MODY8
MCID: MTR082
MIFTS: 41

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
Maturity-Onset Diabetes of the Young Type 8 12 29 6 15
Mody8 56 12 52 73
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
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
Maturity-Onset Diabetes of the Young, Type 8 52
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 maturity-onset diabetes of the young type 8, 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 Developmental Biology and Aldosterone synthesis and secretion. 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 58)
# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency 29.7 PDX1 CEL
2 maturity-onset diabetes of the young 27.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
3 pancreatic agenesis 1 10.2
4 pancreas disease 10.2
5 adenocarcinoma 10.2
6 lipid metabolism disorder 10.2
7 pancreatic adenocarcinoma 10.2
8 lipomatosis 10.0
9 pancreatitis 10.0
10 rare genetic diabetes mellitus 10.0 HNF1A GCK
11 hyperinsulinemic hypoglycemia, familial, 6 10.0 GCK ABCC8
12 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
13 acute insulin response 10.0 KCNJ11 ABCC8
14 asphyxia neonatorum 9.9 KCNJ11 ABCC8
15 cardiomyopathy, dilated, 1o 9.9 KCNJ11 ABCC8
16 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9 KCNJ11 ABCC8
17 cantu syndrome 9.8 KCNJ11 ABCC8
18 type 1 diabetes mellitus 11 9.8 PDX1 NEUROD1 HNF1A
19 intestinal atresia 9.8 PDX1 GCK
20 diabetes mellitus, ketosis-prone 9.8 PAX4 KCNJ11 ABCC8
21 hyperinsulinemic hypoglycemia, familial, 1 9.7 KCNJ11 ABCC8
22 hypoglycemia 9.7 KCNJ11 GCK ABCC8
23 munchausen by proxy 9.7 KCNJ11 GCK ABCC8
24 hyperinsulinemic hypoglycemia, familial, 7 9.7 KCNJ11 GCK ABCC8
25 hepatic adenomas, familial 9.6 HNF4A HNF1A
26 pancreatic cystadenoma 9.5 PDX1 NEUROD1 GCK ABCC8
27 aminoaciduria 9.5 HNF4A HNF1A
28 diabetes mellitus, permanent neonatal 1 9.4 PDX1 KCNJ11 GCK ABCC8
29 hyperinsulinemic hypoglycemia, familial, 2 9.4 KCNJ11 HNF4A ABCC8
30 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.3 HNF4A HNF1A GCK
31 maturity-onset diabetes of the young, type 14 9.3 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
32 glucose intolerance 9.3 KCNJ11 HNF1A GCK ABCC8
33 diabetes mellitus, permanent neonatal 4 9.2 PDX1 NEUROD1 KCNJ11 GCK ABCC8
34 transient neonatal diabetes mellitus 9.2 PDX1 NEUROD1 KCNJ11 GCK ABCC8
35 hyperinsulinism 9.1 KCNJ11 HNF4A GCK ABCC8
36 insulinoma 8.9 PDX1 PAX4 NEUROD1 HNF1A GCK ABCC8
37 maturity-onset diabetes of the young, type 11 8.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
38 maturity-onset diabetes of the young, type 10 8.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
39 pancreatic agenesis 8.7 PDX1 NEUROD1 KCNJ11 HNF1B GCK ABCC8
40 gestational diabetes 8.7 KCNJ11 HNF4A HNF1A GCK ABCC8
41 diabetes mellitus, type i 8.7 PDX1 PAX4 NEUROD1 HNF4A HNF1A GCK
42 body mass index quantitative trait locus 11 8.6 KCNJ11 HNF4A HNF1A GCK ABCC8
43 hyperinsulinemic hypoglycemia 8.4 PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
44 hyperglycemia 8.2 PDX1 PAX4 KCNJ11 HNF4A HNF1A GCK
45 rare diabetes mellitus type 2 7.8 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
46 monogenic diabetes 7.8 PDX1 KCNJ11 HNF4A HNF1B HNF1A GCK
47 maturity-onset diabetes of the young, type 13 7.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
48 diabetes mellitus, noninsulin-dependent 7.5 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
49 maturity-onset diabetes of the young, type 9 7.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
50 neonatal diabetes mellitus 7.3 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 BLK CEL GCK HNF1A KCNJ11 NEUROD1

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 9.97 ABCC8 BLK GCK HNF1A HNF1B KCNJ11
2 growth/size/body region MP:0005378 9.91 CEL GCK HNF1A HNF1B HNF4A KCNJ11
3 homeostasis/metabolism MP:0005376 9.9 ABCC8 CEL GCK HNF1A HNF1B HNF4A
4 liver/biliary system MP:0005370 9.43 CEL GCK HNF1A HNF1B HNF4A PDX1
5 renal/urinary system MP:0005367 9.1 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1

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. 56 61
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_001807.6(CEL):c.703C>T (p.Arg235Ter)SNV Likely pathogenic 828119 9:135942258-135942258 9:133066871-133066871
4 CEL NM_001807.6(CEL):c.1776dup (p.Val593fs)duplication Likely pathogenic 828146 9:135946657-135946658 9:133071270-133071271
5 CEL NM_001807.5(CEL):c.2092T>G (p.Ser698Ala)SNV Uncertain significance 128691 rs587780310 9:135946981-135946981 9:133071594-133071594
6 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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
2
Show member pathways
12.53 PDX1 KCNJ11 GCK ABCC8
3 12.22 PDX1 NEUROD1 HNF4A HNF1A
4
Show member pathways
11.83 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
5 11.75 PDX1 PAX4 NEUROD1 HNF1B
6
Show member pathways
11.5 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
7 11.28 PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
8
Show member pathways
11.21 PDX1 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
9 10.31 HNF4A HNF1A

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 9.17 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.96 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 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 PDX1 NEUROD1 KLF11 HNF4A HNF1B HNF1A
2 cell differentiation GO:0030154 10.02 PDX1 PAX4 NEUROD1 HNF4A BLK
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.99 PDX1 PAX4 KLF11 HNF1B HNF1A
4 positive regulation of transcription, DNA-templated GO:0045893 9.95 PDX1 NEUROD1 HNF4A HNF1B HNF1A
5 regulation of transcription by RNA polymerase II GO:0006357 9.95 PDX1 PAX4 KLF11 HNF4A HNF1B HNF1A
6 negative regulation of transcription, DNA-templated GO:0045892 9.94 PDX1 PAX4 KLF11 HNF4A
7 response to drug GO:0042493 9.88 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
8 glucose homeostasis GO:0042593 9.77 PDX1 NEUROD1 HNF4A HNF1A GCK
9 liver development GO:0001889 9.74 PDX1 HNF1B HNF1A
10 glucose metabolic process GO:0006006 9.69 PDX1 KCNJ11 GCK
11 positive regulation of insulin secretion GO:0032024 9.67 PDX1 GCK BLK
12 regulation of Wnt signaling pathway GO:0030111 9.63 HNF1B HNF1A
13 negative regulation of insulin secretion GO:0046676 9.63 KCNJ11 ABCC8
14 cellular glucose homeostasis GO:0001678 9.62 GCK ABCC8
15 insulin secretion GO:0030073 9.62 PDX1 NEUROD1 HNF1B HNF1A
16 hindbrain development GO:0030902 9.61 NEUROD1 HNF1B
17 signal transduction involved in regulation of gene expression GO:0023019 9.61 NEUROD1 HNF4A
18 nitric oxide mediated signal transduction GO:0007263 9.6 PDX1 NEUROD1
19 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.58 HNF1B HNF1A
20 hepatocyte differentiation GO:0070365 9.58 HNF4A HNF1B
21 pancreas development GO:0031016 9.56 PDX1 PAX4 HNF1B HNF1A
22 inorganic cation transmembrane transport GO:0098662 9.54 KCNJ11 ABCC8
23 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.52 PDX1 NEUROD1
24 detection of glucose GO:0051594 9.46 PDX1 GCK
25 endocrine pancreas development GO:0031018 9.46 PDX1 PAX4 NEUROD1 HNF1A
26 regulation of pronephros size GO:0035565 9.43 HNF1B HNF1A
27 response to glucose GO:0009749 9.35 PDX1 NEUROD1 HNF4A HNF1B HNF1A
28 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 DNA binding GO:0003677 9.95 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 chromatin binding GO:0003682 9.78 PDX1 NEUROD1 HNF4A HNF1A
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 PDX1 PAX4 NEUROD1 HNF4A HNF1A
4 DNA-binding transcription factor activity GO:0003700 9.63 PDX1 NEUROD1 KLF11 HNF4A HNF1B HNF1A
5 transcription regulatory region DNA binding GO:0044212 9.62 KLF11 HNF4A HNF1B HNF1A
6 double-stranded DNA binding GO:0003690 9.61 PAX4 NEUROD1 HNF1A
7 cation-transporting ATPase activity GO:0019829 9.46 KCNJ11 ABCC8
8 sequence-specific DNA binding GO:0043565 9.43 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
9 ATP-activated inward rectifier potassium channel activity GO:0015272 9.26 KCNJ11 ABCC8
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B

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 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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