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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
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
| 138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P35475 | Alpha-L-iduronidase | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0000900 | Thickened ribs |
| HP:0003309 | Ovoid thoracolumbar vertebrae |
| HP:0000365 | Hearing impairment |
| HP:0002240 | Hepatomegaly |
| HP:0001250 | Seizure |
| HP:0000250 | Dense calvaria |
| HP:0001640 | Cardiomegaly |
| HP:0002360 | Sleep abnormality |
| HP:0000718 | Aggressive behavior |
