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: inherited lipid metabolism disorder (MONDO:0002525)
Parent Node: lysosomal storage disease (MONDO:0002561)
..Starting node ..lysosomal lipid storage disorder ()
Child Nodes:
........cerebral lipidosis with dementia ()
........lysosomal acid lipase deficiency ()
........neuronal ceroid lipofuscinosis ()
........neutral lipid storage disease ()
........sphingolipidosis ()
........triglyceride storage disease ()
........xanthomatosis (disease) ()
Sister Nodes:
..disorder of sialic acid metabolism ()
..glycoprotein storage disease ()
..glycoproteinosis ()
..hereditary spastic paraplegia 48 ()
..inborn disorder of lysosomal amino acid transport ()
..lysosomal acid phosphatase deficiency ()
..lysosomal disease with epilepsy ()
..lysosomal disease with hypertrophic cardiomyopathy ()
..lysosomal disease with restrictive cardiomyopathy ()
..lysosomal glycogen storage disease ()
..lysosomal lipid storage disorder ()
..lysosomal storage disease with skeletal involvement ()
..mucopolysaccharidosis ()
..pycnodysostosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19245
Name:	lysosomal lipid storage disorder
Definition:	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of lipid storage; inborn lipid storage disorder; lipid storage disease; lipidoses; lipidosis; lipoid storage diseas; lipoid storage disease; lipoid storage disorder; lipoidoses; lipoidosis; rare inborn error of lipid storage; rare inborn error of lipid storage
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal