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DeCS
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Descriptor English:
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Sialic Acid Storage Disease
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Descriptor Spanish:
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Enfermedad por Almacenamiento de Ácido Siálico
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Descriptor Portuguese:
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Doença do Armazenamento de Ácido Siálico
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Synonyms English:
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Finnish Type Sialuria
Finnish Type Sialurias
French Type Sialuria
Infantile Form Sialuria
Infantile Form Sialurias
Infantile Sialic Acid Storage Disease
Infantile Sialic Acid Storage Disorder
Infantile Sialic Acid Storage Disorder (ISSD)
Salla Disease
Sialic Acid Storage Disease, Finnish Type
Sialic Acid Storage Disease, Infantile Form
Sialuria
Sialuria, Finnish Type
Sialuria, Infantile Form
Sialurias
Sialurias, Finnish Type
Sialurias, Infantile Form
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Tree Number:
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C10.228.140.163.100.435.810
C16.320.565.189.435.810
C16.320.565.595.554.810
C18.452.132.100.435.810
C18.452.648.189.435.810
C18.452.648.595.554.810
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Definition English:
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Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided. |
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History Note English:
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2002
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Allowable Qualifiers English:
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Record Number:
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36010
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Unique Identifier:
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D029461
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Occurrence in VHL:
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Similar:
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DeCS
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