ACP2 gene related symptoms and diseases

All the information presented here about the ACP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACP2 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases
Vomiting Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases
Lethargy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal bleeding
  • Opisthotonus
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Rare diseases associated to ACP2 gene

Here you will find a list of rare diseases related to the ACP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LYSOSOMAL ACID PHOSPHATASE DEFICIENCY


Most common symptoms of LYSOSOMAL ACID PHOSPHATASE DEFICIENCY

  • Generalized hypotonia
  • Muscular hypotonia
  • Vomiting
  • Recurrent infections
  • Lethargy


More info about LYSOSOMAL ACID PHOSPHATASE DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for ACP2 gene

Lysosomal acid phosphatase deficiency (sequence analysis of ACP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACP2 gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal acid phosphatase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACP2 gene.

More info about this panel

ACP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACP2 gene.

More info about this panel


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