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 56 73 29 6
Mody14 56 12 73
Maturity-Onset Diabetes of the Young Type 14 12 15
Diabetes of the Young, Maturity-Onset, Type 14 39
Maturity-Onset Diabetes of the Young 14 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
maturity-onset diabetes of the young, type 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111111
OMIM 56 616511
MeSH 43 D003924
SNOMED-CT via HPO 68 263681008 609561005 73211009

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

UniProtKB/Swiss-Prot : 73 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 rare diabetes mellitus type 2. 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 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 28)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 30.0 PDX1 KLF11 HNF1A GCK APPL1
2 rare diabetes mellitus type 2 9.9 HNF1A GCK
3 gestational diabetes 9.7 HNF1A GCK
4 maturity-onset diabetes of the young, type 11 9.7 PDX1 KLF11
5 intestinal atresia 9.6 PDX1 GCK
6 pancreatic cystadenoma 9.6 PDX1 GCK
7 pancreatic agenesis 9.6 PDX1 GCK
8 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.5 HNF1A GCK
9 transient neonatal diabetes mellitus 9.5 PDX1 GCK
10 monogenic diabetes 9.4 PDX1 HNF1A GCK
11 hyperinsulinemic hypoglycemia 9.4 PDX1 HNF1A GCK
12 maturity-onset diabetes of the young, type 13 9.3 PDX1 KLF11 GCK
13 maturity-onset diabetes of the young, type 10 9.3 PDX1 KLF11 GCK
14 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.3 PDX1 KLF11 GCK
15 maturity-onset diabetes of the young, type 7 9.3 PDX1 KLF11 GCK
16 insulinoma 9.3 PDX1 HNF1A GCK
17 maturity-onset diabetes of the young, type 9 9.3 PDX1 KLF11 GCK
18 diabetes mellitus, permanent neonatal 9.3 PDX1 KLF11 GCK
19 hyperglycemia 9.3 PDX1 HNF1A GCK
20 neonatal diabetes mellitus 9.3 PDX1 KLF11 GCK
21 diabetes mellitus, insulin-dependent 9.2 PDX1 HNF1A GCK
22 maturity-onset diabetes of the young, type 1 9.0 PDX1 KLF11 HNF1A GCK
23 maturity-onset diabetes of the young, type 6 9.0 PDX1 KLF11 HNF1A GCK
24 maturity-onset diabetes of the young, type 4 9.0 PDX1 KLF11 HNF1A GCK
25 maturity-onset diabetes of the young, type 2 9.0 PDX1 KLF11 HNF1A GCK
26 renal cysts and diabetes syndrome 9.0 PDX1 KLF11 HNF1A GCK
27 maturity-onset diabetes of the young, type 3 9.0 PDX1 KLF11 HNF1A GCK
28 diabetes mellitus 8.9 PDX1 KLF11 HNF1A GCK

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:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
diabetes mellitus
elevated fasting plasma glucose

Laboratory Abnormalities:
elevated hba1c glycated hemoglobin

Clinical features from OMIM:

616511

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:

40
Liver

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. 56 6
26073777 2015
2
Maturity-Onset Diabetes of the Young Overview 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APPL1 NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter)SNV Pathogenic 208074 rs869320673 3:57294044-57294044 3:57260016-57260016
2 APPL1 NM_012096.3(APPL1):c.280G>A (p.Asp94Asn)SNV Pathogenic 208075 rs796065047 3:57272139-57272139 3:57238111-57238111

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

73
# 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 transcription by RNA polymerase II GO:0006366 9.5 PDX1 KLF11 HNF1A
2 liver development GO:0001889 9.48 PDX1 HNF1A
3 response to glucose GO:0009749 9.46 PDX1 HNF1A
4 glucose metabolic process GO:0006006 9.43 PDX1 GCK
5 positive regulation of insulin secretion GO:0032024 9.4 PDX1 GCK
6 insulin secretion GO:0030073 9.37 PDX1 HNF1A
7 pancreas development GO:0031016 9.26 PDX1 HNF1A
8 endocrine pancreas development GO:0031018 9.16 PDX1 HNF1A
9 glucose homeostasis GO:0042593 9.13 PDX1 HNF1A GCK
10 detection of glucose GO:0051594 8.62 PDX1 GCK

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 protein heterodimerization activity GO:0046982 8.8 PDX1 MPP7 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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