Canavan disease

Preferred Label : Canavan disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aspa deficiency; Aminoacylase 2 deficiency; Asp deficiency; Aspartoacylase deficiency; Canavan-van bogaert-bertrand disease; Spongy degeneration of central nervous system; Acy2 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the aspartoacylase gene (ASPA, 271900.0001);

Laboratory abnormalities : Spongy degeneration of brain on histology; Increased N-acetyl-L-aspartic acid (NAA) in urine, CSF, and blood; Reduced aspartoacylase activity in cultured skin fibroblasts;

Prefixed ID : #271900;

Détails

Origin ID

271900;

UMLS CUI

C0206307;

Automatic exact mappings (from CISMeF team)
- aspartoacylase [HGNC gene]
- leukodystrophies [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Canavan Disease [NCIt concept]
- Canavan disease [PASCAL descriptor]
- Canavan disease [Disease (Nov.)]
- Canavan disease [DO Concept]
- Canavan disease [ICD-11 More detail]
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [ORDO Disease]
- Canavan disease [ACR pathology]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- canavan disease [MeSH Descriptor]
- canavan disease [MeSH concept]
- spongy degeneration of central nervous system [SNOMED Notion]
DO Cross reference
- Canavan disease [DO Concept]
Genes related to phenotype
- Aspartoacylase [OMIM gene]
HPO term(s)
- Aplasia/Hypoplasia involving the central nervous system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Brain atrophy [HPO term]
- CNS demyelination [HPO term]
- Deafness [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Demyelination [HPO term]
- Developmental regression [HPO term]
- Elevated urinary N-acetylaspartic acid level [HPO term]
- Generalized-onset seizure [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Increased CSF N-acetylaspartic acid concentration [HPO term]
- Increased circulating N-Acetylaspartic acid concentration [HPO term]
- Loss of very early milestones [HPO term]
- Macrocephaly [HPO term]
- Nystagmus [HPO term]
- Opisthotonus [HPO term]
- Optic atrophy [HPO term]
ORDO concept(s)
- Canavan disease [ORDO Disease]
- Mild Canavan disease [ORDO Disease]
- Severe Canavan disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Canavan Disease [NCIt concept]
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [ORDO Disease]
- Canavan disease [DO Concept]
- Canavan disease [ACR pathology]
- Canavan disease [PASCAL descriptor]
- Canavan disease [Disease (Nov.)]
- Canavan disease [ICD-11 More detail]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- canavan disease [MeSH Descriptor]
- canavan disease [MeSH concept]
- spongy degeneration of central nervous system [SNOMED Notion]
Validated automatic mappings to BTNT
- aminoacylase 2 deficiency [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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