ORPHA:314918
Mild Canavan disease
Synonyms: Juvenile Canavan disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mild Canavan disease | Juvenile Canavan disease |
| fr | Maladie de Canavan modérée | Maladie de Canavan juvénile |
| de | Canavan-Krankheit, milde | Canavan-Krankheit, juvenile |
| es | Enfermedad de Canavan leve | Enfermedad de Canavan juvenil |
| it | Malattia di Canavan lieve | Malattia di Canavan giovanile |
| nl | Milde Canavan-Ziekte | Juveniele Canavanziekte · Juveniele ziekte van Canavan |
| pt | Doença de Canavan ligeira | Doença de Canavan juvenil |
| pl | Łagodna choroba Canavana | Młodzieńcza choroba Canavana |
| cs | Canavanové syndrom, mírná forma | Canavanové syndrom, juvenilní |
| uk | Легка форма хвороби Канавана | Ювенільна хвороба Канавана |
| zh | 轻型 Canavan病 | 青少年 Canavan病 |
| tr | Hafif Canavan hastalığı | Jüvenil 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 | 0017831 | E | validated | |
| UMLS | C0751667 | 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 | <1 / 1 000 000 | — | Europe | Class only | 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
16 annotations · validated 2020-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0002465 | Poor speech | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0003487 | Babinski sign | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0040196 | Mild microcephaly | |
| HP:0002421 | Poor head control | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001250 | Seizure | |
| HP:0002493 | Upper motor neuron dysfunction | |
Annotation source: 20301412[PMID]_28101991[PMID]_16437572[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314918
- This record as JSON: /data/d/314918.json