Phenotypes associated with the disease congenital insensitivity to pain syndrome, Marsili type (OMIM:147430):
- Painless fractures due to injury (HP:0002661): An increased tendency to fractures following trauma, with fractures occurring without pain. Evidence: PCS. (PMID:29253101)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 6/6. Onset: Infantile onset (HP:0003593). (PMID:29253101)
- Decreased corneal reflex (HP:0008000): An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. Evidence: PCS. Frequency: 6/6. (PMID:29253101)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: PCS. Frequency: 6/6. Onset: Infantile onset (HP:0003593). (PMID:29253101)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 15/16. (PMID:29253101)
- Corneal scarring (HP:0000559). Evidence: PCS. Frequency: 0/6. (PMID:29253101)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. (PMID:29253101)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. (PMID:29253101)
- 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:29253101)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: PCS. Frequency: 0/6. (PMID:29253101)