Aminoacylase 1 Deficiency (ACY1D)

Alias:
Acy1d
Neurological Conditions Associated with Aminoacylase 1 Deficiency
N-Acyl-L-Amino Acid Amidohydrolase Deficiency
Encephalopathy Associated with Aminoacylase 1 Deficiency
Deficiency of the Aminoacylase-1 Enzyme
Aminoacylase-1 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aminoacylase 1 Deficiency, also known as acy1d, is related to dystonia 12 and autism, and has symptoms including seizures and muscle weakness. An important gene associated with Aminoacylase 1 Deficiency is ACY1 (Aminoacylase 1). Affiliated tissues include brain, and related phenotypes are hypotonia and encephalopathy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
3
12
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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