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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: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 |
