MODY9
MCID: MTR026
MIFTS: 35

Maturity-Onset Diabetes of the Young, Type 9 (MODY9)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 9

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 9:

Name: Maturity-Onset Diabetes of the Young, Type 9 57 20 70
Maturity-Onset Diabetes of the Young Type 9 12 29 6 15
Mody9 57 12 20 72
Maturity-Onset Diabetes of the Young, Type Ix 57 13
Mody Type 9 20 72
Diabetes of the Young, Maturity-Onset, Type 9 39
Type 9 Maturity-Onset Diabetes of the Young 20
Maturity-Onset Diabetes of the Young 9 72
Diabetes Mellitus Mody Type 9 20
Mody Pax4 Related 20
Mody-9 72

Characteristics:

HPO:

31
maturity-onset diabetes of the young, type 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111107
OMIM® 57 612225
MeSH 44 D003924
MedGen 41 C2677132
SNOMED-CT via HPO 68 263681008 609561005
UMLS 70 C2677132

Summaries for Maturity-Onset Diabetes of the Young, Type 9

UniProtKB/Swiss-Prot : 72 Maturity-onset diabetes of the young 9: 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 9, also known as maturity-onset diabetes of the young type 9, is related to maturity-onset diabetes of the young and type 1 diabetes mellitus 11. An important gene associated with Maturity-Onset Diabetes of the Young, Type 9 is PAX4 (Paired Box 4), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Related phenotypes are maturity-onset diabetes of the young and shRNA abundance <= 50%

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.

More information from OMIM: 612225

Related Diseases for Maturity-Onset Diabetes of the Young, Type 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 27.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
2 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1
3 acute insulin response 10.1 KCNJ11 ABCC8
4 cardiomyopathy, dilated, 1o 10.1 KCNJ11 ABCC8
5 asphyxia neonatorum 10.1 KCNJ11 ABCC8
6 coronary artery vasospasm 10.0 KCNJ11 ABCC8
7 cantu syndrome 10.0 KCNJ11 ABCC8
8 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
9 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 KCNJ11 ABCC8
10 diabetes mellitus, ketosis-prone 10.0 PAX4 KCNJ11 ABCC8
11 intestinal atresia 10.0 PDX1 GCK
12 umbilical hernia 9.9 KCNJ11 ABCC8
13 exocrine pancreatic insufficiency 9.9 PDX1 CEL
14 hypoglycemia 9.9 KCNJ11 GCK ABCC8
15 munchausen by proxy 9.9 KCNJ11 GCK ABCC8
16 factitious disorder 9.9 KCNJ11 GCK ABCC8
17 hyperinsulinemic hypoglycemia, familial, 7 9.8 KCNJ11 GCK ABCC8
18 hyperinsulinemic hypoglycemia, familial, 6 9.8 KCNJ11 GCK ABCC8
19 hyperinsulinemic hypoglycemia, familial, 2 9.8 KCNJ11 HNF4A ABCC8
20 hyperinsulinemic hypoglycemia, familial, 1 9.8 KCNJ11 ABCC8
21 glucose metabolism disease 9.8 KCNJ11 GCK ABCC8
22 pancreatic cystadenoma 9.7 PDX1 NEUROD1 GCK ABCC8
23 glucose intolerance 9.7 NEUROD1 KCNJ11 GCK ABCC8
24 diabetes mellitus, permanent neonatal, 1 9.7 PDX1 KCNJ11 GCK ABCC8
25 insulinoma 9.6 PDX1 PAX4 NEUROD1 GCK ABCC8
26 gestational diabetes 9.6 KCNJ11 HNF4A GCK ABCC8
27 hyperinsulinism 9.5 KCNJ11 HNF4A GCK ABCC8
28 transient neonatal diabetes mellitus 9.5 PDX1 NEUROD1 KCNJ11 GCK ABCC8
29 maturity-onset diabetes of the young, type 14 9.5 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
30 type 1 diabetes mellitus 9.5 PDX1 PAX4 NEUROD1 HNF4A GCK
31 hyperinsulinemic hypoglycemia 9.4 PDX1 KCNJ11 HNF4A GCK ABCC8
32 hyperglycemia 8.9 PDX1 PAX4 KCNJ11 HNF4A HNF1B GCK
33 neonatal diabetes 8.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF1B
34 maturity-onset diabetes of the young, type 13 8.8 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
35 permanent neonatal diabetes mellitus 8.8 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
36 pancreatic agenesis 8.8 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
37 type 2 diabetes mellitus 8.7 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
38 monogenic diabetes 8.7 PDX1 KLF11 KCNJ11 HNF4A HNF1B GCK
39 maturity-onset diabetes of the young, type 11 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
40 maturity-onset diabetes of the young, type 1 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
41 renal cysts and diabetes syndrome 8.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
42 diabetes mellitus 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
43 maturity-onset diabetes of the young, type 10 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
44 maturity-onset diabetes of the young, type 7 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
45 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 maturity-onset diabetes of the young, type 6 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
47 maturity-onset diabetes of the young, type 4 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
48 maturity-onset diabetes of the young, type 3 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
49 maturity-onset diabetes of the young, type 2 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 9:



Diseases related to Maturity-Onset Diabetes of the Young, Type 9

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 9

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 9:

31
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 31 HP:0004904

Clinical features from OMIM®:

612225 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 BLK CEL GCK GSC KCNJ11 NEUROD1

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 ABCC8 BLK GCK GSC HNF1B HNF4A
2 growth/size/body region MP:0005378 9.65 ABCC8 CEL GCK GSC HNF1B HNF4A
3 homeostasis/metabolism MP:0005376 9.36 ABCC8 BLK CEL GCK HNF1B HNF4A

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 9

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 9

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 9

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 9:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 9 29 PAX4

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 9

Publications for Maturity-Onset Diabetes of the Young, Type 9

Articles related to Maturity-Onset Diabetes of the Young, Type 9:

# Title Authors PMID Year
1
PAX4 mutations in Thais with maturity onset diabetes of the young. 6 57
17426099 2007
2
[Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity]. 61
33009794 2020
3
Generation and Phenotype Identification of PAX4 Gene Knockout Rabbit by CRISPR/Cas9 System. 61
29950431 2018
4
PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects. 61
27334367 2016
5
Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9. 61
25951767 2016

Variations for Maturity-Onset Diabetes of the Young, Type 9

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX4 NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp) SNV Pathogenic 13793 rs121917718 GRCh37: 7:127253858-127253858
GRCh38: 7:127613804-127613804
2 PAX4 NM_001366110.1(PAX4):c.772-1G>A SNV Pathogenic 13794 rs371715169 GRCh37: 7:127251731-127251731
GRCh38: 7:127611677-127611677
3 PAX4 NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn) SNV Uncertain significance 438677 rs1554404073 GRCh37: 7:127253833-127253833
GRCh38: 7:127613779-127613779

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 9:

72
# Symbol AA change Variation ID SNP ID
1 PAX4 p.Arg172Trp VAR_054883

Expression for Maturity-Onset Diabetes of the Young, Type 9

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 9.

Pathways for Maturity-Onset Diabetes of the Young, Type 9

GO Terms for Maturity-Onset Diabetes of the Young, Type 9

Cellular components related to Maturity-Onset Diabetes of the Young, Type 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 9 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.02 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 cell differentiation GO:0030154 9.97 PDX1 PAX4 NEUROD1 HNF4A BLK
3 negative regulation of transcription, DNA-templated GO:0045892 9.89 PDX1 PAX4 KLF11 HNF4A
4 response to glucose GO:0009749 9.7 PDX1 NEUROD1 HNF4A
5 glucose metabolic process GO:0006006 9.67 PDX1 KCNJ11 GCK
6 positive regulation of insulin secretion GO:0032024 9.63 PDX1 GCK BLK
7 response to drug GO:0042493 9.63 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
8 glucose homeostasis GO:0042593 9.62 PDX1 NEUROD1 HNF4A GCK
9 positive regulation of cell differentiation GO:0045597 9.6 PAX4 NEUROD1
10 negative regulation of insulin secretion GO:0046676 9.58 KCNJ11 ABCC8
11 cellular glucose homeostasis GO:0001678 9.58 GCK ABCC8
12 insulin secretion GO:0030073 9.58 PDX1 NEUROD1 HNF1B
13 nitric oxide mediated signal transduction GO:0007263 9.56 PDX1 NEUROD1
14 inorganic cation transmembrane transport GO:0098662 9.55 KCNJ11 ABCC8
15 hepatocyte differentiation GO:0070365 9.54 HNF4A HNF1B
16 pancreas development GO:0031016 9.54 PDX1 PAX4 HNF1B
17 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.51 PDX1 NEUROD1
18 detection of glucose GO:0051594 9.43 PDX1 GCK
19 signal transduction involved in regulation of gene expression GO:0023019 9.43 NEUROD1 HNF4A GSC
20 endocrine pancreas development GO:0031018 9.26 PDX1 PAX4 NEUROD1 HNF1B
21 regulation of insulin secretion GO:0050796 9.02 NEUROD1 KCNJ11 HNF4A GCK ABCC8

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 sequence-specific DNA binding GO:0043565 9.73 PDX1 NEUROD1 HNF4A HNF1B
3 DNA-binding transcription factor activity GO:0003700 9.72 PDX1 NEUROD1 KLF11 HNF4A HNF1B
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
6 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
7 ATP-activated inward rectifier potassium channel activity GO:0015272 9.26 KCNJ11 ABCC8
8 sequence-specific double-stranded DNA binding GO:1990837 9.1 PDX1 PAX4 NEUROD1 KLF11 HNF4A GSC

Sources for Maturity-Onset Diabetes of the Young, Type 9

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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