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Multiple Sulfatase Deficiency Disease

Go to external page http://purl.bioontology.org/ontology/MESH/D052517

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.

Term info

Label

Multiple Sulfatase Deficiency Disease

Synonyms
  • Juvenile Sulfatidoses
  • Juvenile Sulfatidosis
  • Mucosulfatidosis
  • Mukosulfatidose (DE)
  • Multiple Sulfatase Deficiencies
  • Multiple Sulfatase Deficiency
  • Multiple Sulfatasemangelkrankheit (DE)
  • Multiple Sulphatase Deficiency Disease
  • Sulfatidoses, Juvenile
  • Sulfatidosis Juvenile, Austin Type
  • Sulfatidosis, Juvenile
  • Sulfatidosis, Juvenile, Austin Type
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20070101

HN

2007; use SPHINGOLIPIDOSES 2000-2006

MDA

20060705

MMR

20120703

MN

C18.452.132.100.435.825.850.750, C18.452.648.398.641.803.925.750, C16.320.565.595.554.825.850.750, C18.452.648.189.435.825.850.750, C18.452.584.687.803.925.750, C18.452.648.595.554.825.850.750, C16.320.565.189.435.825.850.750, C10.228.140.163.100.435.825.850.750, C16.320.565.398.641.803.925.750

PM

2007; see SPHINGOLIPIDOSES 2000-2006

QB

http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D007966

TERMUI

T781927, T647405, T781926, T647437, T370373, T370374, T432973

TH

NLM (2007), ORD (2010), OMIM (2013), NLM (2000), NLM (2002), NLM (2012)

cui

C0268263, C1720864

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Term relations

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