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CA5A gene related symptoms and diseases

All the information presented here about the CA5A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CA5A gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases
Acute encephalopathy Very Common - Between 80% and 100% cases
Hyperalaninemia Very Common - Between 80% and 100% cases
Alkalosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CA5A gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Ketonuria
  • Ketoacidosis
  • Hyperammonemia
  • Tachypnea
  • Metabolic acidosis
  • Generalized hypotonia
  • Lactic acidosis
  • Lethargy

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CA5A gene

Here you will find a list of rare diseases related to the CA5A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

Alternate names

HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY Is also known as ca-va deficiency

Description

Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by van Karnebeek et al., 2014).

Most common symptoms of HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development
  • Encephalopathy
  • Acidosis


More info about HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for CA5A gene

Urea Cycle Disease Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Urea Cycle Disease Panel that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 CA5A NAGS GLUD1 ARG1 ASL ASS1 OTC

More info about this panel
Argentina.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Carbonic anhydrase VA deficiency (CA5A) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the CA5A gene.

More info about this panel
Netherlands.

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