mucosulfatidosis

Summary
Synonym
  • Sulfatidosis, Juvenile, Austin Type
  • multiple sulfatase deficiency disease
Definition
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.
Super Class
autosomal recessive disease sphingolipidosis
External Links
Disease Ontology
DOID:0050441
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
412 STS steroid sulfatase
847 CAT catalase
6448 SGSH N-sulfoglucosamine sulfohydrolase
285362 SUMF1 sulfatase modifying factor 1
347527 ARSH arylsulfatase family member H
The Human Phenotype Ontology
Displaying entries 21 - 30 of 50 in total
HPO ID HPO Term
HP:0000648 Optic atrophy
HP:0000256 Macrocephaly
HP:0002240 Hepatomegaly
HP:0010059 Broad hallux phalanx
HP:0001744 Splenomegaly
HP:0000518 Cataract
HP:0007703 Abnormality of retinal pigmentation
HP:0000319 Smooth philtrum
HP:0003134 Abnormality of peripheral nerve conduction
HP:0001250 Seizure
Displaying 1 entry
Gene ID Gene Symbol Description
285362 SUMF1 sulfatase modifying factor 1

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Last updated: August 19, 2024