Disease-gene associations mined from literature

Human genes for mucosulfatidosis

Mucosulfatidosis [DOID:0050441]

Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive:561 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes.:502 It is similar to mucopolysaccharidosis.

Synonyms:  mucosulfatidosis,  DOID:0050441,  Sulfatidosis, Juvenile, Austin Type,  multiple sulfatase deficiency disease,  Austin Type Sulfatidosis, Juvenile ...

Linkouts:  OMIM