ORPHA:314911
Severe Canavan disease
Synonyms: Infantile Canavan disease · Neonatal Canavan disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe Canavan disease | Infantile Canavan disease · Neonatal Canavan disease |
| fr | Maladie de Canavan sévère | Maladie de Canavan infantile · Maladie de Canavan néonatale |
| de | Canavan-Krankheit, schwere | Canavan-Krankheit, infantile · Canavan-Krankheit, neonatale |
| es | Enfermedad de Canavan grave | Enfermedad de Canavan infantil · Enfermedad de Canavan neonatal |
| it | Malattia di Canavan grave | Malattia di Canavan infantile · Malattia di Canavan neonatale |
| nl | Ernstige Canavan-ziekte | Infantiele Canavan-ziekte · Infantiele ziekte van Canavan · Neonatale Canavan-ziekte · Neonatale ziekte van Canavan |
| pt | Doença de Canavan grave | Doença de Canavan infantil · Doença de Canavan neonatal |
| pl | Ciężka choroba Canavana | Choroba Canavana noworodków · Dziecięca choroba Canavana |
| cs | Canavanové syndrom, těžká forma | Canavanové syndrom, infantilní · Canavanové syndrom, novorozenecký |
| uk | Важка форма хвороби Канавана | Інфантильна хвороба Канавана · Неонатальна хвороба Канавана |
| zh | 重型 Canavan病 | 婴儿 Canavan病 |
| tr | Ağır Canavan hastalığı | Yenidoğan Canavan hastalığı · İnfantil Canavan hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271900 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | attributed | validated |
| MONDO | 0017830 | E | validated | |
| UMLS | C5575558 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:141Canavan disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:756 | ENSG00000108381 | 608034 | 17p13.2 | aspartoacylase | 20301412[PMID]_21625469[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2020-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0034649 | Anti-thyroid-stimulating hormone receptor antibody positivity | |
| HP:0025053 | Elevated brain N-acetyl aspartate level by MRS | |
| HP:0004302 | Functional motor deficit | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0000256 | Macrocephaly | |
| HP:0001270 | Motor delay | |
| HP:0002421 | Poor head control | |
| HP:0025405 | Visual fixation instability | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001347 | Hyperreflexia | |
| HP:0000737 | Irritability | |
| HP:0001387 | Joint stiffness | |
| HP:0001254 | Lethargy | |
| HP:0000648 | Optic atrophy | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0002033 | Poor suck | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0002013 | Vomiting | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0001355 | Megalencephaly | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0025013 | Decerebrate rigidity | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002200 | Pseudobulbar signs | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 28613566[PMID]_20301412[PMID]_28101991[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314911
- This record as JSON: /data/d/314911.json