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 57 20 37 71
Maturity-Onset Diabetes of the Young Type 8 12 29 6 15
Mody8 57 12 20 73
Dped 57 20 73
Diabetes-Pancreatic Exocrine Dysfunction Syndrome 57 20
Maturity-Onset Diabetes of the Young, Type Viii 57 13
Diabetes and Pancreatic Exocrine Dysfunction 57 20
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 57
Diabetes of the Young, Maturity-Onset, Type 8 39
Maturity-Onset Diabetes of the Young, Type 8 20
Type 8 Maturity-Onset Diabetes of the Young 20
Diabetes and Pancreatic Exocrine 12
Diabetes Mellitus Mody Type 8 20
Mody-8 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 609812
MeSH 44 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® : 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) (Updated 05-Mar-2021)

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 57)
# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency 29.9 PDX1 CEL
2 maturity-onset diabetes of the young 28.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
3 monogenic diabetes 27.8 PDX1 KCNJ11 HNF4A HNF1B GCK CEL
4 diabetes mellitus 27.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
5 lipomatosis 10.1
6 type 1 diabetes mellitus 11 10.1 PDX1 NEUROD1
7 intestinal atresia 10.0 PDX1 GCK
8 pancreatic agenesis 1 9.9
9 pancreas disease 9.9
10 adenocarcinoma 9.9
11 lipid metabolism disorder 9.9
12 pancreatic adenocarcinoma 9.9
13 pancreatitis 9.9
14 fructose-1,6-bisphosphatase deficiency 9.9 GCK ABCC8
15 acute insulin response 9.9 KCNJ11 ABCC8
16 cardiomyopathy, dilated, 1o 9.9 KCNJ11 ABCC8
17 asphyxia neonatorum 9.9 KCNJ11 ABCC8
18 coronary artery vasospasm 9.8 KCNJ11 ABCC8
19 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.8 KCNJ11 ABCC8
20 cantu syndrome 9.8 KCNJ11 ABCC8
21 hyperinsulinemic hypoglycemia, familial, 1 9.8 KCNJ11 ABCC8
22 diabetes mellitus, ketosis-prone 9.7 PAX4 KCNJ11 ABCC8
23 hypoglycemia 9.7 KCNJ11 GCK ABCC8
24 munchausen by proxy 9.7 KCNJ11 GCK ABCC8
25 factitious disorder 9.7 KCNJ11 GCK ABCC8
26 hyperinsulinemic hypoglycemia, familial, 7 9.7 KCNJ11 GCK ABCC8
27 hyperinsulinemic hypoglycemia, familial, 6 9.7 KCNJ11 GCK ABCC8
28 hyperinsulinemic hypoglycemia, familial, 2 9.6 KCNJ11 HNF4A ABCC8
29 glucose metabolism disease 9.6 KCNJ11 GCK ABCC8
30 umbilical hernia 9.6 KCNJ11 ABCC8
31 pancreatic cystadenoma 9.6 PDX1 NEUROD1 GCK ABCC8
32 glucose intolerance 9.5 NEUROD1 KCNJ11 GCK ABCC8
33 diabetes mellitus, permanent neonatal, 1 9.5 PDX1 KCNJ11 GCK ABCC8
34 type 1 diabetes mellitus 9.4 PDX1 PAX4 NEUROD1 HNF4A GCK
35 maturity-onset diabetes of the young, type 14 9.4 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
36 gestational diabetes 9.4 KCNJ11 HNF4A GCK ABCC8
37 insulinoma 9.4 PDX1 PAX4 NEUROD1 GCK ABCC8
38 hyperinsulinism 9.4 KCNJ11 HNF4A GCK ABCC8
39 transient neonatal diabetes mellitus 9.3 PDX1 NEUROD1 KCNJ11 GCK ABCC8
40 autosomal dominant polycystic kidney disease 9.2 KCNJ11 HNF1B ABCC8
41 hyperinsulinemic hypoglycemia 9.2 PDX1 KCNJ11 HNF4A GCK ABCC8
42 maturity-onset diabetes of the young, type 11 9.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
43 hyperglycemia 9.0 PDX1 PAX4 KCNJ11 HNF4A GCK ABCC8
44 neonatal diabetes 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF1B
45 maturity-onset diabetes of the young, type 13 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 permanent neonatal diabetes mellitus 8.4 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
47 pancreatic agenesis 8.4 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
48 type 2 diabetes mellitus 8.4 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
49 maturity-onset diabetes of the young, type 1 8.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
50 renal cysts and diabetes syndrome 8.0 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 Increased viability with TRAIL GR00154-A 8.32 BLK

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 endocrine/exocrine gland MP:0005379 9.81 ABCC8 BLK GCK HNF1B HNF4A KCNJ11
2 growth/size/body region MP:0005378 9.61 ABCC8 CEL GCK HNF1B HNF4A KCNJ11
3 homeostasis/metabolism MP:0005376 9.36 ABCC8 BLK CEL GCK HNF1B HNF4A

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 16)
# Title Authors PMID Year
1
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. 57 6
16369531 2006
2
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. 61 57
29233499 2018
3
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. 57
19760265 2010
4
High prevalence of exocrine pancreatic insufficiency in diabetes mellitus. A multicenter study screening fecal elastase 1 concentrations in 1,021 diabetic patients. 57
14526149 2003
5
Why are the islets of Langerhans? 57
4183910 1969
6
Corrigendum to: "Generation of ß Cells From iPSC of a MODY8 Patient With a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene". 61
33561202 2021
7
Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene. 61
33417713 2021
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
Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene. 61
33072637 2020
10
Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells. 61
31963687 2020
11
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
12
Loss of complex O-glycosylation impairs exocrine pancreatic function and induces MODY8-like diabetes in mice. 61
30305605 2018
13
Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase. 61
27509211 2016
14
Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China. 61
25588466 2015
15
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. 61
25160620 2014
16
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, 1686T Deletion 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 rs778611627 9:135942258-135942258 9:133066871-133066871
4 CEL NM_001807.6(CEL):c.1776dup (p.Val593fs) Duplication Likely pathogenic 828146 rs193922638 9:135946657-135946658 9:133071270-133071271
5 CEL NM_001807.6(CEL):c.341-2A>G SNV Uncertain significance 931259 9:135940425-135940425 9:133065038-133065038
6 CEL NM_001807.5(CEL):c.2172del (p.Val725fs) Deletion Uncertain significance 290893 rs780419796 9:135947061-135947061 9:133071674-133071674
7 CEL NM_001807.5(CEL):c.217+34C>T SNV Uncertain significance 587584 rs778382071 9:135939975-135939975 9:133064588-133064588
8 CEL NM_001807.5(CEL):c.2092T>G (p.Ser698Ala) SNV Uncertain significance 128691 rs587780310 9:135946981-135946981 9:133071594-133071594

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
13.06 PDX1 PAX4 NEUROD1 HNF4A HNF1B GCK
2
Show member pathways
12.48 PDX1 KCNJ11 GCK ABCC8
3 11.75 PDX1 PAX4 NEUROD1 HNF1B
4
Show member pathways
11.75 PDX1 NEUROD1 HNF4A HNF1B GCK
5
Show member pathways
11.43 PDX1 PAX4 NEUROD1 HNF4A HNF1B GCK
6 11.2 PDX1 KCNJ11 HNF4A GCK ABCC8
7 11.15 KCNJ11 ABCC8
8
Show member pathways
11.15 PDX1 NEUROD1 KCNJ11 HNF4A HNF1B GCK

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 chromatin GO:0000785 9.43 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
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 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.01 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 cell differentiation GO:0030154 9.97 PDX1 PAX4 NEUROD1 HNF4A BLK
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 PDX1 NEUROD1 HNF4A HNF1B
4 negative regulation of transcription, DNA-templated GO:0045892 9.89 PDX1 PAX4 KLF11 HNF4A
5 response to glucose GO:0009749 9.67 PDX1 NEUROD1 HNF4A
6 glucose metabolic process GO:0006006 9.63 PDX1 KCNJ11 GCK
7 response to drug GO:0042493 9.63 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
8 positive regulation of insulin secretion GO:0032024 9.61 PDX1 GCK BLK
9 positive regulation of cell differentiation GO:0045597 9.6 PAX4 NEUROD1
10 negative regulation of insulin secretion GO:0046676 9.58 KCNJ11 ABCC8
11 cellular glucose homeostasis GO:0001678 9.58 GCK ABCC8
12 signal transduction involved in regulation of gene expression GO:0023019 9.56 NEUROD1 HNF4A
13 glucose homeostasis GO:0042593 9.56 PDX1 NEUROD1 HNF4A GCK
14 nitric oxide mediated signal transduction GO:0007263 9.55 PDX1 NEUROD1
15 insulin secretion GO:0030073 9.54 PDX1 NEUROD1 HNF1B
16 inorganic cation transmembrane transport GO:0098662 9.52 KCNJ11 ABCC8
17 hepatocyte differentiation GO:0070365 9.51 HNF4A HNF1B
18 pancreas development GO:0031016 9.5 PDX1 PAX4 HNF1B
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.48 PDX1 NEUROD1
20 detection of glucose GO:0051594 9.4 PDX1 GCK
21 endocrine pancreas development GO:0031018 9.26 PDX1 PAX4 NEUROD1 HNF1B
22 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 9.91 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
3 DNA-binding transcription factor activity GO:0003700 9.72 PDX1 NEUROD1 KLF11 HNF4A HNF1B
4 sequence-specific DNA binding GO:0043565 9.71 PDX1 NEUROD1 HNF4A HNF1B
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
6 RNA polymerase II activating transcription factor binding GO:0001102 9.46 NEUROD1 HNF4A
7 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
8 sequence-specific double-stranded DNA binding GO:1990837 9.02 PDX1 PAX4 NEUROD1 KLF11 HNF4A
9 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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