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MIRAGE
mucopolysaccharidosis type IIIB
Summary
- Synonym
-
- MPS3B
- MPSIIIB
- Mucopoly-saccharidosis type 3B
- Mucopolysaccharidosis type 3B
- N-acetyl-alpha-glucosaminidase deficiency
- NAGLU deficiency
- Sanfilippo syndrome type B
- mucopolysaccharidosis type IIIB (Sanfilippo B)
- Definition
- A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
- Super Class
- autosomal recessive disease mucopolysaccharidosis III
External Links
- Disease Ontology
- DOID:0111394
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002208 | Coarse hair |
| HP:0001640 | Cardiomegaly |
| HP:0000664 | Synophrys |
| HP:0000365 | Hearing impairment |
| HP:0001670 | Asymmetric septal hypertrophy |
| HP:0001007 | Hirsutism |
| HP:0000900 | Thickened ribs |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000943 | Dysostosis multiplex |
| HP:0001250 | Seizure |
