MCID: MTR072
MIFTS: 19

Maturity-Onset Diabetes of the Young, Type Ix

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

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

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

Name: Maturity-Onset Diabetes of the Young, Type Ix 54 13
Mody9 12 50 24 71
Maturity-Onset Diabetes of the Young, Type 9 50 29 69
Maturity-Onset Diabetes of the Young Type 9 12 24
Mody Type 9 50 71
Type 9 Maturity-Onset Diabetes of the Young 50
Maturity-Onset Diabetes of the Young 9 71
Diabetes Mellitus Mody Type 9 50
Mody Pax4 Related 50
Mody-9 71

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 612225
Disease Ontology 12 DOID:0111107
MedGen 40 C2677132
MeSH 42 D003924
SNOMED-CT via HPO 65 263681008 609561005

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

UniProtKB/Swiss-Prot : 71 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 Ix, also known as mody9, is related to maturity-onset diabetes of the young, and has symptoms including maturity-onset diabetes of the young An important gene associated with Maturity-Onset Diabetes of the Young, Type Ix is PAX4 (Paired Box 4).

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 Ix

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

Maturity-Onset Diabetes of the Young, Type Vii Maturity-Onset Diabetes of the Young 6
Maturity-Onset Diabetes of the Young, Type 14 Maturity-Onset Diabetes of the Young, Type Ix
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type Viii
Maturity-Onset Diabetes of the Young, Type 10 Maturity-Onset Diabetes of the Young, Type 13

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

id Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 9.9

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

Clinical features from OMIM:

612225

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

32
id 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 Ix

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

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

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

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 9 29
2 Maturity-Onset Diabetes of the Young Type 9 24 PAX4

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

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

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

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

71
id 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 Ix:

6
id 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 PAX4, IVS7, G-A, -1 single nucleotide variant Pathogenic

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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