MCID: MTR075
MIFTS: 19

Maturity-Onset Diabetes of the Young, Type 13

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 13

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 13:

Name: Maturity-Onset Diabetes of the Young, Type 13 57 75 29 6
Mody13 57 12 75
Mody Type 13 12 75
Diabetes of the Young, Maturity-Onset, Type 13 40
Maturity-Onset Diabetes of the Young Type 13 12
Maturity-Onset Diabetes of the Young 13 75
Mody, Type 13 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes to mody to impaired fasting glucose or impaired glucose tolerance
treatment with sulfonylurea can be effective


HPO:

32
maturity-onset diabetes of the young, type 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616329
Disease Ontology 12 DOID:0111110
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005 11687002

Summaries for Maturity-Onset Diabetes of the Young, Type 13

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 13: 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 13, also known as mody13, is related to maturity-onset diabetes of the young. An important gene associated with Maturity-Onset Diabetes of the Young, Type 13 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11). Related phenotypes are maturity-onset diabetes of the young and maternal diabetes

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.

Description from OMIM: 616329

Related Diseases for Maturity-Onset Diabetes of the Young, Type 13

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 13

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
normal bmi

Endocrine Features:
gestational diabetes
maturity onset diabetes


Clinical features from OMIM:

616329

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 13:

32
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 32 HP:0004904
2 maternal diabetes 32 HP:0009800

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 13

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 13

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 13

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 13:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 13 29 KCNJ11

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 13

Publications for Maturity-Onset Diabetes of the Young, Type 13

Articles related to Maturity-Onset Diabetes of the Young, Type 13:

# Title Authors Year
1
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. ( 28925365 )
2017

Variations for Maturity-Onset Diabetes of the Young, Type 13

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 13:

75
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Glu227Lys VAR_073686

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
2 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh38 Chromosome 11, 17387968: 17387968
3 KCNJ11 NM_000525.3(KCNJ11): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs587783672 GRCh37 Chromosome 11, 17408960: 17408960
4 KCNJ11 NM_000525.3(KCNJ11): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs587783672 GRCh38 Chromosome 11, 17387413: 17387413
5 KCNJ11 NM_000525.3(KCNJ11): c.967dup (p.Asp323Glyfs) duplication Pathogenic GRCh38 Chromosome 11, 17387125: 17387125
6 KCNJ11 NM_000525.3(KCNJ11): c.967dup (p.Asp323Glyfs) duplication Pathogenic GRCh37 Chromosome 11, 17408672: 17408672

Expression for Maturity-Onset Diabetes of the Young, Type 13

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 13.

Pathways for Maturity-Onset Diabetes of the Young, Type 13

GO Terms for Maturity-Onset Diabetes of the Young, Type 13

Sources for Maturity-Onset Diabetes of the Young, Type 13

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
Content
Loading form....