Terminology Service for NFDI4Health
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Multiple Sulfatase Deficiency Disease

Go to external page http://purl.obolibrary.org/obo/NCIT_C84908

A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis. [ ]

Term info

Label

Multiple Sulfatase Deficiency Disease

Synonyms
  • Multiple Sulfatase Deficiency Disease
Preferred Name

Multiple Sulfatase Deficiency Disease

Semantic Type

Disease or Syndrome

UMLS CUI

C0268263

code

C84908