MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: chronic diarrheal disease (MONDO:0044751)
Parent Node: congenital intestinal disease due to an enzymatic defect (MONDO:0015181)
Parent Node: disease of catalytic activity (MONDO:0044976)
Parent Node: disorder of carbohydrate absorption and transport (MONDO:0017706)
Parent Node: metabolic disease with intestinal involvement (MONDO:0015188)
..Starting node ..chronic diarrhea due to glucoamylase deficiency ()
Child Nodes:
Sister Nodes:
..4-hydroxyphenylacetic aciduria ()
..abetalipoproteinemia ()
..acrodermatitis enteropathica ()
..chronic diarrhea due to glucoamylase deficiency ()
..chronic diarrhea with villous atrophy () L: 00164;
..chronic granulomatous disease ()
..chylomicron retention disease ()
..collagenous sprue ()
..congenital disorder of glycosylation with intestinal involvement ()
..congenital lactase deficiency ()
..diarrhea-vomiting due to trehalase deficiency ()
..glucose-galactose malabsorption ()
..hereditary folate malabsorption ()
..hereditary fructose intolerance ()
..idiopathic malabsorption due to bile acid synthesis defects ()
..Imerslund-Grasbeck syndrome ()
..intestinal disaccharidase deficiency ()
..lactose intolerance (disease) ()
..mitochondrial DNA depletion syndrome ()
..mitochondrial neurogastrointestinal encephalomyopathy ()
..Pearson syndrome () L: 00169;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15169
Name:	chronic diarrhea due to glucoamylase deficiency
Definition:	This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	chronic diarrhea due to glucoamylase deficiency; maltase glucoamylase deficiency; maltase-glucoamylase deficiency
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal