Phenotypes associated with the disease Riley-Day syndrome (OMIM:223900):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. (OMIM:223900)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: IEA. (OMIM:223900)
- Orthostatic hypotension (HP:0001278): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: IEA. (OMIM:223900)
- Corneal ulceration (HP:0012804): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: TAS. (OMIM:223900)
- Pupillary hypersensitivity to parasympathomimetic agents (HP:6000993): A higher than normal tendency of parasympathomimetic agents to induce miosis. Evidence: PCS. (PMID:20301359)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:223900)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: IEA. (OMIM:223900)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:223900)
- Abnormal renal physiology (HP:0012211): An abnormal functionality of the kidney. Evidence: IEA. (OMIM:223900)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: IEA. (OMIM:223900)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: IEA. (OMIM:223900)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: IEA. (OMIM:223900)
- Decreased sensitivity to hypoxemia (HP:0005947): Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. Evidence: IEA. (OMIM:223900)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:223900)
- Recurrent corneal erosions (HP:0000495): The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. Evidence: IEA. (OMIM:223900)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:223900)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: IEA. (OMIM:223900)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:223900)
- Episodic hyperhidrosis (HP:0001069): Intermittent episodes of abnormally increased perspiration. Evidence: IEA. (OMIM:223900)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:223900)
- Decreased number of large peripheral myelinated nerve fibers (HP:0003387): A reduced number of large myelinated nerve fibers. Evidence: IEA. (OMIM:223900)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:223900)
- Acrocyanosis (HP:0001063): Bluish discoloration of the skin of the hands or feet. Evidence: IEA. (OMIM:223900)
- Recurrent infections due to aspiration (HP:0004891): Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. Evidence: IEA. (OMIM:223900)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: IEA. (OMIM:223900)
- 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: IEA. (OMIM:223900)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:223900)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11179008)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: IEA. (OMIM:223900)
- Hypogeusia (HP:0000224): A decreased ability to perceive flavor. Evidence: IEA. (OMIM:223900)
- Neuropathic arthropathy (HP:0002821). Evidence: IEA. (OMIM:223900)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:223900)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: IEA. (OMIM:223900)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: IEA. (OMIM:223900)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: IEA. (OMIM:223900)