MCID: MTR039
MIFTS: 21

Maturity-Onset Diabetes of the Young, Type 11

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 11

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 11:

Name: Maturity-Onset Diabetes of the Young, Type 11 57 29 13 6 73
Mody11 57 12 75
Diabetes of the Young, Maturity-Onset, Type 11 40
Maturity-Onset Diabetes of the Young Type 11 12
Maturity-Onset Diabetes of the Young 11 75
Mody Type 11 75
Mody-11 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients require insulin for treatment


HPO:

32
maturity-onset diabetes of the young, type 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613375
Disease Ontology 12 DOID:0111109
MedGen 42 C3150618
MeSH 44 D003924
UMLS 73 C3150618

Summaries for Maturity-Onset Diabetes of the Young, Type 11

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 11: 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 11, also known as mody11, is related to maturity-onset diabetes of the young and keratolytic winter erythema. An important gene associated with Maturity-Onset Diabetes of the Young, Type 11 is BLK (BLK Proto-Oncogene, Src Family Tyrosine Kinase). Related phenotypes are diabetes mellitus and obesity

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the BLK gene on chromosome 8p23-p22.

Description from OMIM: 613375

Related Diseases for Maturity-Onset Diabetes of the Young, Type 11

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 11

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
overweight
obesity

Endocrine Features:
diabetes mellitus


Clinical features from OMIM:

613375

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 11:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 obesity 32 HP:0001513
3 maturity-onset diabetes of the young 32 HP:0004904
4 overweight 32 HP:0025502

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 11

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 11

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 11

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 11:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 11 29 BLK

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 11

Publications for Maturity-Onset Diabetes of the Young, Type 11

Variations for Maturity-Onset Diabetes of the Young, Type 11

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BLK NC_000008.11: g.11573132C> T single nucleotide variant Pathogenic rs61199332 NCBI36 Chromosome 8, 11468050: 11468050
2 BLK NC_000008.11: g.11573132C> T single nucleotide variant Pathogenic rs61199332 GRCh37 Chromosome 8, 11430641: 11430641
3 BLK NC_000008.11: g.11573132C> T single nucleotide variant Pathogenic rs61199332 GRCh38 Chromosome 8, 11573132: 11573132
4 BLK NC_000008.11: g.11474238G> A single nucleotide variant Pathogenic rs886037620 GRCh37 Chromosome 8, 11331747: 11331747
5 BLK NC_000008.11: g.11474238G> A single nucleotide variant Pathogenic rs886037620 NCBI36 Chromosome 8, 11369157: 11369157
6 BLK NC_000008.11: g.11474238G> A single nucleotide variant Pathogenic rs886037620 GRCh38 Chromosome 8, 11474238: 11474238
7 BLK NM_001715.2(BLK): c.*505G> T single nucleotide variant Pathogenic rs886037621 NCBI36 Chromosome 8, 11459531: 11459531
8 BLK NM_001715.2(BLK): c.*505G> T single nucleotide variant Pathogenic rs886037621 GRCh37 Chromosome 8, 11422122: 11422122
9 BLK NM_001715.2(BLK): c.*505G> T single nucleotide variant Pathogenic rs886037621 GRCh38 Chromosome 8, 11564613: 11564613

Expression for Maturity-Onset Diabetes of the Young, Type 11

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 11.

Pathways for Maturity-Onset Diabetes of the Young, Type 11

GO Terms for Maturity-Onset Diabetes of the Young, Type 11

Sources for Maturity-Onset Diabetes of the Young, Type 11

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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