ORPHA:137754
Aminoacylase 1 deficiency
Synonyms: ACY1D · N-acyl-L-amino acid amidohydrolase deficiency · N-acyl-aliphatic-L-amino acid amidohydrolase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare inborn error of metabolism (organic aciduria) characterized by elevated urinary levels of numerous N-acetylated amino acids. A causal relationship with a specific clinical phenotype is uncertain.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aminoacylase 1 deficiency | ACY1D · N-acyl-L-amino acid amidohydrolase deficiency · N-acyl-aliphatic-L-amino acid amidohydrolase deficiency |
| fr | Déficit en aminoacylase 1 | ACY1D · Déficit en N-acyl-L-amino acide amidohydrolase · Déficit en N-acyl-aliphatic-L-amino acid amidohydrolase |
| de | Aminoacylase 1-Mangel | ACY1D · Aminoacylase 1-Defizienz · N-Acyl-L-Aminosäure Amidohydrolase-Mangel |
| es | Deficiencia de aminoacilasa 1 | ACY1D · Deficiencia de N-acil-L-aminoácido amidohidrolasa · Deficiencia de N-acil-alifático-L-aminoácido amidohidrolasa |
| it | Deficit di aminoacilasi 1 | ACY1D · Deficit di N-acil-alifatico-L-aminoacido amidoidrolasi · Deficit di N-acil-L-aminoacido-amidoidrolasi |
| nl | Deficiëntie van aminoacylase 1 | ACY1D · Deficiëntie van N-acyl-L-aminozuur-amidohydrolase · Deficiëntie van N-acyl-alifatisch-L-aminozuur-amidohydrolase |
| pt | Deficiência de aminoaciclase 1 | ACY1D · Deficiência de N-acil-L-aminoácido amidohidrolase · Deficiência de N-acil-alifático-L-aminoácido amidohidrolase |
| pl | Choroby neurologiczne związane z niedoborem aminoacylazy 1 | ACY1D · Niedobór amidohydrolazy N-acylo-L-aminokwasów |
| cs | Neurologické stavy spojené s deficitem aminoacylázy 1 | ACY1D · Deficit aminohydrolázy N-acyl-L-aminokyseliny |
| uk | Дефіцит аміноацилази 1 | ACY1D · Дефіцит амідогідролази N-ацил-L-амінокислот |
| zh | 氨基酰化酶1缺陷相关神经系统疾病 | N-酰基-L-氨基酸酰胺水解酶缺陷 |
| tr | Aminoasilaz 1 eksikliği -ilişkili nörolojik durumlar | ACY1D · N-açil-L-amino asit amidohidrolaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609924 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0012368 | E | validated | |
| MeSH | C538246 | E | validated | |
| UMLS | C1835922 | E | validated | |
| GARD | 9741 | 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 (3):
- ORPHA:308448Aminoacylase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| ACY1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:177 | ENSG00000243989 | 104620 | 3p21.2 | aminoacylase 1 | 16465618[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29653693[PMID] |
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 29653693[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.
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HPO phenotypes
13 annotations · validated 2018-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001298 | Encephalopathy | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001252 | Hypotonia | |
| Occasional (29-5%) | ||
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002104 | Apnea | |
| HP:0001263 | Global developmental delay | |
| HP:0001250 | Seizure | |
| HP:0003396 | Syringomyelia | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000445 | Wide nose | |
Annotation source: 17562838[PMID]_16465618[PMID]_24117009[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137754
- This record as JSON: /data/d/137754.json