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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0002007 | Frontal bossing |
| HP:0002028 | Chronic diarrhea |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002230 | Generalized hirsutism |
| HP:0002240 | Hepatomegaly |
| HP:0002313 | Spastic paraparesis |
| HP:0002360 | Sleep abnormality |
| HP:0002650 | Scoliosis |
| HP:0002652 | Skeletal dysplasia |
