ORPHA:141
Canavan disease
Synonyms: ACY2 deficiency · Aminoacylase 2 deficiency · Aspartoacylase deficiency · Spongy degeneration of the brain
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Canavan disease | ACY2 deficiency · Aminoacylase 2 deficiency · Aspartoacylase deficiency · Spongy degeneration of the brain |
| fr | Maladie de Canavan | Déficit en ACY2 · Déficit en aminoacylase 2 · Déficit en aspartoacylase · Dégénérescence spongieuse du cerveau |
| de | Canavan-Krankheit | ACY2-Mangel · Aminoacylase 2-Mangel · Aspartoacylase-Mangel · Canavan-Syndrom · ZNS-Degeneration, spongiforme |
| es | Enfermedad de Canavan | Deficiencia de ACY2 · Deficiencia de aminoacilasa 2 · Deficiencia de aspartoacilasa · Degeneración esponjosa del cerebro |
| it | Malattia di Canavan | Deficit di ACY2 · Deficit di aminoacilasi 2 · Deficit di aspartoacilasi · Degenerazione spongiosa del cervello |
| nl | Ziekte van Canavan | ACY2-deficiëntie · Aminoacylase 2-deficiëntie · Aspartoacylasedeficiëntie · Sponsachtige degeneratie van de hersenen |
| pt | Doença de Canavan | Deficiência de aspartoacilase · Degenerescência espongiforme do sistema nervoso central |
| pl | Choroba Canavan | Niedobór ACY2 · Niedobór aminoacylazy-2 · Niedobór aspartoacylazy · Zwyrodnienie gąbczaste mózgu |
| cs | Nemoc Canavanové | Deficit ACY2 · Deficit aminoacylázy 2 · Deficit aspartoacylázy · Spongiformní leukodystrofie · Spongiozní degenerace mozku |
| uk | Хвороба Канавана | Дефіцит ACY2 · Дефіцит аміноацилази 2 · Дефіцит аспартатацилази · Губчаста дегенерація головного мозку |
| zh | 卡纳万病 | 脑海绵状变性 |
| tr | Canavan hastalığı | ACY2 eksikliği · Aminoaçilaz 2 eksikliği · Aspartoaçilaz eksikliği · Beynin süngerimsi dejenerasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271900 | E | validated | |
| ICD-10 | E75.2 | NTBT | index | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0010079 | E | validated | |
| MeSH | D017825 | E | validated | |
| UMLS | C0206307 | E | validated | |
| GARD | 5984 | E | validated | |
| MedDRA | 10067608 | 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 (6):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:308448Aminoacylase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ASPA | ORPHA:314911Severe Canavan disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:756 | ENSG00000108381 | 608034 | 17p13.2 | aspartoacylase | 20301412[PMID]_21625469[PMID] |
| ASPA | ORPHA:314918Mild Canavan disease | 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
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 7 / 100 000 | Specific population | Value and class | Validated | 20301412[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002353 | EEG abnormality | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0000648 | Optic atrophy | |
| HP:0004372 | Reduced consciousness | |
| Frequent (79-30%) | ||
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0000618 | Blindness | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002376 | Developmental regression | |
| HP:0001371 | Flexion contracture | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141
- This record as JSON: /data/d/141.json