Neurological Conditions Associated With Aminoacylase 1 Deficiency

Description

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

Clinical Features

Top most frequent phenotypes and symptoms related to Neurological Conditions Associated With Aminoacylase 1 Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia
  • Delayed speech and language development

And another 26 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Neurological Conditions Associated With Aminoacylase 1 Deficiency Is also known as n-acyl-l-amino acid amidohydrolase deficiency, acy1d.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Neurological Conditions Associated With Aminoacylase 1 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
Aminoacylase deficiency (sequence analysis of ACY1 gene).

By CGC Genetics (Portugal).

ACY1
Specificity
100 %
Genes
50 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics (Portugal).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYNGAP1, TBCE, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, PCDH19, ARHGEF9 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SPTAN1, CDKL5, STXBP1, TSC1, TSC2, WWOX, CNTNAP2, PCDH19, ARHGEF9, ARFGEF2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
50 %
Aminoacylase-1 Deficiency via ACY1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ACY1
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
50 %

We have 15 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

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