Mucopolysaccharidosis type 1 (Q40077): Difference between revisions
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A mucopolissacaridose tipo 1 é uma doença rara de depósito lisossomal pertencente ao grupo das mucopolissacaridoses. Existem três variantes, que diferem amplamente em sua gravidade, com a síndrome de Hurler (57% dos casos) sendo a mais grave, a síndrome de Scheie (20% dos casos) a mais leve e a síndrome de Hurler-Scheie (23% dos casos) apresentando um fenótipo intermediário | |||||||||||||||
| description / en | description / en | ||||||||||||||
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1539226250 / rank | |||||||||||||||
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CID11:5C56.30 | |||||||||||||||
| Property / CURIE: CID11:5C56.30 / rank | |||||||||||||||
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dki-india-5C56.30 | |||||||||||||||
| Property / Canary Token: dki-india-5C56.30 / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: E76.0 / rank | |||||||||||||||
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Latest revision as of 05:44, 13 August 2026
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.
| Language | Label | Description | Also known as |
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| default for all languages | 5C56.30 |
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| English | Mucopolysaccharidosis type 1 |
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype. |
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CID11:5C56.30
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dki-india-5C56.30
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Concluído
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13 August 2026
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