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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Lipidoses (D008064)
Parent Node: Lysosomal Storage Diseases (D016464)
..Starting node ..Cholesterol Ester Storage Disease (D015217)
Child Nodes:
........Wolman Disease (D015223) 2
Sister Nodes:
..Aspartylglucosaminuria (D054880) 1
..Cholesterol Ester Storage Disease (D015217) 3
..Cystinosis (D003554) 4
..Glutamyl Ribose-5-Phosphate Storage Disease (C564422)
..Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency (C538648)
..Lysosomal Storage Diseases, Nervous System (D020140) 70
..Mannosidase Deficiency Diseases (D044904) 6
..Mucopolysaccharidoses (D009083) 10
..Neuraminidase deficiency with beta-galactosidase deficiency (C536411)
..Pycnodysostosis (D058631)
..Schindler Disease, Type I (C536631)
..Vacuolar myopathy (C536522)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2306
Name:	Cholesterol Ester Storage Disease
Definition:	An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Alternative IDs:	DO:DOID:14502
ParentIDs:	MESH:D008064\|MESH:D016464
TreeNumbers:	C16.320.565.398.641.201 \|C16.320.565.595.201 \|C18.452.584.687.201 \|C18.452.648.398.641.201 \|C18.452.648.595.201
Synonyms:	Cholesteryl Ester Storage Disease
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: D015217 MeSH: D015217 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal