Features include always present findings: Difficulty walking (gait disturbance), Pes cavus, Peripheral neuropathy, and Distal sensory impairment and others; and very common findings: Distal muscle weakness. 9 total HPO annotations.

ITPR3 encodes inositol 1,4,5-trisphosphate receptor type 3 (2,671 aa). Inositol 1,4,5-trisphosphate-gated calcium channel that, upon 1D-myo-inositol 1,4,5-trisphosphate binding, transports calcium from the endoplasmic reticulum lumen to cytoplasm, thus releasing the intracellular calcium and therefore participates in cellular calcium ion homeostasis. Highest expression in Nerve Tibial (135.8 TPM) and Thyroid (133.3 TPM).

Charcot-Marie-Tooth disease, demyelinating, type 1J is associated with mutations in the ITPR3 gene on chromosome 6.

The ITPR3 protein participates in ITPR3 transports Ca2+ from the endoplasmic reticulum to the cytosol, Sensory perception of sweet, bitter, and umami (glutamate) taste, and Sensory perception of taste pathways.

ITPR3 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.0.

Genetic testing for ITPR3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature, 1 common feature.

No clinical trials have been registered for Charcot-Marie-Tooth disease, demyelinating, type 1J.

2 publications have been identified in PubMed for Charcot-Marie-Tooth disease, demyelinating, type 1J. Kisho has analyzed 1 by research type. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Hytönen MK (2025). [PMID: 39804930](https://pubmed.ncbi.nlm.nih.gov/39804930/). *PLoS Genet*. [Basic Science / Preclinical]