Features include always present findings: Difficulty walking (gait disturbance); and very common findings: Resting tremor, Slowness of movement (bradykinesia), and Muscle stiffness (rigidity). 13 total HPO annotations.

CHCHD2 encodes coiled-coil-helix-coiled-coil-helix domain containing 2 (151 aa). Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) Highest expression in Cells EBV-transformed lymphocytes (832.0 TPM) and Adrenal Gland (756.2 TPM).

Parkinson disease 22, autosomal dominant is associated with mutations in the CHCHD2 gene on chromosome 7.

The CHCHD2 protein participates in Products of MIA40:ERV1, MIA40:ERV1 (CHCHD4:GFER) oxidizes cysteine residues to cystine disulfide bonds, and Estrogen-responsive CXXC5 gene expresion pathways.

CHCHD2 is classified as a druggable target (Enzyme and Transcription Factor categories) with score 0.0.

Genetic testing for CHCHD2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Parkinson disease 22, autosomal dominant has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 3 very common features, 4 common features.

No clinical trials have been registered for Parkinson disease 22, autosomal dominant.

34 publications have been identified in PubMed for Parkinson disease 22, autosomal dominant. Research spans Basic Science / Preclinical (65%), Epidemiology / Natural History (15%), and Review / Meta-Analysis (9%).