MODY9
MCID: MTR026
MIFTS: 33

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic 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 53 29 6 73
Mody9 57 12 53 75
Maturity-Onset Diabetes of the Young, Type Ix 57 13
Maturity-Onset Diabetes of the Young Type 9 12 15
Mody Type 9 53 75
Diabetes of the Young, Maturity-Onset, Type 9 40
Type 9 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 9 75
Diabetes Mellitus Mody Type 9 53
Mody Pax4 Related 53
Mody-9 75

Characteristics:

HPO:

32
maturity-onset diabetes of the young, type 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612225
Disease Ontology 12 DOID:0111107
MedGen 42 C2677132
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005
UMLS 73 C2677132

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

UniProtKB/Swiss-Prot : 75 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 mody9, is related to maturity-onset diabetes of the young and type 1 diabetes mellitus 15. 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 Peptide hormone metabolism and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include liver and pancreas, and related phenotypes are maturity-onset diabetes of the young and Decreased shRNA abundance (Z-score < -2)

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.

Description 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 29)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 29.4 FOXM1 GCG INS PAX4
2 type 1 diabetes mellitus 15 9.9 GCG INS
3 maturity-onset diabetes of the young, type 13 9.9 INS PAX4
4 hyperinsulinemic hypoglycemia, familial, 7 9.9 GCG INS
5 diabetes mellitus, ketosis-prone 9.9 INS PAX4
6 hypoglycemia 9.9 GCG INS
7 hirata disease 9.9 GCG INS
8 type 1 diabetes mellitus 6 9.9 INS TCF4
9 monogenic diabetes 9.9 INS PAX4
10 acute insulin response 9.9 GCG INS
11 dumping syndrome 9.9 GCG INS
12 prediabetes syndrome 9.9 GCG INS
13 pancreas disease 9.9 GCG INS
14 maturity-onset diabetes of the young, type 10 9.9 FOXM1 INS
15 overnutrition 9.9 GCG INS
16 glucose metabolism disease 9.9 GCG INS
17 morbid obesity 9.9 GCG INS
18 maturity-onset diabetes of the young, type 6 9.9 FOXM1 INS
19 acquired metabolic disease 9.8 GCG INS
20 insulinoma 9.8 GCG INS
21 glucose intolerance 9.8 GCG INS
22 diabetes mellitus 9.8 GCG INS PAX4
23 maturity-onset diabetes of the young, type 1 9.8 GCG INS PAX4
24 gastrointestinal system disease 9.8 GCG INS
25 diabetes mellitus, insulin-dependent 9.7 GCG INS PAX4
26 pancreatic cystadenoma 9.7 FOXM1 GCG INS
27 gastrointestinal system benign neoplasm 9.7 FOXM1 GCG INS
28 hyperglycemia 9.7 GCG INS
29 diabetes mellitus, noninsulin-dependent 9.7 GCG INS PAX4

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

Clinical features from OMIM:

612225

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

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

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.5 PAX4 TCF4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.5 TCF4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.5 FOXM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.5 TCF4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 FOXM1 PAX4 TCF4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.5 TCF4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.5 PAX4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 TCF4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.5 TCF4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.5 TCF4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.5 TCF4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.5 TCF4

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 8.92 FOXM1 INS PAX4 TCF4

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

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 9:

41
Liver, Pancreas

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

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

# Title Authors Year
1
Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G&amp;gt;A mutation causing maturity-onset diabetes of the young, type 9. ( 25951767 )
2015

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

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

75
# Symbol AA change Variation ID SNP ID
1 PAX4 p.Arg172Trp VAR_054883

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX4 NM_006193.2(PAX4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs121917718 GRCh37 Chromosome 7, 127253858: 127253858
2 PAX4 NM_006193.2(PAX4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs121917718 GRCh38 Chromosome 7, 127613804: 127613804
3 PAX4 NM_006193.2(PAX4): c.748-1G> A single nucleotide variant Pathogenic rs371715169 GRCh37 Chromosome 7, 127251731: 127251731
4 PAX4 NM_006193.2(PAX4): c.748-1G> A single nucleotide variant Pathogenic rs371715169 GRCh38 Chromosome 7, 127611677: 127611677
5 PAX4 NM_006193.2(PAX4): c.515G> A (p.Ser172Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 127613779: 127613779
6 PAX4 NM_006193.2(PAX4): c.515G> A (p.Ser172Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 127253833: 127253833

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 secretory granule lumen GO:0034774 8.62 GCG INS

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.26 FOXM1 INS PAX4 TCF4
2 positive regulation of cell differentiation GO:0045597 8.62 INS PAX4

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 hormone activity GO:0005179 8.62 GCG INS

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

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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