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mucopolysaccharidosis Ih
Summary
- Synonym
-
- Dysostosis multiplex syndrome
- Hurler disease MPS type 1H
- Hurler-Pfaundler syndrome
- L-iduronidase deficiency, Hurler type
- MPS1-H
- Mucopolysaccharidosis type I severe form
- dysostosis multiplex
- gargoylism
- Definition
- A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
- Super Class
- autosomal recessive disease mucopolysaccharidosis I
External Links
- Disease Ontology
- DOID:0111390
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5476 | CTSA | cathepsin A | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase | |
| 285362 | SUMF1 | sulfatase modifying factor 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00754 | Lysosomal alpha-mannosidase | |
| P04040 | Catalase | |
| P04066 | Tissue alpha-L-fucosidase | |
| P08236 | Beta-glucuronidase | |
| P10619 | Lysosomal protective protein | |
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P15848 | Arylsulfatase B | |
| P16278 | Beta-galactosidase | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000158 | Macroglossia |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000238 | Hydrocephalus |
| HP:0000268 | Dolichocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000293 | Full cheeks |
| HP:0000365 | Hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
