesity 10.1 INS IGF1
25 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 INS IGF1
26 acidophil adenoma 10.0 INS IGF1
27 pituitary infarct 10.0 INS IGF1
28 potter's syndrome 10.0 INS IGF1
29 marasmus 10.0 INS IGF1
30 sheehan syndrome 10.0 INS IGF1
31 maturity-onset diabetes of the young, type 2 10.0 INS HNF1A
32 diabetic encephalopathy 10.0 INS IGF1
33 fetal macrosomia 10.0 INS IGF1
34 congenital anomalies of kidney and urinary tract 2 10.0 LCN2 HAVCR1
35 zika fever 10.0 TLR3 DDX58
36 pituitary apoplexy 10.0 INS IGF1
37 skin tag 10.0 INS IGF1
38 empty sella syndrome 10.0 INS IGF1
39 suppurative thyroiditis 10.0 TPO TG INS
40 thyroiditis 10.0 TPO TG INS
41 graves disease 1 10.0 TPO TG INS
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 TPO TG INS
43 hyperpituitarism 10.0 INS IGF1
44 maturity-onset diabetes of the young, type 3 10.0 INS HNF1A FABP1
45 adrenal cortical hypofunction 10.0 TPO TG INS
46 adrenal cortex disease 10.0 TPO TG INS
47 autoimmune disease of endocrine system 10.0 TPO TG INS
48 autoimmune polyendocrine syndrome 10.0 TPO TG INS
49 acute kidney tubular necrosis 10.0 LCN2 HAVCR1 FABP1
50 decubitus ulcer 9.9 INS IGF1

Graphical network of the top 20 diseases related to Type 1 Diabetes Mellitus 20:



Diseases related to Type 1 Diabetes Mellitus 20

Symptoms & Phenotypes for Type 1 Diabetes Mellitus 20

Human phenotypes related to Type 1 Diabetes Mellitus 20:

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

Clinical features from OMIM®:

612520 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Type 1 Diabetes Mellitus 20:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.14 DACT1 DDX58 HNF1A IFIH1 IGF1 INS
2 hematopoietic system MP:0005397 10.11 DDX58 FABP1 IFIH1 IGF1 INS LCN2
3 homeostasis/metabolism MP:0005376 10.1 DDX58 FABP1 HNF1A IFIH1 IGF1 INS
4 endocrine/exocrine gland MP:0005379 10.03 HNF1A IGF1 INS LCN2 LTA TG
5 immune system MP:0005387 9.96 DDX58 FABP1 IFIH1 IGF1 INS LCN2
6 liver/biliary system MP:0005370 9.7 DDX58 FABP1 HNF1A IFIH1 INS LCN2
7 mortality/aging MP:0010768 9.7 DACT1 DDX58 HNF1A IFIH1 IGF1 INS
8 skeleton MP:0005390 9.28 DACT1 HNF1A IFIH1 IGF1 INS LCN2

Drugs & Therapeutics for Type 1 Diabetes Mellitus 20

Search Clinical Trials , NIH Clinical Center for Type 1 Diabetes Mellitus 20

Genetic Tests for Type 1 Diabetes Mellitus 20

Genetic tests related to Type 1 Diabetes Mellitus 20:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 20 29 HNF1A

Anatomical Context for Type 1 Diabetes Mellitus 20

Publications for Type 1 Diabetes Mellitus 20

Articles related to Type 1 Diabetes Mellitus 20:

(show all 19)
# Title Authors PMID Year
1
Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes. 6 57
11668618 2001
2
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 57 6
9313763 1997
3
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 57
19430480 2009
4
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 57
18978792 2008
5
Shared and distinct genetic variants in type 1 diabetes and celiac disease. 57
19073967 2008
6
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 57
17554260 2007
7
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 57
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
Sodium-glucose cotransporter 2 inhibition in type 1 diabetes: simultaneous glucose lowering and renal protection? 61
25192954 2014
17
Factors associated with basal insulin dose in Japanese children and young adult type 1 diabetics. 61
24843577 2012
18
The spectrum of clinical paediatric endocrinology: 28 years of referrals to an individual consultant. 61
20367763 2010
19
[Cardiovascular autonomic neuropathy and nephropathy in patients with type-1 diabetes mellitus]. 61
15518324 2004

Variations for Type 1 Diabetes Mellitus 20

ClinVar genetic disease variations for Type 1 Diabetes Mellitus 20:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNF1A NM_000545.6(HNF1A):c.142del (p.Glu48fs) Deletion Pathogenic 14938 rs1566092470 GRCh37: 12:121416709-121416709
GRCh38: 12:120978906-120978906
2 HNF1A NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly) SNV Pathogenic 14932 rs137853239 GRCh37: 12:121437409-121437409
GRCh38: 12:120999606-120999606
3 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) SNV Pathogenic 447503 rs1555212014 GRCh37: 12:121432067-121432067
GRCh38: 12:120994264-120994264
4 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) SNV Pathogenic 14928 rs137853236 GRCh37: 12:121435307-121435307
GRCh38: 12:120997504-120997504
5 HNF1A NM_000545.6(HNF1A):c.815G>A (p.Arg272His) SNV Pathogenic 14931 rs137853238 GRCh37: 12:121432068-121432068
GRCh38: 12:120994265-120994265
6 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) SNV Pathogenic 431970 rs754729248 GRCh37: 12:121434371-121434371
GRCh38: 12:120996568-120996568
7 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs) Duplication Pathogenic 14927 rs587776825 GRCh37: 12:121432117-121432118
GRCh38: 12:120994314-120994315
8 HNF1A NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer) Deletion Pathogenic 1033089 GRCh37: 12:121434130-121434130
GRCh38: 12:120996327-120996327
9 HNF1A NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) SNV Uncertain significance 1033090 GRCh37: 12:121416629-121416629
GRCh38: 12:120978826-120978826
10 HNF1A NM_000545.8(HNF1A):c.894G>A (p.Ala298=) SNV Uncertain significance 982627 GRCh37: 12:121432147-121432147
GRCh38: 12:120994344-120994344
11 HNF1A NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) SNV Uncertain significance 972818 GRCh37: 12:121434371-121434371
GRCh38: 12:120996568-120996568
12 HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) SNV Uncertain significance 14948 rs137853247 GRCh37: 12:121416663-121416663
GRCh38: 12:120978860-120978860
13 HNF1A NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met) SNV Uncertain significance 979117 GRCh37: 12:121434510-121434510
GRCh38: 12:120996707-120996707
14 HNF1A NM_000545.8(HNF1A):c.775G>A (p.Val259Ile) SNV Uncertain significance 998283 GRCh37: 12:121432028-121432028
GRCh38: 12:120994225-120994225
15 HNF1A NM_000545.8(HNF1A):c.824A>C (p.Glu275Ala) SNV Uncertain significance 998284 GRCh37: 12:121432077-121432077
GRCh38: 12:120994274-120994274
16 HNF1A NM_000545.6(HNF1A):c.1624-15G>A SNV Uncertain significance 36806 rs193922585 GRCh37: 12:121437271-121437271
GRCh38: 12:120999468-120999468
17 HNF1A NM_000545.8(HNF1A):c.766T>A (p.Ser256Thr) SNV Uncertain significance 998237 GRCh37: 12:121432019-121432019
GRCh38: 12:120994216-120994216
18 HNF1A NM_000545.6(HNF1A):c.1501+6C>T SNV Uncertain significance 435420 rs374306837 GRCh37: 12:121435474-121435474
GRCh38: 12:120997671-120997671

UniProtKB/Swiss-Prot genetic disease variations for Type 1 Diabetes Mellitus 20:

72
# 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 Type 1 Diabetes Mellitus 20

Search GEO for disease gene expression data for Type 1 Diabetes Mellitus 20.

Pathways for Type 1 Diabetes Mellitus 20

Pathways related to Type 1 Diabetes Mellitus 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.07 TLR3 IFIH1 HAVCR1 DDX58
2 11.95 LCN2 INS HNF1A FABP1
3 11.62 INS IGF1 HNF1A
4 10.48 TPO INS IGF1
5 9.73 TPO TG

GO Terms for Type 1 Diabetes Mellitus 20

Cellular components related to Type 1 Diabetes Mellitus 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 TPO TLR3 TG LTA LCN2 INS

Biological processes related to Type 1 Diabetes Mellitus 20 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 TLR3 LCN2 INS IGF1 DDX58
2 response to oxidative stress GO:0006979 9.72 TPO LCN2 HNF1A
3 response to virus GO:0009615 9.69 TLR3 IFIH1 DDX58
4 positive regulation of interleukin-6 production GO:0032755 9.65 TLR3 IFIH1 DDX58
5 positive regulation of tumor necrosis factor production GO:0032760 9.63 TLR3 IFIH1 DDX58
6 positive regulation of glycolytic process GO:0045821 9.56 INS IGF1
7 positive regulation of glycogen biosynthetic process GO:0045725 9.54 INS IGF1
8 positive regulation of interferon-beta production GO:0032728 9.54 TLR3 IFIH1 DDX58
9 thyroid hormone generation GO:0006590 9.52 TPO TG
10 hormone biosynthetic process GO:0042446 9.49 TPO TG
11 positive regulation of response to cytokine stimulus GO:0060760 9.43 IFIH1 DDX58
12 positive regulation of interferon-alpha production GO:0032727 9.33 TLR3 IFIH1 DDX58
13 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 9.32 IFIH1 DDX58
14 regulation of type III interferon production GO:0034344 9.26 IFIH1 DDX58
15 cellular response to exogenous dsRNA GO:0071360 9.13 TLR3 IFIH1 DDX58
16 detection of virus GO:0009597 8.8 TLR3 IFIH1 DDX58

Molecular functions related to Type 1 Diabetes Mellitus 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 receptor binding GO:0005158 9.32 INS IGF1
4 insulin-like growth factor receptor binding GO:0005159 9.16 INS IGF1
5 double-stranded RNA binding GO:0003725 8.8 TLR3 IFIH1 DDX58

Sources for Type 1 Diabetes Mellitus 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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