sialic acid storage disease

Preferred Label : sialic acid storage disease;

MeSH definition : 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.;

MeSH synonym : sialuria; sialurias;

MeSH hyponym : infantile sialic aid storage disorder; infantile sialic acid storage disease; salla disease; French Type Sialuria; Sialic Acid Storage Disease, Infantile Form; Sialuria, Infantile Form; Infantile Form Sialuria; Infantile Form Sialurias; Sialurias, Infantile Form; Infantile Sialic Acid Storage Disorder; Infantile Sialic Acid Storage Disorder (ISSD); Sialuria, Finnish Type; Finnish Type Sialuria; Finnish Type Sialurias; Sialurias, Finnish Type; Sialic Acid Storage Disease, Finnish Type;

Details

Origin ID

D029461;

UMLS CUI

C0342853;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Free sialic acid storage disease [ORDO Disease]
- Free sialic acid storage disease [ICD-11 More detail]
- Salla disease [OMIM Phenotype]
- Salla disease [MedDRA LLT]
- Salla disease [ORDO Disease]
- Salla disease (disorder) [SNOMED CT concept]
- Sialuria [ICD-11 More detail]
- salla disease [SNOMED Notion]
- sialuria [DO Concept]
Currated CISMeF NLP mapping
- Sialic Acid Storage Disease [NCIt concept]
- Sialic acid storage disease [MedDRA LLT]
- Sialic storage disease (disorder) [SNOMED CT concept]
- Sialuria [OMIM Phenotype]
- Sialuria [ORDO Disease]
- Sialuria (disorder) [SNOMED CT concept]
- sialic acid storage disease, severe infantile type [SNOMED Notion]
- sialic acid storage disorder [Disease (Nov.)]
DO Cross reference
- sialuria [DO Concept]
Has phenotype(s) (HPO)
- Early death [HPO term]
- Fair hair [HPO term]
- High-arched palate [HPO term]
- Long, smooth philtrum [HPO term]
- Speech delay [HPO term]
Indexing information
- sialic acid transport proteins [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Record concept(s)
- infantile sialic acid storage disease [MeSH concept]
- salla disease [MeSH concept]
- sialic acid storage disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- N-Acetylneuraminic acid storage disease [MeSH Supplementary Concept]
- free sialic acid storage disease [MeSH Supplementary Concept]
- sialuria, french type [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- sialic acids [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sialic Acid Storage Disease [NCIt concept]
- Sialic acid storage disease [MedDRA LLT]
- Sialuria [OMIM Phenotype]
- Sialuria (disorder) [SNOMED CT concept]
- sialic acid storage disorder [Disease (Nov.)]
- sialuria [DO Concept]
Validated automatic mappings to BTNT
- Free sialic acid storage disease [ORDO Disease]
- Infantile sialic acid storage disease [OMIM Phenotype]
- Salla disease [ORDO Disease]
- Salla disease [MedDRA LLT]
- Salla disease [OMIM Phenotype]
- Salla disease (disorder) [SNOMED CT concept]
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
- salla disease [SNOMED Notion]

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