MODY14
MCID: MTR074
MIFTS: 32

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 58 76 30 6
Mody14 58 12 76
Maturity-Onset Diabetes of the Young Type 14 12 15
Diabetes of the Young, Maturity-Onset, Type 14 41
Maturity-Onset Diabetes of the Young 14 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
maturity-onset diabetes of the young, type 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111111
OMIM 58 616511
MeSH 45 D003924
SNOMED-CT via HPO 70 263681008 609561005 73211009

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

UniProtKB/Swiss-Prot : 76 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. Affiliated tissues include liver 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 27)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 30.7 ABCC8 APPL1 GCK HNF1A
2 maturity-onset diabetes of the young, type 4 10.0 GCK HNF1A
3 maturity-onset diabetes of the young, type 2 10.0 GCK HNF1A
4 maturity-onset diabetes of the young, type 3 10.0 GCK HNF1A
5 renal cysts and diabetes syndrome 9.9 GCK HNF1A
6 maturity-onset diabetes of the young, type 6 9.9 GCK HNF1A
7 maturity-onset diabetes of the young, type 7 9.9 GCK HNF1A
8 munchausen by proxy 9.9 ABCC8 GCK
9 autosomal genetic disease 9.9 GCK HNF1A
10 hyperinsulinemic hypoglycemia, familial, 3 9.9 ABCC8 GCK
11 hyperinsulinemic hypoglycemia 9.8 ABCC8 GCK
12 hypoglycemia 9.8 ABCC8 GCK
13 endocrine pancreas disease 9.8 ABCC8 GCK
14 pancreatic agenesis 9.8 ABCC8 GCK
15 diabetes mellitus, permanent neonatal 9.8 ABCC8 GCK
16 glucose metabolism disease 9.8 ABCC8 GCK
17 neonatal diabetes mellitus 9.7 ABCC8 GCK
18 diabetes mellitus, insulin-dependent 9.7 GCK HLA-DQB1 HNF1A
19 acquired metabolic disease 9.7 ABCC8 GCK
20 insulinoma 9.6 ABCC8 GCK
21 maturity-onset diabetes of the young, type 1 9.5 ABCC8 GCK HNF1A
22 maturity-onset diabetes of the young, type 13 9.5 ABCC8 GCK HNF1A
23 monogenic diabetes 9.5 ABCC8 GCK HNF1A
24 hyperglycemia 9.5 ABCC8 GCK HNF1A
25 hyperinsulinism 9.5 ABCC8 GCK
26 diabetes mellitus, noninsulin-dependent 9.4 ABCC8 GCK HNF1A
27 diabetes mellitus 9.2 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

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

33
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 33 HP:0000819
2 maturity-onset diabetes of the young 33 HP:0004904

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 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:

42
Liver, Pancreas

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

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

# Title Authors Year
1
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. ( 26073777 )
2015

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:

76
# 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

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 GCK HNF1A
2 cellular glucose homeostasis GO:0001678 8.96 ABCC8 GCK
3 regulation of insulin secretion GO:0050796 8.8 ABCC8 GCK HNF1A

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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