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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04040 | Catalase | |
| P08842 | Steryl-sulfatase | |
| P15289 | Arylsulfatase A | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| Q8NBK3 | Formylglycine-generating enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002395 | Lower limb hyperreflexia |
| HP:0011220 | Prominent forehead |
| HP:0002003 | Large forehead |
| HP:0000943 | Dysostosis multiplex |
| HP:0007305 | CNS demyelination |
| HP:0012368 | Flat face |
| HP:0002119 | Ventriculomegaly |
| HP:0001251 | Ataxia |
| HP:0002922 | Increased CSF protein concentration |
| HP:0010055 | Broad hallux |
