MODY14
MCID: MTR074
MIFTS: 30

Maturity-Onset Diabetes of the Young, Type 14 (MODY14)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare 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 74 29 6
Mody14 57 12 74
Maturity-Onset Diabetes of the Young Type 14 12 15
Diabetes of the Young, Maturity-Onset, Type 14 40
Maturity-Onset Diabetes of the Young 14 74

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:

Disease Ontology 12 DOID:0111111
OMIM 57 616511
MeSH 44 D003924

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

UniProtKB/Swiss-Prot : 74 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 and maturity-onset diabetes of the young, type 4. 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), and among its related pathways/superpathways are Hepatic ABC Transporters and Regulation of beta-cell development. 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.

More information from OMIM: 616511

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

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

Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 30.2 HNF1A GCK APPL1 ABCC8
2 maturity-onset diabetes of the young, type 4 10.0 HNF1A GCK
3 maturity-onset diabetes of the young, type 2 10.0 HNF1A GCK
4 maturity-onset diabetes of the young, type 3 10.0 HNF1A GCK
5 renal cysts and diabetes syndrome 9.9 HNF1A GCK
6 maturity-onset diabetes of the young, type 6 9.9 HNF1A GCK
7 maturity-onset diabetes of the young, type 7 9.9 HNF1A GCK
8 munchausen by proxy 9.8 GCK ABCC8
9 autosomal genetic disease 9.8 HNF1A GCK
10 hyperinsulinemic hypoglycemia, familial, 3 9.8 GCK ABCC8
11 hyperinsulinemic hypoglycemia 9.8 GCK ABCC8
12 hypoglycemia 9.7 GCK ABCC8
13 endocrine pancreas disease 9.7 GCK ABCC8
14 pancreatic agenesis 9.7 GCK ABCC8
15 diabetes mellitus, permanent neonatal 9.7 GCK ABCC8
16 glucose metabolism disease 9.6 GCK ABCC8
17 neonatal diabetes mellitus 9.6 GCK ABCC8
18 diabetes mellitus, insulin-dependent 9.5 HNF1A HLA-DQB1 GCK
19 acquired metabolic disease 9.5 GCK ABCC8
20 insulinoma 9.4 GCK ABCC8
21 maturity-onset diabetes of the young, type 1 9.2 HNF1A GCK ABCC8
22 maturity-onset diabetes of the young, type 13 9.2 HNF1A GCK ABCC8
23 monogenic diabetes 9.2 HNF1A GCK ABCC8
24 hyperglycemia 9.2 HNF1A GCK ABCC8
25 hyperinsulinism 9.2 GCK ABCC8
26 diabetes mellitus, noninsulin-dependent 8.9 HNF1A GCK ABCC8
27 diabetes mellitus 8.7 HNF1A HLA-DQB1 GCK ABCC8

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 14:



Diseases related to Maturity-Onset Diabetes of the Young, Type 14

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

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

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

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 ABCC8 GCK HLA-DQB1 HNF1A
2 homeostasis/metabolism MP:0005376 9.02 ABCC8 APPL1 GCK HLA-DQB1 HNF1A

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

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

# Title Authors PMID Year
1
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. 8 71
26073777 2015
2
Maturity-Onset Diabetes of the Young Overview 71
29792621 2018

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

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 APPL1 p.Asp94Asn VAR_075857 rs796065047

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

Biological processes related to Maturity-Onset Diabetes of the Young, Type 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.16 HNF1A GCK
2 cellular glucose homeostasis GO:0001678 8.96 GCK ABCC8
3 regulation of insulin secretion GO:0050796 8.62 GCK ABCC8

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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