DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for mucosulfatidosis

Mucosulfatidosis [DOID:0050441]

A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.

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

Linkouts:  OMIM