Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

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

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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.

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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:

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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 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

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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

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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

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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

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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	Raeder H...Njolstad PR	16369531	2006
2	The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. ⁶¹ ⁵⁷	Johansson BB...Molven A	29233499	2018
3	Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. ⁵⁷	Torsvik J...Njolstad PR	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	Hardt PD...S2453112/S2453113 Study Group	14526149	2003
5	Why are the islets of Langerhans? ⁵⁷	Henderson JR	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	Pellegrini S...Piemonti L	33417713	2021
8	Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. ⁶¹	Fjeld K...Molven A	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	Sarmadi A...Tabatabaiefar MA	33072637	2020
10	Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells. ⁶¹	Dalva M...Molven A	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	El Jellas K...Molven A	30315106	2018
12	Loss of complex O-glycosylation impairs exocrine pancreatic function and induces MODY8-like diabetes in mice. ⁶¹	Wolters-Eisfeld G...Bockhorn M	30305605	2018
13	Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase. ⁶¹	Kolar MJ...Saghatelian A	27509211	2016
14	Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China. ⁶¹	Zhang M...Qu S	25588466	2015
15	Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. ⁶¹	Torsvik J...Molven A	25160620	2014
16	Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. ⁶¹	Teo AK...Kulkarni RN	23306198	2013

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

Genes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEL	Carboxyl Ester Lipase	Protein Coding	1033.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	16369531
2	KLF11	Kruppel Like Factor 11	Protein Coding	7.54	DISEASES inferred ¹⁵
3	PAX4	Paired Box 4	Protein Coding	7.47	DISEASES inferred ¹⁵
4	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	7.2	DISEASES inferred ¹⁵
5	NEUROD1	Neuronal Differentiation 1	Protein Coding	7.2	DISEASES inferred ¹⁵
6	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	6.96	DISEASES inferred ¹⁵
7	GCK	Glucokinase	Protein Coding	6.54	DISEASES inferred ¹⁵
8	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	6.49	DISEASES inferred ¹⁵
9	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	6.48	DISEASES inferred ¹⁵
10	HNF1B	HNF1 Homeobox B	Protein Coding	6.41	DISEASES inferred ¹⁵
11	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	6.36	DISEASES inferred ¹⁵

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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

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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.

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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	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.06	PDX1 PAX4 NEUROD1 HNF4A HNF1B GCK
2	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.48	PDX1 KCNJ11 GCK ABCC8
3	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.75	PDX1 PAX4 NEUROD1 HNF1B
4	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.75	PDX1 NEUROD1 HNF4A HNF1B GCK
5	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.43	PDX1 PAX4 NEUROD1 HNF4A HNF1B GCK
6	FOXA2 and FOXA3 transcription factor networks ¹	11.2	PDX1 KCNJ11 HNF4A GCK ABCC8
7	Development_Leptin signaling via PI3K-dependent pathway ²³	11.15	KCNJ11 ABCC8
8	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.15	PDX1 NEUROD1 KCNJ11 HNF4A HNF1B GCK

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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

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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

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

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:

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:

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:

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

Genes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (1 elite genes):

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:

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

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:

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:

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

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

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