MCID: MTR082
MIFTS: 23

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

Categories: Genetic diseases, Rare diseases, Endocrine 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 73
Mody8 57 12 53 75
Diabetes and Pancreatic Exocrine Dysfunction 57 53 75
Maturity-Onset Diabetes of the Young, Type 8 53 29 6
Dped 57 53 75
Diabetes-Pancreatic Exocrine Dysfunction Syndrome 57 53
Maturity-Onset Diabetes of the Young, Type Viii 57 13
Mody Type 8 12 75
Maturity-Onset Diabetes of the Young Type 8 with Exocrine Dysfunction 12
Maturity-Onset Diabetes of the Young 8 with Exocrine Dysfunction 75
Diabetes and Pancreatic Exocrine Dysfunction; Dped 57
Diabetes of the Young, Maturity-Onset, Type 8 40
Maturity-Onset Diabetes of the Young Type 8 12
Type 8 Maturity-Onset Diabetes of the Young 53
Diabetes and Pancreatic Exocrine 12
Diabetes Mellitus Mody Type 8 53
Mody-8 75

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:

OMIM 57 609812
Disease Ontology 12 DOID:0111105
MedGen 42 C1853297
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 21522001 609561005
UMLS 73 C1853297

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

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 8 with exocrine dysfunction: 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 8, with Exocrine Dysfunction, also known as mody8, is related to maturity-onset diabetes of the young and pancreatitis, 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). 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.

Description from OMIM: 609812

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:

# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 11.0
2 pancreatitis 10.2

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

Symptoms via clinical synopsis from OMIM:

57
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)

Endocrine Features:
diabetes

Abdomen Gastrointestinal:
abdominal pain
loose stools
fecal elastase deficiency


Clinical features from OMIM:

609812

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

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


abdominal pain, diarrhea

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:

# Title Authors Year
1
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. ( 25160620 )
2014
2
Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young). ( 23565203 )
2013
3
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease. ( 21784842 )
2011
4
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. ( 16369531 )
2006

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 Assembly Location
1 CEL CEL, 1-BP DEL, 1785C deletion Pathogenic
2 CEL CEL, 1-BP DEL, 1686T deletion Pathogenic
3 CEL NM_001807.4(CEL): c.1785delC (p.Val596Cysfs) deletion Likely pathogenic rs193922638 GRCh37 Chromosome 9, 135946665: 135946665
4 CEL NM_001807.4(CEL): c.1785delC (p.Val596Cysfs) deletion Likely pathogenic rs193922638 GRCh38 Chromosome 9, 133071278: 133071278
5 CEL NM_001807.4(CEL): c.2181delT (p.Val728Cysfs) deletion Likely pathogenic rs780419796 GRCh37 Chromosome 9, 135947061: 135947061
6 CEL NM_001807.4(CEL): c.2181delT (p.Val728Cysfs) deletion Likely pathogenic rs780419796 GRCh38 Chromosome 9, 133071674: 133071674

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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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