MCID: RRD013
MIFTS: 32

Rare Diabetes Mellitus Type 2

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

Aliases & Classifications for Rare Diabetes Mellitus Type 2

MalaCards integrated aliases for Rare Diabetes Mellitus Type 2:

Name: Rare Diabetes Mellitus Type 2 59
Rare Insulin-Independent Diabetes Mellitus 59

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

UMLS via Orphanet 73 C0011860
Orphanet 59 ORPHA181376

Summaries for Rare Diabetes Mellitus Type 2

MalaCards based summary : Rare Diabetes Mellitus Type 2, also known as rare insulin-independent diabetes mellitus, is related to maturity-onset diabetes of the young, type 14 and munchausen by proxy. An important gene associated with Rare Diabetes Mellitus Type 2 is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Related phenotypes are no effect and endocrine/exocrine gland

Related Diseases for Rare Diabetes Mellitus Type 2

Diseases in the Diabetes Mellitus family:

Diabetes Mellitus, Congenital Autoimmune Type 1 Diabetes Mellitus 2
Type 1 Diabetes Mellitus 3 Type 1 Diabetes Mellitus 4
Type 1 Diabetes Mellitus 5 Type 1 Diabetes Mellitus 6
Type 1 Diabetes Mellitus 7 Type 1 Diabetes Mellitus 8
Type 1 Diabetes Mellitus 10 Type 1 Diabetes Mellitus 11
Type 1 Diabetes Mellitus 12 Type 1 Diabetes Mellitus 13
Type 1 Diabetes Mellitus 15 Type 1 Diabetes Mellitus 17
Type 1 Diabetes Mellitus 18 Rare Diabetes Mellitus Type 1
Rare Diabetes Mellitus Type 2 Rare Diabetes Mellitus

Diseases related to Rare Diabetes Mellitus Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 14 10.4 HNF1A GCK ABCC8
2 munchausen by proxy 10.3 KCNJ11 GCK ABCC8
3 cardiomyopathy, dilated, 1o 10.3 KCNJ11 ABCC8
4 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.3 KCNJ11 ABCC8
5 pancreatic agenesis 10.3 KCNJ11 GCK ABCC8
6 maturity-onset diabetes of the young, type 4 10.2 HNF4A HNF1B HNF1A GCK
7 maturity-onset diabetes of the young, type 2 10.2 HNF4A HNF1B HNF1A GCK
8 diabetes mellitus, permanent neonatal 10.2 KCNJ11 GCK ABCC8
9 insulin-like growth factor i 10.1 IRS1 INSR AKT2
10 endocrine pancreas disease 10.1 KCNJ11 IRS1 GCK ABCC8
11 hypoglycemia 10.0 KCNJ11 INSR GCK AKT2 ABCC8
12 maturity-onset diabetes of the young, type 3 10.0 NEUROD1 HNF4A HNF1B HNF1A GCK
13 glucose intolerance 10.0 IRS1 INSR GCK
14 hyperinsulinemic hypoglycemia 9.9 KCNJ11 INSR HNF4A GCK ABCC8
15 renal cysts and diabetes syndrome 9.9 NEUROD1 HNF4A HNF1B HNF1A GCK
16 hyperinsulinism 9.9 KCNJ11 INSR HNF4A GCK ABCC8
17 insulinoma 9.8 WFS1 SLC2A2 GCK ABCC8
18 diabetes mellitus, insulin-dependent 9.8 WFS1 PAX4 HNF1A GCK
19 glucose metabolism disease 9.8 SLC2A2 KCNJ11 IRS1 GCK ABCC8
20 acquired metabolic disease 9.8 SLC2A2 KCNJ11 IRS1 GCK ABCC8
21 monogenic diabetes 9.7 PAX4 KCNJ11 HNF4A HNF1A GCK ABCC8
22 neonatal diabetes mellitus 9.6 SLC2A2 NEUROD1 KCNJ11 HNF1B GCK ABCC8
23 maturity-onset diabetes of the young, type 6 9.5 NEUROD1 HNF4A HNF1B HNF1A GCK CAPN10
24 maturity-onset diabetes of the young, type 7 9.5 NEUROD1 HNF4A HNF1B HNF1A GCK CAPN10
25 polycystic ovary syndrome 9.5 IRS1 INSR CAPN10
26 gestational diabetes 9.5 KCNJ11 IRS1 INSR HNF4A GCK CAPN10
27 maturity-onset diabetes of the young, type 13 9.4 PAX4 NEUROD1 KCNJ11 HNF4A HNF1A GCK
28 hyperglycemia 9.3 SLC2A2 KCNJ11 IRS1 INSR HNF1A GCK
29 body mass index quantitative trait locus 11 9.0 SLC2A2 IRS1 INSR GCK ENPP1 CAPN10
30 maturity-onset diabetes of the young 8.6 SLC2A2 PAX4 NEUROD1 KCNJ11 IRS1 HNF4A
31 diabetes mellitus 5.5 WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11
32 diabetes mellitus, noninsulin-dependent 4.9 WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11
33 maturity-onset diabetes of the young, type 1 4.9 WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11

Graphical network of the top 20 diseases related to Rare Diabetes Mellitus Type 2:



Diseases related to Rare Diabetes Mellitus Type 2

Symptoms & Phenotypes for Rare Diabetes Mellitus Type 2

GenomeRNAi Phenotypes related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCC8 AKT2 CAPN10 ENPP1 GCGR GCK

MGI Mouse Phenotypes related to Rare Diabetes Mellitus Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.31 ABCC8 AKT2 CAPN10 GCGR GCK GPD2
2 growth/size/body region MP:0005378 10.3 AKT2 CAPN10 ENPP1 GCGR GCK GPD2
3 homeostasis/metabolism MP:0005376 10.28 ABCC8 AKT2 CAPN10 ENPP1 GCGR GCK
4 behavior/neurological MP:0005386 10.13 ENPP1 GCGR GPD2 HNF1A INSR KCNJ11
5 adipose tissue MP:0005375 10.11 AKT2 CAPN10 ENPP1 GCGR GPD2 HNF1A
6 liver/biliary system MP:0005370 10.07 AKT2 CAPN10 ENPP1 GCGR GCK GPD2
7 mortality/aging MP:0010768 10.06 AKT2 ENPP1 GCGR GCK GPD2 HNF1A
8 muscle MP:0005369 9.56 AKT2 ENPP1 HNF1A HNF1B INSR IRS1
9 renal/urinary system MP:0005367 9.17 CAPN10 ENPP1 GCK HNF1A HNF1B INSR

Drugs & Therapeutics for Rare Diabetes Mellitus Type 2

Search Clinical Trials , NIH Clinical Center for Rare Diabetes Mellitus Type 2

Genetic Tests for Rare Diabetes Mellitus Type 2

Anatomical Context for Rare Diabetes Mellitus Type 2

Publications for Rare Diabetes Mellitus Type 2

Variations for Rare Diabetes Mellitus Type 2

ClinVar genetic disease variations for Rare Diabetes Mellitus Type 2:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PPARG NM_138712.3(PPARG): c.-2-29900A> G single nucleotide variant association rs1553638903 3:12391303-12391303 3:12349804-12349804
2 PPARG NM_138712.3(PPARG): c.-2-29880A> T single nucleotide variant association rs1553638909 3:12391323-12391323 3:12349824-12349824
3 PPARG NM_138712.3(PPARG): c.-2-28918A> C single nucleotide variant association rs948820149 3:12392285-12392285 3:12350786-12350786
4 SLC2A2 NM_000340.2(SLC2A2): c.1331G> A (p.Trp444Ter) single nucleotide variant Affects rs1553784995 3:170716025-170716025 3:170998236-170998236
5 SLC30A8 NM_001172813.2(SLC30A8): c.265C> T (p.Arg89Ter) single nucleotide variant protective rs200185429 8:118165323-118165323 8:117153084-117153084
6 SLC30A8 NM_001172813.2(SLC30A8): c.-47_-41del deletion protective rs587777582 8:118159222-118159228 8:117146983-117146989
7 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 20:43034835-43034835 20:44406195-44406195
8 GCK NM_000162.5(GCK): c.766G> A (p.Glu256Lys) single nucleotide variant Pathogenic rs769268803 7:44187346-44187346 7:44147747-44147747
9 NEUROD1 NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu) single nucleotide variant Pathogenic rs104893649 2:182543256-182543256 2:181678529-181678529
10 KCNJ11 NM_000525.3(KCNJ11): c.967dup (p.Asp323fs) duplication Pathogenic rs1554901596 11:17408672-17408672 11:17387125-17387125
11 GCK NM_000162.5(GCK): c.544G> A (p.Val182Met) single nucleotide variant Pathogenic rs587780345 7:44189603-44189603 7:44150004-44150004
12 HNF1A NM_000545.6(HNF1A): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs1555212014 12:121432067-121432067 12:120994264-120994264
13 SLC2A2 NM_000340.2(SLC2A2): c.963+1G> A single nucleotide variant Pathogenic rs371977235 3:170723073-170723073 3:171005284-171005284
14 ABCC8 NM_000352.5(ABCC8): c.221G> A (p.Arg74Gln) single nucleotide variant Pathogenic rs72559734 11:17496502-17496502 11:17474955-17474955
15 GCK NM_000162.5(GCK): c.667G> A (p.Gly223Ser) single nucleotide variant Pathogenic rs1360415315 7:44189371-44189371 7:44149772-44149772
16 MAPK8IP1 NM_005456.4(MAPK8IP1): c.176G> A (p.Ser59Asn) single nucleotide variant Pathogenic rs119489103 11:45919710-45919710 11:45898159-45898159
17 WFS1 NM_006005.3(WFS1): c.330C> A (p.Tyr110Ter) single nucleotide variant Pathogenic rs1553876668 4:6290728-6290728 4:6289001-6289001
18 PDX1 NM_000209.4(PDX1): c.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 13:28498478-28498478 13:27924341-27924341
19 ABCC8 NM_000352.5(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 11:17417462-17417462 11:17395915-17395915
20 ABCC8 NM_000352.5(ABCC8): c.1744C> G (p.Leu582Val) single nucleotide variant Pathogenic rs137852674 11:17452434-17452434 11:17430887-17430887
21 HNF1B NM_000458.4(HNF1B): c.1395C> G (p.Ser465Arg) single nucleotide variant Pathogenic rs121918673 17:36061127-36061127 17:37701122-37701122
22 PAX4 NM_001366110.1(PAX4): c.385C> T (p.Arg129Trp) single nucleotide variant Pathogenic rs114202595 7:127254587-127254587 7:127614533-127614533
23 AKT2 NM_001626.6(AKT2): c.821G> A (p.Arg274His) single nucleotide variant Pathogenic rs121434593 19:40743886-40743886 19:40237979-40237979
24 INSR NM_000208.4(INSR): c.3572G> A (p.Arg1191Gln) single nucleotide variant Pathogenic rs121913150 19:7120718-7120718 19:7120707-7120707
25 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 12:121435307-121435307 12:120997504-120997504
26 GPD2 NM_001083112.3(GPD2): c.1904T> C (p.Phe635Ser) single nucleotide variant Pathogenic rs121918407 2:157435621-157435621 2:156579109-156579109
27 GCGR NM_000160.5(GCGR): c.118G> A (p.Gly40Ser) single nucleotide variant Pathogenic rs1801483 17:79767715-79767715 17:81809839-81809839
28 IRS1 NM_005544.2(IRS1): c.2164_2166GGT[1] (p.Gly723del) short repeat Pathogenic 2:227661286-227661288 2:226796570-226796572
29 IRS1 NM_005544.2(IRS1): c.1823C> G (p.Thr608Arg) single nucleotide variant Pathogenic rs104893642 2:227661632-227661632 2:226796916-226796916
30 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267607196 11:17408795-17408795 11:17387248-17387248
31 HNF1A NM_000545.6(HNF1A): c.1135C> G (p.Pro379Ala) single nucleotide variant Pathogenic/Likely pathogenic rs754729248 12:121434371-121434371 12:120996568-120996568
32 ABCC8 NM_000352.5(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs72559715 11:17415926-17415926 11:17394379-17394379
33 ABCC8 NM_000352.5(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 11:17417158-17417158 11:17395611-17395611
34 GCK NM_000162.5(GCK): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic/Likely pathogenic rs148311934 7:44189362-44189362 7:44149763-44149763
35 ABCC8 NM_000352.5(ABCC8): c.2506C> T (p.Arg836Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 11:17434263-17434263 11:17412716-17412716
36 IL6 IL6, -174G-C single nucleotide variant risk factor
37 GCK NM_000162.5(GCK): c.1358C> T (p.Ser453Leu) single nucleotide variant Likely pathogenic rs193922283 7:44184775-44184775 7:44145176-44145176
38 RETN RETN, +62G-A single nucleotide variant risk factor
39 RBPJL NC_000020.10: g.43914005C> G single nucleotide variant risk factor rs76474829 20:43914005-43914005 20:45285365-45285365
40 RBPJL NM_014276.4(RBPJL): c.839C> T (p.Thr280Met) single nucleotide variant risk factor rs200998587 20:43942756-43942756 20:45314116-45314116
41 PDX1 NM_000209.4(PDX1): c.590G> A (p.Arg197His) single nucleotide variant risk factor rs137852786 13:28498576-28498576 13:27924439-27924439
42 WRN NM_000553.5(WRN): c.724+1G> T single nucleotide variant Likely pathogenic rs1339616347 8:30925844-30925844 8:31068328-31068328
43 TCF7L2 NM_030756.5(TCF7L2): c.382-41435C> T single nucleotide variant drug response rs7903146 10:114758349-114758349 10:112998590-112998590
44 TCF7L2 NM_030756.5(TCF7L2): c.483+9017G> T single nucleotide variant risk factor rs12255372 10:114808902-114808902 10:113049143-113049143
45 TCF7L2 NM_030756.5(TCF7L2): c.483+7162G> C single nucleotide variant risk factor rs11196205 10:114807047-114807047 10:113047288-113047288
46 ABCC8 ; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response rs5219 11:17409572-17409572 11:17388025-17388025
47 ABCC8 NM_000352.5(ABCC8): c.290+2T> C single nucleotide variant Likely pathogenic rs1554948310 11:17496431-17496431 11:17474884-17474884
48 IGF2BP2 NM_006548.6(IGF2BP2): c.239+29254C> A single nucleotide variant risk factor rs4402960 3:185511687-185511687 3:185793899-185793899
49 CAPN10 NM_023083.4(CAPN10): c.471-176G> A single nucleotide variant risk factor rs3792267 2:241531174-241531174 2:240591757-240591757
50 CAPN10 NM_023083.4(CAPN10): c.997+136_998-148dup duplication risk factor rs3842570 2:241534262-241534293 2:240594845-240594876

Expression for Rare Diabetes Mellitus Type 2

Search GEO for disease gene expression data for Rare Diabetes Mellitus Type 2.

Pathways for Rare Diabetes Mellitus Type 2

Pathways related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 SLC2A2 PAX4 NEUROD1 IRS1 HNF4A HNF1B
2
Show member pathways
12.73 SLC2A2 KCNJ11 GCK AKT2 ABCC8
3 12.41 WFS1 NEUROD1 IRS1 INSR HNF4A HNF1A
4
Show member pathways
12.39 IRS1 INSR ENPP1 AKT2
5
Show member pathways
12.35 SLC2A2 IRS1 GCK AKT2
6
Show member pathways
12.34 HNF4A HNF1B HNF1A AKT2
7
Show member pathways
12.29 IRS1 INSR HNF4A AKT2
8 12.28 HNF4A HNF1B HNF1A AKT2
9
Show member pathways
12.23 SLC2A2 KCNJ11 GCGR ABCC8
10 11.92 SLC2A2 PAX4 NEUROD1 HNF1B
11
Show member pathways
11.89 SLC2A2 NEUROD1 INSR HNF4A HNF1B HNF1A
12
Show member pathways
11.85 HNF4A HNF1B HNF1A AKT2
13 11.85 IRS1 INSR AKT2
14
Show member pathways
11.82 SLC2A2 IRS1 INSR AKT2
15 11.76 SLC2A2 GCK GCGR AKT2
16
Show member pathways
11.56 SLC2A2 PAX4 NEUROD1 HNF4A HNF1B HNF1A
17 11.55 SLC2A2 GCK AKT2
18 11.44 IRS1 INSR AKT2
19 11.39 KCNJ11 IRS1 AKT2 ABCC8
20 11.32 IRS1 INSR AKT2
21
Show member pathways
11.3 SLC2A2 NEUROD1 KCNJ11 IRS1 INSR HNF4A
22 11.28 SLC2A2 KCNJ11 HNF4A HNF1A GCK ABCC8
23
Show member pathways
10.78 IRS1 INSR AKT2
24 10.45 HNF4A HNF1A

GO Terms for Rare Diabetes Mellitus Type 2

Cellular components related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor complex GO:0005899 8.96 IRS1 INSR
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.91 PAX4 MAPK8IP1 HNF1B AKT2
2 response to drug GO:0042493 9.91 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
3 carbohydrate metabolic process GO:0005975 9.88 SLC2A2 INSR GCK AKT2
4 insulin receptor signaling pathway GO:0008286 9.77 IRS1 INSR AKT2
5 glucose metabolic process GO:0006006 9.73 KCNJ11 GCK AKT2
6 response to glucose GO:0009749 9.71 NEUROD1 HNF4A HNF1B HNF1A
7 insulin secretion GO:0030073 9.67 NEUROD1 HNF1B HNF1A
8 positive regulation of glucose import GO:0046326 9.67 IRS1 INSR CAPN10 AKT2
9 negative regulation of insulin secretion GO:0046676 9.65 KCNJ11 IRS1 ABCC8
10 hindbrain development GO:0030902 9.63 NEUROD1 HNF1B
11 endocrine pancreas development GO:0031018 9.63 PAX4 NEUROD1 HNF1A
12 cellular response to insulin stimulus GO:0032869 9.63 IRS1 INSR GCK ENPP1 CAPN10 AKT2
13 signal transduction involved in regulation of gene expression GO:0023019 9.62 NEUROD1 HNF4A
14 cellular glucose homeostasis GO:0001678 9.62 GCK ABCC8
15 pancreas development GO:0031016 9.62 WFS1 PAX4 HNF1B HNF1A
16 hepatocyte differentiation GO:0070365 9.61 HNF4A HNF1B
17 positive regulation of glucose metabolic process GO:0010907 9.59 IRS1 AKT2
18 positive regulation of fatty acid beta-oxidation GO:0032000 9.58 IRS1 AKT2
19 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.57 HNF1B HNF1A
20 positive regulation of glycogen biosynthetic process GO:0045725 9.56 IRS1 INSR GCK AKT2
21 regulation of cell cycle arrest GO:0071156 9.55 NEUROD1 AKT2
22 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.54 WFS1 NEUROD1
23 regulation of pronephros size GO:0035565 9.43 HNF1B HNF1A
24 regulation of insulin secretion GO:0050796 9.43 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
25 glucose homeostasis GO:0042593 9.23 WFS1 NEUROD1 IRS1 INSR HNF4A HNF1A
26 regulation of transcription, DNA-templated GO:0006355 10.17 PAX4 NEUROD1 MAPK8IP1 INSR HNF4A HNF1A
27 positive regulation of transcription, DNA-templated GO:0045893 10 NEUROD1 INSR HNF4A HNF1B HNF1A HMGA1

Molecular functions related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 PAX4 NEUROD1 HNF4A HNF1B HNF1A
2 insulin-like growth factor receptor binding GO:0005159 8.96 IRS1 INSR
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.32 KCNJ11

Sources for Rare Diabetes Mellitus Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....