Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Pancreatic Diseases (D010182)
..Starting node ..Pancreatic Agenesis, Congenital (C564908)
Child Nodes:
Sister Nodes:
..Annular pancreas (C536376)
..Congenital Hyperinsulinism (D044903) 2
..Cystic Fibrosis (D003550) 4
..Exocrine Pancreatic Insufficiency (D010188) 3
..Johanson Blizzard syndrome (C535880)
..Pancreatic Agenesis, Congenital (C564908)
..Pancreatic Cyst (D010181) 2
..Pancreatic Fistula (D010185)
..Pancreatic lipomatosis duodenal stenosis (C535839)
..Pancreatic Neoplasms (D010190) 20
..Pancreatitis (D010195) 8
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8538

Name:

Pancreatic Agenesis, Congenital

Definition:

Alternative IDs:

OMIM:260370

ParentIDs:

MESH:D010182

TreeNumbers:

C06.689/C564908

Synonyms:

PAGEN1 |PANCREATIC AGENESIS 1 |Pancreatic Hypoplasia, Congenital

Slim Mappings:

Digestive system disease

Reference:

MedGen: C564908
MeSH: C564908
OMIM: 260370;

Genes: PDX1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000819	Diabetes mellitus
3	HP:0001738	Exocrine pancreatic insufficiency
4	HP:0001508	Failure to thrive
5	HP:0001511	Intrauterine growth retardation
6	HP:0000857	Neonatal insulin-dependent diabetes mellitus
7	HP:0002594	Pancreatic hypoplasia

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
NM_000209.3(PDX1):c.492G>T (p.Glu164Asp)	3651	PDX1	Pathogenic;risk factor	80356661	RCV000023033; RCV000020215;	N	; MedGen:C1850096,OMIM:260370	13	28498478	28498478	NM_000209.3:c.492G>T	NP_000200.1:p.Glu164Asp	NC_000013.10:g.28498478G>T	OMIM Allelic Variant:600733.0008	C1850096 260370 Pancreatic agenesis, congenital
NM_000209.3(PDX1):c.532G>A (p.Glu178Lys)	3651	PDX1	Pathogenic	80356662	RCV000020216;	N	MedGen:C1850096,OMIM:260370	13	28498518	28498518	NM_000209.3:c.532G>A	NP_000200.1:p.Glu178Lys	NC_000013.10:g.28498518G>A	OMIM Allelic Variant:600733.0009	C1850096 260370 Pancreatic agenesis, congenital
NM_000209.3(PDX1):c.533A>G (p.Glu178Gly)	3651	PDX1	Pathogenic	387906777	RCV000023034;	N	MedGen:C1850096,OMIM:260370	13	28498519	28498519	NM_000209.3:c.533A>G	NP_000200.1:p.Glu178Gly	NC_000013.10:g.28498519A>G	OMIM Allelic Variant:600733.0010	C1850096 260370 Pancreatic agenesis, congenital