1. Mendelian
  2. Genes
  3. CHCHD2

CHCHD2 gene related symptoms and diseases

All the information presented here about the CHCHD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CHCHD2 gene

Symptoms // Phenotype % Cases
Hyperreflexia Very Common - Between 80% and 100% cases
Tremor Very Common - Between 80% and 100% cases
Gait disturbance Very Common - Between 80% and 100% cases
Depressivity Very Common - Between 80% and 100% cases
Rigidity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CHCHD2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Bradykinesia
  • Resting tremor
  • Kinetic tremor

Rare diseases associated to CHCHD2 gene

Here you will find a list of rare diseases related to the CHCHD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22

Most common symptoms of PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22

  • Hyperreflexia
  • Tremor
  • Gait disturbance
  • Depressivity
  • Rigidity


More info about PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22

SOURCES: OMIM


Potential gene panels for CHCHD2 gene

Parkinson Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2

More info about this panel
United States.

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel
United States.

Parkinson Syndrome, autosomal dominant Panel Panel

Germany.

By CeGaT GmbH Parkinson Syndrome, autosomal dominant Panel that also includes the following genes: SNCA VPS35 HTRA2 LRRK2 CHCHD2 DNAJC13 EIF4G1 GBA PRKAR1B RAB29

More info about this panel
Germany.

Parkinson all Panel Panel

Germany.

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7

More info about this panel
Germany.

CHCHD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHCHD2 gene.

More info about this panel
United States.

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