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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Diabetes Mellitus, Type 2 (D003924)
..Starting node ..Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (C565225)
Child Nodes:
Sister Nodes:
..Diabetes Mellitus, Lipoatrophic (D003923) 1
..Diabetes Mellitus, Noninsulin-Dependent, 1 (C563359)
..Diabetes Mellitus, Noninsulin-Dependent, 2 (C563323)
..Diabetes Mellitus, Noninsulin-Dependent, 3 (C566342)
..Diabetes Mellitus, Noninsulin-Dependent, Type 4 (C564299)
..Diabetes Mellitus, Type II, Autosomal Dominant (C562773)
..Mason-Type Diabetes (C562772)
..Maturity-Onset Diabetes of the Young, Type 1 (C565101)
..Maturity-Onset Diabetes of the Young, Type 2 (C564219)
..Maturity-Onset Diabetes of the Young, Type 3 (C563933)
..Maturity-Onset Diabetes of the Young, Type 4 (C563451)
..Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (C565225)
..Maturity-Onset Diabetes Of The Young, Type 9 (C567393)
..MODY, Type 6 (C565231)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Renal cysts and diabetes syndrome (C535520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6839

Name:

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

Definition:

Alternative IDs:

OMIM:609812

ParentIDs:

MESH:D003924

TreeNumbers:

C18.452.394.750.149/C565225 |C19.246.300/C565225

Synonyms:

Diabetes and Pancreatic Exocrine Dysfunction |Diabetes-Pancreatic Exocrine Dysfunction Syndrome |DPED |MODY8

Slim Mappings:

Endocrine system disease|Metabolic disease

Reference:

MedGen: C565225
MeSH: C565225
OMIM: 609812;

Genes: CEL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004904	Maturity-onset diabetes of the young
3	HP:0002027	Abdominal pain
4	HP:0012092	Abnormality of exocrine pancreas physiology

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001807.4(CEL):c.1785delC (p.Val596Cysfs)	1056	CEL	Likely pathogenic	193922638	RCV000029467;	N	MedGen:C1853297,OMIM:609812	9	135946665	135946665	NM_001807.4:c.1785delC	NP_001798.2:p.Val596Cysfs	NC_000009.11:g.135946665delC	-	C1853297 609812 Maturity-onset diabetes of the young, type 8