Salla disease - CISMeF

Preferred Label : Salla disease;

Symbol : SD;

CISMeF acronym : SD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sialuria, finnish type;

Description : Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, 604322.0001);

Laboratory abnormalities : Increased urinary free sialic acid excretion (N-acetylneuraminic acid, 5-20x normal) Enlarged lysosomal vacuoles in lymphocytes and fibroblasts;

Prefixed ID : #604369;

Details

Origin ID

604369;

UMLS CUI

C1096903;

Automatic exact mappings (from CISMeF team)
- Dravet syndrome [ORDO Disease]
- Free sialic acid storage disease [ICD-11 More detail]
- Global Stable Disease [NCIt concept]
- Global Stable Disease in Blood [NCIt concept]
- Global Stable Disease in Lymph Nodes [NCIt concept]
- Global Stable Disease in Skin [NCIt concept]
- Global Stable Disease in Viscera [NCIt concept]
- ITMIG MRECIST Stable Disease [NCIt concept]
- RECIL SD [NCIt concept]
- SD, Rat Strain [NCIt concept]
- Shwachman-Diamond Syndrome [NCIt concept]
- Sialic Acid Storage Disease [NCIt concept]
- Stable Disease [NCIt concept]
- Syndromic diarrhea [ORDO Disease]
- has standard deviation [SNOMED Notion]
- sialic acid storage disease [MeSH Descriptor]
- solute carrier family 17 member 5 [ORDO Gene]
- solute carrier family 17 member 5 [HGNC gene]
- supply and distribution [MeSH Qualifier]
- symbol withdrawn SD [HGNC gene]
- symbol withdrawn SIASD [HGNC gene]
CISMeF manual mappings
- Free sialic acid storage disease [ORDO Disease]
Currated CISMeF NLP mapping
- Salla disease [ORDO Disease]
- Salla disease [MedDRA LLT]
- Salla disease (disorder) [SNOMED CT concept]
- salla disease [SNOMED Notion]
- salla disease [MeSH concept]
DO Cross reference
- sialuria [DO Concept]
False automatic mappings
- RANGAP1 wt Allele [NCIt concept]
- Sodium Lauryl Sulfate [NCIt concept]
- South Dakota [NCIt concept]
- Standard Deviation [NCIt concept]
- Sudan [NCIt concept]
Genes related to phenotype
- Solute carrier family 17 (acidic sugar transporter), member 5 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Exotropia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
- Thickened calvaria [HPO term]
- Vacuolated lymphocytes [HPO term]
ORDO concept(s)
- Free sialic acid storage disease [ORDO Disease]
- Salla disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Salla disease [MedDRA LLT]
- Salla disease [ORDO Disease]
- Salla disease (disorder) [SNOMED CT concept]
- salla disease [SNOMED Notion]
- salla disease [MeSH concept]
Validated automatic mappings to NTBT
- sialic acid storage disease [MeSH Descriptor]
- sialic acid storage disorder [Disease (Nov.)]

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