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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 |
|---|---|---|
| Q8NBK3 | Formylglycine-generating enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000574 | Thick eyebrow |
| HP:0011304 | Broad thumb |
| HP:0001263 | Global developmental delay |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0004322 | Short stature |
| HP:0000238 | Hydrocephalus |
| HP:0001319 | Neonatal hypotonia |
| HP:0005280 | Depressed nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0008064 | Ichthyosis |
