Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Synonyms: CA-VA deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | CA-VA deficiency |
| fr | Encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA | Déficit en CA-VA |
| de | Hyperammonämische Enzephalopathie durch Carboanhydrase VA-Mangel | CA-VA-Mangel |
| es | Encefalopatía hiperamonémica por deficiencia de anhidrasa carbónica VA | Deficiencia de AC-VA |
| it | Encefalopatia con iperammoniemia da deficit di anidrasi carbonica VA | Deficit di CA-VA |
| nl | Hyperammoniëmische encefalopathie door deficiëntie van koolzuuranhydrase VA | CA-VA-deficiëntie |
| pt | Encefalopatia hiperamoniémica por défice de anidrase carbónica VA | |
| pl | Encefalopatia hiperamonowa z powodu niedoboru anhydrazy węglanowej VA | Niedobór CA-VA |
| cs | Hyperamonemická encefalopatie způsobená deficitem VA karbonyl dehydrogenázy | CA-VA deficit |
| uk | Гіперамоніємічна енцефалопатія, зумовлена дефіцитом карбоангідрази ВА | Дефіцит CA-VA |
| zh | 碳酸酐酶VA缺乏症导致的高氨性脑病 | CA-VA缺陷 |
| tr | Karbonik anhidraz VA eksikliğine bağlı hiperammonemik ensefalopati | CA-VA eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615751 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.AY | NTBT | attributed | validated |
| MONDO | 0014332 | E | validated | |
| UMLS | C4706871 | E | validated | |
| GARD | 13201 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:79197Disorder of branched-chain amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79177Gluconeogenesis disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CA5A | Disease-causing germline mutation(s) in | Assessed | HGNC:1377 | ENSG00000174990 | 114761 | 16q24.2 | carbonic anhydrase 5A | 24530203[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25834911[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25834911[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401948
- This record as JSON: /data/d/401948.json