Phenotypes associated with the disease susceptibility to mononeuropathy of the median nerve, mild (OMIM:613353):
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: PCS. Frequency: 2/5. (PMID:20220177)
- 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: 5/5. (PMID:20220177)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:20220177)
- Mononeuropathy (HP:0009831): A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. Evidence: IEA. (OMIM:613353)
- 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:20220177)