Aminoacylase 1 deficiency

Preferred Label : Aminoacylase 1 deficiency;

Symbol : ACY1D;

CISMeF acronym : ACY1D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aminoacylase-1 gene (ACY1, 104620.0001).;

Laboratory abnormalities : Decreased aminoacylase-1 activity; Increased urinary N-acetylated amino acids;

Prefixed ID : #609924;

Détails

Origin ID

609924;

UMLS CUI

C1835922;

Currated CISMeF NLP mapping
- Aminoacylase 1 deficiency [MeSH concept]
- Deficiency of aminoacylase 1 (disorder) [SNOMED CT concept]
- Neurological conditions associated with aminoacylase 1 deficiency [ICD-11 More detail]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
- aminoacylase 1 deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Aminoacylase 1 [OMIM gene]
HPO term(s)
- Acute encephalopathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal root [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Muscle weakness [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aminoacylase 1 deficiency [MeSH concept]
- Deficiency of aminoacylase 1 (disorder) [SNOMED CT concept]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
- Neurological conditions associated with aminoacylase 1 deficiency [ICD-11 More detail]
- aminoacylase 1 deficiency [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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