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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase |
- 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 |
