MODY13
MCID: MTR075
MIFTS: 40

Maturity-Onset Diabetes of the Young, Type 13 (MODY13)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 13

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 13:

Name: Maturity-Onset Diabetes of the Young, Type 13 57 75 29 6
Mody13 57 12 75
Maturity-Onset Diabetes of the Young Type 13 12 15
Mody Type 13 12 75
Diabetes of the Young, Maturity-Onset, Type 13 40
Maturity-Onset Diabetes of the Young 13 75
Mody, Type 13 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes to mody to impaired fasting glucose or impaired glucose tolerance
treatment with sulfonylurea can be effective


HPO:

32
maturity-onset diabetes of the young, type 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616329
Disease Ontology 12 DOID:0111110
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005 11687002

Summaries for Maturity-Onset Diabetes of the Young, Type 13

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 13: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 13, also known as mody13, is related to maturity-onset diabetes of the young and cardiomyopathy, dilated, 1o. An important gene associated with Maturity-Onset Diabetes of the Young, Type 13 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Affiliated tissues include liver and pancreas, and related phenotypes are maternal diabetes and maturity-onset diabetes of the young

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.

Description from OMIM: 616329

Related Diseases for Maturity-Onset Diabetes of the Young, Type 13

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 28.8 ABCC8 BLK GCK HNF1A HNF4A INS
2 cardiomyopathy, dilated, 1o 10.2 ABCC8 KCNJ11
3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 ABCC8 KCNJ11
4 hyperinsulinemic hypoglycemia, familial, 2 10.2 HNF4A KCNJ11
5 cantu syndrome 10.1 ABCC8 KCNJ11
6 usher syndrome, type ic 10.1 ABCC8 KCNJ11
7 laryngeal tuberculosis 10.1 CDK9 KCNJ11
8 hemometra 10.1 KCNJ11 PTPRN
9 maturity-onset diabetes of the young, type 9 10.1 INS PAX4
10 maturity-onset diabetes of the young, type 10 10.1 INS KCNJ11
11 hirata disease 10.1 ABCC8 INS
12 hyperinsulinemic hypoglycemia, familial, 3 10.1 ABCC8 GCK
13 insulinomatosis and diabetes mellitus 10.1 ABCC8 INS
14 fanconi-bickel syndrome 10.1 ABCC8 INS
15 diabetes mellitus, ketosis-prone 10.0 INS PAX4
16 munchausen by proxy 10.0 ABCC8 GCK KCNJ11
17 type 1 diabetes mellitus 11 10.0 HNF1A INS
18 pancreas disease 10.0 ABCC8 INS KCNJ11
19 acute insulin response 10.0 ABCC8 INS KCNJ11
20 thiamine-responsive megaloblastic anemia syndrome 10.0 ABCC8 INS KCNJ11
21 diabetes mellitus, transient neonatal, 1 10.0 ABCC8 INS KCNJ11
22 maturity-onset diabetes of the young, type 4 10.0 GCK HNF1A HNF4A
23 type 1 diabetes mellitus 13 10.0 INS PTPRN
24 maturity-onset diabetes of the young, type 14 10.0 ABCC8 GCK HNF1A
25 alstrom syndrome 10.0 INS KCNJ11
26 pancreatic cystadenoma 9.9 INS PTPRN
27 aminoaciduria 9.9 HNF1A HNF4A
28 carbohydrate metabolic disorder 9.9 ABCC8 INS
29 gastrointestinal system benign neoplasm 9.9 INS PTPRN
30 type 1 diabetes mellitus 7 9.9 INS NEUROD1 PTPRN
31 renal cysts and diabetes syndrome 9.9 GCK HNF1A HNF4A NEUROD1
32 autosomal genetic disease 9.8 GCK HNF1A INS
33 hypoglycemia 9.8 ABCC8 GCK INS KCNJ11
34 endocrine pancreas disease 9.8 ABCC8 GCK INS KCNJ11
35 pancreatic agenesis 9.8 ABCC8 GCK INS KCNJ11
36 diabetes mellitus, permanent neonatal 9.8 ABCC8 GCK INS KCNJ11
37 acquired metabolic disease 9.8 ABCC8 GCK INS KCNJ11
38 type 1 diabetes mellitus 5 9.8 INS LAD1
39 maturity-onset diabetes of the young, type 2 9.8 GCK HNF1A HNF4A INS
40 hyperinsulinemic hypoglycemia 9.7 ABCC8 GCK HNF4A INS KCNJ11
41 hyperinsulinism 9.7 ABCC8 GCK HNF4A INS KCNJ11
42 insulinoma 9.7 ABCC8 GCK INS PTPRN
43 hyperglycemia 9.7 ABCC8 GCK HNF1A INS KCNJ11
44 maturity-onset diabetes of the young, type 3 9.6 GCK HNF1A HNF4A INS NEUROD1
45 gestational diabetes 9.6 GCK HNF4A INS KCNJ11 PTPRN
46 neonatal diabetes mellitus 9.6 ABCC8 GCK INS KCNJ11 KLF11 NEUROD1
47 maturity-onset diabetes of the young, type 7 9.5 GCK HNF1A HNF4A INS KLF11 NEUROD1
48 monogenic diabetes 9.5 ABCC8 GCK HNF1A HNF4A INS KCNJ11
49 maturity-onset diabetes of the young, type 6 9.4 GCK HNF1A HNF4A INS NEUROD1 PTPRN
50 diabetes mellitus, insulin-dependent 9.4 GCK HNF1A INS NEUROD1 PAX4 PTPRN

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 13:



Diseases related to Maturity-Onset Diabetes of the Young, Type 13

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 13

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
gestational diabetes
maturity onset diabetes

Growth Other:
normal bmi


Clinical features from OMIM:

616329

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 13:

32
# Description HPO Frequency HPO Source Accession
1 maternal diabetes 32 HP:0009800
2 maturity-onset diabetes of the young 32 HP:0004904

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with TRAIL GR00154-A 8.8 BLK CDK9 GCK

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.61 ABCC8 BLK GCK HNF1A INS KCNJ11
2 homeostasis/metabolism MP:0005376 9.28 ABCC8 GCK HNF1A HNF4A INS KCNJ11

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 13

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 13

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 13

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 13:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 13 29 KCNJ11

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 13

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 13:

41
Liver, Pancreas

Publications for Maturity-Onset Diabetes of the Young, Type 13

Articles related to Maturity-Onset Diabetes of the Young, Type 13:

# Title Authors Year
1
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. ( 28925365 )
2017

Variations for Maturity-Onset Diabetes of the Young, Type 13

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 13:

75
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Glu227Lys VAR_073686

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
2 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh38 Chromosome 11, 17387968: 17387968
3 KCNJ11 NM_000525.3(KCNJ11): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs587783672 GRCh37 Chromosome 11, 17408960: 17408960
4 KCNJ11 NM_000525.3(KCNJ11): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs587783672 GRCh38 Chromosome 11, 17387413: 17387413
5 KCNJ11 NM_000525.3(KCNJ11): c.967dup (p.Asp323Glyfs) duplication Pathogenic GRCh38 Chromosome 11, 17387125: 17387125
6 KCNJ11 NM_000525.3(KCNJ11): c.967dup (p.Asp323Glyfs) duplication Pathogenic GRCh37 Chromosome 11, 17408672: 17408672

Expression for Maturity-Onset Diabetes of the Young, Type 13

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 13.

Pathways for Maturity-Onset Diabetes of the Young, Type 13

Pathways related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 GCK HNF1A HNF4A INS NEUROD1 PAX4
2
Show member pathways
12.41 ABCC8 GCK INS KCNJ11
3 12.16 HNF1A HNF4A INS NEUROD1
4
Show member pathways
12.01 ABCC8 INS KCNJ11
5
Show member pathways
11.75 GCK HNF1A HNF4A INS NEUROD1
6 11.7 INS NEUROD1 PAX4
7
Show member pathways
11.63 GCK HNF1A HNF4A INS NEUROD1 PAX4
8
Show member pathways
11.15 ABCC8 GCK HNF1A HNF4A INS KCNJ11
9 11.08 ABCC8 GCK HNF1A HNF4A INS KCNJ11
10 10.22 HNF1A HNF4A

GO Terms for Maturity-Onset Diabetes of the Young, Type 13

Cellular components related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

Biological processes related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 CDK9 HNF1A HNF4A NEUROD1 PTPRN
2 transcription by RNA polymerase II GO:0006366 9.85 CDK9 HNF1A HNF4A KLF11 NEUROD1
3 response to drug GO:0042493 9.72 ABCC8 CDK9 KCNJ11 NEUROD1 PAX4
4 glucose metabolic process GO:0006006 9.61 GCK INS KCNJ11
5 positive regulation of cell differentiation GO:0045597 9.58 INS NEUROD1 PAX4
6 negative regulation of insulin secretion GO:0046676 9.55 ABCC8 KCNJ11
7 pancreas development GO:0031016 9.54 HNF1A PAX4
8 insulin secretion GO:0030073 9.54 HNF1A NEUROD1 PTPRN
9 signal transduction involved in regulation of gene expression GO:0023019 9.52 HNF4A NEUROD1
10 cellular glucose homeostasis GO:0001678 9.51 ABCC8 GCK
11 positive regulation of glycogen biosynthetic process GO:0045725 9.49 GCK INS
12 negative regulation of gluconeogenesis GO:0045721 9.48 GCK INS
13 response to glucose GO:0009749 9.46 HNF1A HNF4A NEUROD1 PTPRN
14 endocrine pancreas development GO:0031018 9.43 HNF1A NEUROD1 PAX4
15 glucose homeostasis GO:0042593 9.35 GCK HNF1A HNF4A INS NEUROD1
16 regulation of insulin secretion GO:0050796 9.1 ABCC8 GCK HNF1A HNF4A KCNJ11 NEUROD1

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.46 CDK9 HNF1A NEUROD1 PTPRN
2 double-stranded DNA binding GO:0003690 9.43 HNF1A NEUROD1 PAX4
3 transcription regulatory region DNA binding GO:0044212 9.26 CDK9 HNF1A HNF4A KLF11
4 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Maturity-Onset Diabetes of the Young, Type 13

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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