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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 8595875
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV17708
Name: NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
Acc ID: DOID:0050441
Term: mucosulfatidosis
Definition: An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
Definition Source(s): MESH:D052517, https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 8554872ClinVarClinVar Annotator: match by term: Multiple sulfatase deficiency

PMID:12757705, PMID:12757706, PMID:15146462, PMID:15907468, PMID:18157819, PMID:25326635, PMID:25373814, PMID:25741868, PMID:25885655, PMID:26825355, PMID:30896912
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