Infantile sialic acid storage disease

Preferred Label : Infantile sialic acid storage disease;

Symbol : ISSD;

CISMeF acronym : ISSD; NSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : N-acetylneuraminic acid storage disease; NSD; Sialuria, infantile form; Nana storage disease;

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, 604322.0002);

Laboratory abnormalities : Increased urinary free sialic acid (N-acetylneuraminic acid, 20-200x normal); Increased fibroblast free sialic acid; Enlarged lysosomal vacuoles in lymphocytes; Conjugated hyperbilirubinemia;

Prefixed ID : #269920;

Details

Origin ID

269920;

UMLS CUI

C1096902;

Automatic exact mappings (from CISMeF team)
- N-Acetylneuraminic acid storage disease [MeSH concept]
- N-Acetylneuraminic acid storage disease [MeSH Supplementary Concept]
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
- infantile sialic acid storage disease [MeSH concept]
- solute carrier family 17 member 5 [ORDO Gene]
- solute carrier family 17 member 5 [HGNC gene]
Currated CISMeF NLP mapping
- Free sialic acid storage disease, infantile form [ORDO Disease]
Genes related to phenotype
- Solute carrier family 17 (acidic sugar transporter), member 5 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormal thorax morphology [HPO term]
- Anteverted nares [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Congestive heart failure [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Death in childhood [HPO term]
- Early death [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Fair hair [HPO term]
- Fair hair [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hydrops fetalis [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypotonia [HPO term]
- J-shaped sella turcica [HPO term]
- Metaphyseal irregularity [HPO term]
- Nephrotic syndrome [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Premature birth [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Vacuolated lymphocytes [HPO term]
ORDO concept(s)
- Free sialic acid storage disease [ORDO Disease]
- Free sialic acid storage disease, infantile form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Free sialic acid storage disease, infantile form [ORDO Disease]
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
- infantile sialic acid storage disease [MeSH concept]
- sialic acid storage disease, severe infantile type [SNOMED Notion]
Validated automatic mappings to NTBT
- sialic acid storage disease [MeSH Descriptor]

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