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

SOURCES: OMIM ORPHANET


Potential gene panels for ATP6AP1 gene

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.

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

ATP6AP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP6AP1 gene.

More info about this panel
United States.

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