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 56 52 37 71
Mody8 56 12 52 73
Maturity-Onset Diabetes of the Young, Type 8 52 29 6
Dped 56 52 73
Diabetes-Pancreatic Exocrine Dysfunction Syndrome 56 52
Maturity-Onset Diabetes of the Young, Type Viii 56 13
Diabetes and Pancreatic Exocrine Dysfunction 56 52
Maturity-Onset Diabetes of the Young Type 8 12 15
Mody Type 8 12 73
Maturity-Onset Diabetes of the Young Type 8 with Exocrine Dysfunction 12
Maturity-Onset Diabetes of the Young 8 with Exocrine Dysfunction 73
Diabetes and Pancreatic Exocrine Dysfunction Syndrome 73
Diabetes and Pancreatic Exocrine Dysfunction; Dped 56
Diabetes of the Young, Maturity-Onset, Type 8 39
Type 8 Maturity-Onset Diabetes of the Young 52
Diabetes and Pancreatic Exocrine 12
Diabetes Mellitus Mody Type 8 52
Mody-8 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
maturity-onset diabetes of the young, type 8, with exocrine dysfunction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111105
OMIM 56 609812
MeSH 43 D003924
MedGen 41 C1853297
SNOMED-CT via HPO 68 21522001 263681008 609561005
UMLS 71 C1853297

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

OMIM : 56 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 exocrine pancreatic insufficiency 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 Aldosterone synthesis and secretion and Hepatic ABC Transporters. Affiliated tissues include pancreas, and related phenotypes are abdominal pain and abnormality of exocrine pancreas physiology

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 : 73 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...

Diseases related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency 29.7 PDX1 CEL
2 maturity-onset diabetes of the young 29.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
3 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1
4 pancreatic agenesis 1 10.2
5 pancreas disease 10.2
6 adenocarcinoma 10.2
7 lipid metabolism disorder 10.2
8 pancreatic adenocarcinoma 10.2
9 lipomatosis 10.0
10 pancreatitis 10.0
11 acute insulin response 10.0 KCNJ11 ABCC8
12 asphyxia neonatorum 10.0 KCNJ11 ABCC8
13 cantu syndrome 10.0 KCNJ11 ABCC8
14 cardiomyopathy, dilated, 1o 9.9 KCNJ11 ABCC8
15 hyperinsulinemic hypoglycemia, familial, 6 9.9 GCK ABCC8
16 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9 KCNJ11 ABCC8
17 maturity-onset diabetes of the young, type 14 9.9 PDX1 KLF11 GCK
18 diabetes mellitus, ketosis-prone 9.9 PAX4 KCNJ11 ABCC8
19 donohue syndrome 9.8 KCNJ11 GCK
20 intestinal atresia 9.7 PDX1 GCK
21 hypoglycemia 9.7 KCNJ11 GCK ABCC8
22 munchausen by proxy 9.7 KCNJ11 GCK ABCC8
23 hyperinsulinemic hypoglycemia, familial, 7 9.7 KCNJ11 GCK ABCC8
24 endocrine pancreas disease 9.7 KCNJ11 GCK ABCC8
25 carbohydrate metabolic disorder 9.7 KCNJ11 GCK ABCC8
26 glucose metabolism disease 9.6 KCNJ11 GCK ABCC8
27 hyperinsulinemic hypoglycemia, familial, 2 9.6 KCNJ11 HNF4A ABCC8
28 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.5 KCNJ11 HNF4A GCK
29 pancreatic cystadenoma 9.5 PDX1 NEUROD1 GCK ABCC8
30 glucose intolerance 9.5 KCNJ11 GCK ABCC8
31 insulinoma 9.3 PDX1 PAX4 NEUROD1 GCK ABCC8
32 gestational diabetes 9.2 KCNJ11 HNF4A GCK ABCC8
33 pancreatic agenesis 9.2 PDX1 NEUROD1 KCNJ11 GCK ABCC8
34 hyperinsulinism 9.2 KCNJ11 HNF4A GCK ABCC8
35 transient neonatal diabetes mellitus 9.2 PDX1 NEUROD1 KCNJ11 GCK ABCC8
36 diabetes mellitus, insulin-dependent 9.1 PDX1 PAX4 NEUROD1 HNF4A GCK
37 hyperinsulinemic hypoglycemia 9.0 PDX1 KCNJ11 HNF4A GCK ABCC8
38 maturity-onset diabetes of the young, type 11 8.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
39 rare diabetes mellitus type 2 8.8 PAX4 NEUROD1 KCNJ11 HNF4A GCK ABCC8
40 monogenic diabetes 8.8 PDX1 KCNJ11 HNF4A GCK CEL ABCC8
41 hyperglycemia 8.7 PDX1 PAX4 KCNJ11 HNF4A GCK ABCC8
42 maturity-onset diabetes of the young, type 10 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 GCK
43 diabetes mellitus, noninsulin-dependent 8.5 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A GCK
44 neonatal diabetes mellitus 8.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
45 diabetes mellitus, permanent neonatal 8.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 maturity-onset diabetes of the young, type 1 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
47 diabetes mellitus 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
48 maturity-onset diabetes of the young, type 13 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
49 maturity-onset diabetes of the young, type 4 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
50 maturity-onset diabetes of the young, type 3 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

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:

31
# Description HPO Frequency HPO Source Accession
1 abdominal pain 31 HP:0002027
2 abnormality of exocrine pancreas physiology 31 HP:0012092
3 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 ABCC8 BLK GCK KCNJ11 NEUROD1 PAX4
2 homeostasis/metabolism MP:0005376 9.28 ABCC8 CEL GCK HNF4A KCNJ11 KLF11

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:

40
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 15)
# Title Authors PMID Year
1
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. 56 6
16369531 2006
2
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. 61 56
29233499 2018
3
Maturity-Onset Diabetes of the Young Overview 6
29792621 2018
4
Pancreatitis Overview 6
24624459 2014
5
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. 56
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. 56
14526149 2003
7
Why are the islets of Langerhans? 56
4183910 1969
8
Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. 61
32007358 2020
9
Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells. 61
31963687 2020
10
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. 61
30315106 2018
11
Loss of complex O-glycosylation impairs exocrine pancreatic function and induces MODY8-like diabetes in mice. 61
30305605 2018
12
Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase. 61
27509211 2016
13
Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China. 61
25588466 2015
14
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. 61
25160620 2014
15
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEL CEL, 1-BP DEL, 1686Tdeletion Pathogenic 17600
2 CEL NM_001807.5(CEL):c.1776del (p.Val593fs)deletion Likely pathogenic 35815 rs193922638 9:135946658-135946658 9:133071271-133071271
3 CEL NM_001807.5(CEL):c.2092T>G (p.Ser698Ala)SNV Uncertain significance 128691 rs587780310 9:135946981-135946981 9:133071594-133071594
4 CEL NM_001807.5(CEL):c.217+34C>TSNV Uncertain significance 587584 rs778382071 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...

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 chromatin GO:0000790 9.35 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.92 PDX1 PAX4 NEUROD1 HNF4A BLK
2 negative regulation of transcription, DNA-templated GO:0045892 9.88 PDX1 PAX4 KLF11 HNF4A
3 lipid metabolic process GO:0006629 9.88 HNF4A CEL AIG1 ADTRP
4 response to glucose GO:0009749 9.65 PDX1 NEUROD1 HNF4A
5 positive regulation of cell differentiation GO:0045597 9.59 PAX4 NEUROD1
6 glucose metabolic process GO:0006006 9.58 PDX1 KCNJ11 GCK
7 insulin secretion GO:0030073 9.57 PDX1 NEUROD1
8 negative regulation of insulin secretion GO:0046676 9.56 KCNJ11 ABCC8
9 pancreas development GO:0031016 9.55 PDX1 PAX4
10 cellular glucose homeostasis GO:0001678 9.54 GCK ABCC8
11 positive regulation of insulin secretion GO:0032024 9.54 PDX1 GCK BLK
12 signal transduction involved in regulation of gene expression GO:0023019 9.51 NEUROD1 HNF4A
13 nitric oxide mediated signal transduction GO:0007263 9.49 PDX1 NEUROD1
14 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.46 PDX1 NEUROD1
15 glucose homeostasis GO:0042593 9.46 PDX1 NEUROD1 HNF4A GCK
16 long-chain fatty acid catabolic process GO:0042758 9.43 AIG1 ADTRP
17 endocrine pancreas development GO:0031018 9.43 PDX1 PAX4 NEUROD1
18 response to drug GO:0042493 9.35 PDX1 PAX4 NEUROD1 KCNJ11 ABCC8
19 detection of glucose GO:0051594 9.32 PDX1 GCK
20 regulation of insulin secretion GO:0050796 9.02 NEUROD1 KCNJ11 HNF4A GCK ABCC8

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 sequence-specific DNA binding GO:0043565 9.26 PDX1 PAX4 NEUROD1 HNF4A
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 PDX1 PAX4 NEUROD1 KLF11 HNF4A

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

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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