MCID: MTR026
MIFTS: 18

Maturity-Onset Diabetes of the Young, Type 9

Categories: Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Neuronal 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
Mody Type 9 53 75
Diabetes of the Young, Maturity-Onset, Type 9 40
Maturity-Onset Diabetes of the Young Type 9 12
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. An important gene associated with Maturity-Onset Diabetes of the Young, Type 9 is PAX4 (Paired Box 4). Related phenotype is 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 PAX4 gene on chromosome 7q32.1.

Description from OMIM: 612225

Related Diseases for 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

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 Year
1
Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>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

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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