MCID: MTR074
MIFTS: 18

Maturity-Onset Diabetes of the Young, Type 14

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 14

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 14:

Name: Maturity-Onset Diabetes of the Young, Type 14 57 75 29 6
Mody14 57 12 75
Diabetes of the Young, Maturity-Onset, Type 14 40
Maturity-Onset Diabetes of the Young Type 14 12
Maturity-Onset Diabetes of the Young 14 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
diabetes mellitus diagnosed between third and fifth decades of life


HPO:

32
maturity-onset diabetes of the young, type 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616511
Disease Ontology 12 DOID:0111111
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 73211009 609561005

Summaries for Maturity-Onset Diabetes of the Young, Type 14

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 14: 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 14, also known as mody14, is related to maturity-onset diabetes of the young. An important gene associated with Maturity-Onset Diabetes of the Young, Type 14 is APPL1 (Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1). Related phenotypes are diabetes mellitus and 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 APPL1 gene on chromosome 3p14.

Description from OMIM: 616511

Related Diseases for Maturity-Onset Diabetes of the Young, Type 14

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 14

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
elevated fasting plasma glucose

Laboratory Abnormalities:
elevated hba1c glycated hemoglobin


Clinical features from OMIM:

616511

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 14:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 maturity-onset diabetes of the young 32 HP:0004904

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 14

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 14

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 14

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 14:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 14 29 APPL1

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 14

Publications for Maturity-Onset Diabetes of the Young, Type 14

Variations for Maturity-Onset Diabetes of the Young, Type 14

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 14:

75
# Symbol AA change Variation ID SNP ID
1 APPL1 p.Asp94Asn VAR_075857 rs796065047

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APPL1 NM_012096.2(APPL1): c.1655T> A (p.Leu552Ter) single nucleotide variant Pathogenic rs869320673 GRCh37 Chromosome 3, 57294044: 57294044
2 APPL1 NM_012096.2(APPL1): c.1655T> A (p.Leu552Ter) single nucleotide variant Pathogenic rs869320673 GRCh38 Chromosome 3, 57260016: 57260016
3 APPL1 NM_012096.2(APPL1): c.280G> A (p.Asp94Asn) single nucleotide variant Pathogenic rs796065047 GRCh38 Chromosome 3, 57238111: 57238111
4 APPL1 NM_012096.2(APPL1): c.280G> A (p.Asp94Asn) single nucleotide variant Pathogenic rs796065047 GRCh37 Chromosome 3, 57272139: 57272139

Expression for Maturity-Onset Diabetes of the Young, Type 14

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 14.

Pathways for Maturity-Onset Diabetes of the Young, Type 14

GO Terms for Maturity-Onset Diabetes of the Young, Type 14

Sources for Maturity-Onset Diabetes of the Young, Type 14

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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