Phenotypes associated with the disease carpal tunnel syndrome 2 (OMIM:619161):
- Hand paresthesia (HP:0033660): Tingling (often referred to as a pins and needles feeling) and numbness in the hand. Evidence: PCS. Frequency: 14/14. (PMID:32686688)
- Constrictive median neuropathy (HP:0012185): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: PCS. Frequency: 14/14. (PMID:32686688)
- Positive Phalen test (HP:0033673): The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). Evidence: PCS. Frequency: 14/14. (PMID:32686688)
- Positive carpal Tinel sign (HP:0033672): The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. Evidence: PCS. Frequency: 13/14. (PMID:32686688)
- Thenar muscle atrophy (HP:0003393): Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. Evidence: PCS. Frequency: 13/14. (PMID:32686688)
- Hand pain (HP:0046505): An unpleasant sensation characterized by physical discomfort localized to the hand. Evidence: PCS. Frequency: 13/14. (PMID:32686688)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:32686688)