1. Mendelian
  2. Rare Disease Genes
  3. CNGA2

CNGA2 gene related symptoms and diseases

All the information presented here about the CNGA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CNGA2 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Tremor Very Common - Between 80% and 100% cases
Hypogonadism Very Common - Between 80% and 100% cases
Anosmia Very Common - Between 80% and 100% cases
Hyposmia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CNGA2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Partial anosmia

Rare diseases associated to CNGA2 gene

Here you will find a list of rare diseases related to the CNGA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED CONGENITAL ANOSMIA

Alternate names

ISOLATED CONGENITAL ANOSMIA Is also known as anosmia, congenital

Description

This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).

Most common symptoms of ISOLATED CONGENITAL ANOSMIA

  • Pain
  • Tremor
  • Hypogonadism
  • Anosmia
  • Hyposmia


More info about ISOLATED CONGENITAL ANOSMIA

SOURCES: OMIM MESH ORPHANET


Potential gene panels for CNGA2 gene

CNGA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CNGA2 gene.

More info about this panel
United States.

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