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
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
Search interest in ACP2
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
ACP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACP2 gene.
More info about this panel United States.
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