MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

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

Disease Browser
Parent Node: metabolic disease with intestinal involvement (MONDO:0015188)
..Starting node ..collagenous sprue ()
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:	44092
Name:	collagenous sprue
Definition:	A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	collagenous enteropathy; collagenous enteropathy syndrome; collagenous sprue; collagenous Sprues; non-gluten intolerance syndrome; non-gluten sensitive enteropathy syndrome; sprue, collagenous; Sprues, collagenous
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal