ATP6AP1 gene related symptoms and diseases
All the information presented here about the ATP6AP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP6AP1 gene
Symptoms // Phenotype | % Cases |
---|---|
Immunodeficiency | Very Common - Between 80% and 100% cases |
Intellectual disability | Very Common - Between 80% and 100% cases |
Recurrent infections | Very Common - Between 80% and 100% cases |
Pneumonia | Uncommon - Between 30% and 50% cases |
Prolonged neonatal jaundice | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ATP6AP1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Micronodular cirrhosis
- Microcephaly
- Growth delay
- Ventricular septal defect
- Nephrotic syndrome
- Nephropathy
- Recurrent bacterial infections
- Recurrent skin infections
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP6AP1 gene
Here you will find a list of rare diseases related to the ATP6AP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY 47; IMD47
Alternate names
IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features
Description
Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).
Most common symptoms of IMMUNODEFICIENCY 47; IMD47
- Intellectual disability
- Seizures
- Hearing impairment
- Sensorineural hearing impairment
- Hepatomegaly
More info about IMMUNODEFICIENCY 47; IMD47
SOURCES: OMIM
IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY
Alternate names
IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency, lectin complement activation pathway, defect in, 3, lcapd3
Description
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.
Most common symptoms of IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY
- Intellectual disability
- Microcephaly
- Growth delay
- Ventricular septal defect
- Immunodeficiency
More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY
Search interest in ATP6AP1
Potential gene panels for ATP6AP1 gene
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panelCongenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panelATP6AP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP6AP1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GCKR ASXL2 ALDOB AUTS2 HMGB3 ANGPTL3 TCN1