MODY14
MCID: MTR074
MIFTS: 34

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 75 29 6
Mody14 57 12 75
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 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 and recurrent hypersomnia. 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 Translocation of ZAP-70 to Immunological synapse. Affiliated tissues include liver, tongue and pancreas, and 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

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 33)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 31.0 ABCC8 APPL1 GCK HNF1A
2 recurrent hypersomnia 10.1 HLA-DQB1 HLA-DQB2
3 type 1 diabetes mellitus 6 10.1 HLA-DQB1 HLA-DQB2
4 glaucomatocyclitic crisis 10.0 HLA-DQB1 HLA-DQB2
5 geographic tongue 10.0 HLA-DQB1 HLA-DQB2
6 kleine-levin hibernation syndrome 10.0 HLA-DQB1 HLA-DQB2
7 maturity-onset diabetes of the young, type 4 10.0 GCK HNF1A
8 maturity-onset diabetes of the young, type 2 10.0 GCK HNF1A
9 maturity-onset diabetes of the young, type 3 10.0 GCK HNF1A
10 renal cysts and diabetes syndrome 10.0 GCK HNF1A
11 maturity-onset diabetes of the young, type 6 10.0 GCK HNF1A
12 maturity-onset diabetes of the young, type 7 10.0 GCK HNF1A
13 munchausen by proxy 9.9 ABCC8 GCK
14 autosomal genetic disease 9.9 GCK HNF1A
15 hyperinsulinemic hypoglycemia, familial, 3 9.9 ABCC8 GCK
16 hyperinsulinemic hypoglycemia 9.9 ABCC8 GCK
17 hypoglycemia 9.9 ABCC8 GCK
18 endocrine pancreas disease 9.9 ABCC8 GCK
19 pancreatic agenesis 9.9 ABCC8 GCK
20 diabetes mellitus, permanent neonatal 9.9 ABCC8 GCK
21 glucose metabolism disease 9.9 ABCC8 GCK
22 neonatal diabetes mellitus 9.8 ABCC8 GCK
23 acquired metabolic disease 9.8 ABCC8 GCK
24 celiac disease 1 9.8 HLA-DQB1 HLA-DQB2
25 insulinoma 9.8 ABCC8 GCK
26 diabetes mellitus, insulin-dependent 9.8 GCK HLA-DQB1 HNF1A
27 hyperinsulinism 9.8 ABCC8 GCK
28 maturity-onset diabetes of the young, type 1 9.7 ABCC8 GCK HNF1A
29 maturity-onset diabetes of the young, type 13 9.7 ABCC8 GCK HNF1A
30 monogenic diabetes 9.7 ABCC8 GCK HNF1A
31 hyperglycemia 9.7 ABCC8 GCK HNF1A
32 diabetes mellitus, noninsulin-dependent 9.6 ABCC8 GCK HNF1A
33 diabetes mellitus 9.5 ABCC8 GCK HLA-DQB1 HNF1A

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

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

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 14:

41
Liver, Tongue, Pancreas

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

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

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 9.43 HLA-DQB1 HLA-DQB2
2 endocytic vesicle membrane GO:0030666 9.4 HLA-DQB1 HLA-DQB2
3 ER to Golgi transport vesicle membrane GO:0012507 9.37 HLA-DQB1 HLA-DQB2
4 transport vesicle membrane GO:0030658 9.32 HLA-DQB1 HLA-DQB2
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.26 HLA-DQB1 HLA-DQB2
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.16 HLA-DQB1 HLA-DQB2
7 endosome membrane GO:0010008 9.13 APPL1 HLA-DQB1 HLA-DQB2
8 MHC class II protein complex GO:0042613 8.62 HLA-DQB1 HLA-DQB2

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 T cell receptor signaling pathway GO:0050852 9.43 HLA-DQB1 HLA-DQB2
2 glucose homeostasis GO:0042593 9.4 GCK HNF1A
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.37 HLA-DQB1 HLA-DQB2
4 interferon-gamma-mediated signaling pathway GO:0060333 9.32 HLA-DQB1 HLA-DQB2
5 antigen processing and presentation GO:0019882 9.26 HLA-DQB1 HLA-DQB2
6 cellular glucose homeostasis GO:0001678 9.16 ABCC8 GCK
7 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.96 HLA-DQB1 HLA-DQB2
8 regulation of insulin secretion GO:0050796 8.8 ABCC8 GCK HNF1A

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

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DQB2

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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