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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 |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 411 | ARSB | arylsulfatase B | |
| 847 | CAT | catalase | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 2990 | GUSB | glucuronidase beta | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase |
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 |
