MODY8
MCID: MTR082
MIFTS: 38

Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (MODY8)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

Name: Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 57 53 38 72
Mody8 57 12 53 74
Maturity-Onset Diabetes of the Young, Type 8 53 29 6
Dped 57 53 74
Diabetes-Pancreatic Exocrine Dysfunction Syndrome 57 53
Maturity-Onset Diabetes of the Young, Type Viii 57 13
Diabetes and Pancreatic Exocrine Dysfunction 57 53
Maturity-Onset Diabetes of the Young Type 8 12 15
Mody Type 8 12 74
Maturity-Onset Diabetes of the Young Type 8 with Exocrine Dysfunction 12
Maturity-Onset Diabetes of the Young 8 with Exocrine Dysfunction 74
Diabetes and Pancreatic Exocrine Dysfunction Syndrome 74
Diabetes and Pancreatic Exocrine Dysfunction; Dped 57
Diabetes of the Young, Maturity-Onset, Type 8 40
Type 8 Maturity-Onset Diabetes of the Young 53
Diabetes and Pancreatic Exocrine 12
Diabetes Mellitus Mody Type 8 53
Mody-8 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of diabetes at less than 25 years of age


HPO:

32
maturity-onset diabetes of the young, type 8, with exocrine dysfunction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111105
OMIM 57 609812
MeSH 44 D003924
MedGen 42 C1853297
UMLS 72 C1853297

Summaries for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

OMIM : 57 Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by Johansson et al., 2018). For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391. (609812)

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction, also known as mody8, is related to pancreas disease and maturity-onset diabetes of the young, and has symptoms including abdominal pain and diarrhea. An important gene associated with Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction is CEL (Carboxyl Ester Lipase), and among its related pathways/superpathways are Developmental Biology and fMLP Pathway. Affiliated tissues include pancreas, and related phenotypes are abdominal pain and maturity-onset diabetes of the young

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.

UniProtKB/Swiss-Prot : 74 Maturity-onset diabetes of the young 8 with exocrine dysfunction: An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.

Related Diseases for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:



Diseases related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

32
# Description HPO Frequency HPO Source Accession
1 abdominal pain 32 HP:0002027
2 maturity-onset diabetes of the young 32 HP:0004904
3 abnormality of exocrine pancreas physiology 32 HP:0012092

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
abdominal pain
loose stools
fecal elastase deficiency

Endocrine Features:
diabetes

Abdomen Pancreas:
diabetes
reduced pancreatic volume by computerized tomography
small fibrotic pancreas at autopsy (in 1 patient)
fibrosis and mucinous metaplasia (in 1 patient)
absence of islet and acinar cells (in 1 patient)

Clinical features from OMIM:

609812

UMLS symptoms related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:


abdominal pain, diarrhea

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 CEL KLF4 MMUT POU5F1 SOX2

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 8 29 CEL

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

41
Pancreas

Publications for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Articles related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

(show all 13)
# Title Authors PMID Year
1
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. 8 71
16369531 2006
2
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. 38 8
29233499 2018
3
Maturity-Onset Diabetes of the Young Overview 71
29792621 2018
4
Pancreatitis Overview 71
24624459 2014
5
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. 8
19760265 2010
6
High prevalence of exocrine pancreatic insufficiency in diabetes mellitus. A multicenter study screening fecal elastase 1 concentrations in 1,021 diabetic patients. 8
14526149 2003
7
Why are the islets of Langerhans? 8
4183910 1969
8
The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants. 38
30315106 2018
9
Loss of complex O-glycosylation impairs exocrine pancreatic function and induces MODY8-like diabetes in mice. 38
30305605 2018
10
Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase. 38
27509211 2016
11
Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China. 38
25588466 2015
12
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. 38
25160620 2014
13
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. 38
23306198 2013

Variations for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEL CEL, 1-BP DEL, 1686T deletion Pathogenic
2 CEL CEL, 1-BP DEL, 1785C deletion Pathogenic
3 CEL NM_001807.5(CEL): c.1776del (p.Val593fs) deletion Likely pathogenic rs193922638 9:135946665-135946665 9:133071278-133071278
4 CEL NM_001807.5(CEL): c.2092T> G (p.Ser698Ala) single nucleotide variant Uncertain significance rs587780310 9:135946981-135946981 9:133071594-133071594
5 CEL NM_001807.5(CEL): c.217+34C> T single nucleotide variant Uncertain significance 9:135939975-135939975 9:133064588-133064588

Expression for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction.

Pathways for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Pathways related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 SOX2 POU5F1 NANOG KLF4 HNF4A
2
Show member pathways
12.67 SOX2 POU5F1 NANOG HNF4A
3
Show member pathways
12.24 SOX2 POU5F1 NANOG HNF4A
4
Show member pathways
12.2 SOX2 POU5F1 NANOG KLF4 HNF4A
5 12.02 SOX2 POU5F1 NANOG KLF4
6
Show member pathways
11.97 SOX2 POU5F1 NANOG
7 11.9 SOX2 POU5F1 NANOG
8 11.88 SOX2 POU5F1 NANOG KLF4
9 11.83 SOX2 POU5F1 NANOG KLF4
10 11.38 SOX2 POU5F1 NANOG
11 11.29 SOX2 POU5F1 NANOG HNF4A
12 11.03 SOX2 POU5F1 NANOG KLF4
13 10.66 SOX2 POU5F1 NANOG
14
Show member pathways
10.61 SOX2 POU5F1 NANOG KLF4
15
Show member pathways
10.33 SOX2 POU5F1 NANOG

GO Terms for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

Cellular components related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.62 SOX2 KLF4

Biological processes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 SOX2 POU5F1 KLF4 CELA1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 SOX2 POU5F1 NANOG KLF4 HNF4A CELA1
3 regulation of gene expression GO:0010468 9.58 SOX2 POU5F1 NANOG
4 stem cell population maintenance GO:0019827 9.46 NANOG KLF4
5 regulation of cell differentiation GO:0045595 9.33 NANOG KLF4 CELA1
6 transcription by RNA polymerase II GO:0006366 9.32 POU5F1 KLF4
7 somatic stem cell population maintenance GO:0035019 9.26 SOX2 POU5F1 NANOG KLF4
8 transcription, DNA-templated GO:0006351 9.07 KLF4
9 endodermal cell fate specification GO:0001714 8.8 SOX2 POU5F1 NANOG

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 SOX2 POU5F1 NANOG KLF4 HNF4A
2 DNA-binding transcription factor activity GO:0003700 9.55 SOX2 POU5F1 NANOG KLF4 HNF4A
3 sequence-specific DNA binding GO:0043565 9.35 SOX2 POU5F1 NANOG KLF4 HNF4A
4 miRNA binding GO:0035198 9.26 SOX2 POU5F1
5 transcription regulatory region DNA binding GO:0044212 8.92 SOX2 NANOG KLF4 HNF4A

Sources for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...

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
Content
Loading form....