Phenotypes associated with the disease acute intermittent porphyria (OMIM:176000):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:176000)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. (OMIM:176000)
- Acute episodes of neuropathic symptoms (HP:0003489). Evidence: IEA. (OMIM:176000)
- 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:176000)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:176000)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: IEA. (OMIM:176000)
- Elevated urinary delta-aminolevulinic acid (HP:0003163): An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. Evidence: TAS. (OMIM:176000)
- Paralytic ileus (HP:0002590). Evidence: IEA. (OMIM:176000)
- Paralysis (HP:0003470): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: IEA. (OMIM:176000)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: IEA. (OMIM:176000)
- Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199): Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal. Evidence: TAS. (OMIM:176000)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: IEA. (OMIM:176000)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:176000)
- Psychotic episodes (HP:0000725): Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. Evidence: IEA. (OMIM:176000)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: IEA. (OMIM:176000)
- Dysuria (HP:0100518): Painful or difficult urination. Evidence: TAS. (OMIM:176000)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: IEA. (OMIM:176000)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. (OMIM:176000)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:176000)
- 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: IEA. (OMIM:176000)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. (OMIM:176000)
- Respiratory paralysis (HP:0002203): Inability to move the muscles of respiration. Evidence: IEA. (OMIM:176000)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: IEA. (OMIM:176000)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: IEA. (OMIM:176000)