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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001371 | Flexion contracture |
| HP:0001387 | Joint stiffness |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001488 | Bilateral ptosis |
| HP:0001537 | Umbilical hernia |
| HP:0001538 | Protuberant abdomen |
| HP:0001653 | Mitral regurgitation |
| HP:0001659 | Aortic regurgitation |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002180 | Neurodegeneration |
