MCID: MTR024
MIFTS: 18

Maturity-Onset Diabetes of the Young, Type 7

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 7

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 7:

Name: Maturity-Onset Diabetes of the Young, Type 7 57 53 29 6 73
Mody7 57 12 53 75
Maturity-Onset Diabetes of the Young, Type Vii 57 13
Mody Type 7 53 75
Diabetes of the Young, Maturity-Onset, Type 7 40
Maturity-Onset Diabetes of the Young Type 7 12
Type 7 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 7 75
Diabetes Mellitus Mody Type 7 53
Mody Klf11 Related 53
Mody-7 75

Characteristics:

HPO:

32
maturity-onset diabetes of the young, type 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610508
Disease Ontology 12 DOID:0111106
MedGen 42 C1864839
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005 44054006
UMLS 73 C1864839

Summaries for Maturity-Onset Diabetes of the Young, Type 7

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 7: 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 7, also known as mody7, is related to maturity-onset diabetes of the young and pancreatitis. An important gene associated with Maturity-Onset Diabetes of the Young, Type 7 is KLF11 (Kruppel Like Factor 11). Related phenotypes are maturity-onset diabetes of the young and type ii diabetes mellitus

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the KLF11 gene on chromosome 2p25.

Description from OMIM: 610508

Related Diseases for Maturity-Onset Diabetes of the Young, Type 7

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 7

Clinical features from OMIM:

610508

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 7:

32
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 32 HP:0004904
2 type ii diabetes mellitus 32 HP:0005978

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 7

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 7

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 7

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 7:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 7 29 KLF11

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 7

Publications for Maturity-Onset Diabetes of the Young, Type 7

Variations for Maturity-Onset Diabetes of the Young, Type 7

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 7:

75
# Symbol AA change Variation ID SNP ID
1 KLF11 p.Thr220Met VAR_031523 rs34336420
2 KLF11 p.Ala347Ser VAR_031524 rs121912645

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLF11 NM_003597.4(KLF11): c.1039G> T (p.Ala347Ser) single nucleotide variant Pathogenic rs121912645 GRCh37 Chromosome 2, 10188503: 10188503
2 KLF11 NM_003597.4(KLF11): c.1039G> T (p.Ala347Ser) single nucleotide variant Pathogenic rs121912645 GRCh38 Chromosome 2, 10048376: 10048376

Expression for Maturity-Onset Diabetes of the Young, Type 7

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 7.

Pathways for Maturity-Onset Diabetes of the Young, Type 7

GO Terms for Maturity-Onset Diabetes of the Young, Type 7

Sources for Maturity-Onset Diabetes of the Young, Type 7

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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