- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79276)
- Elevated urinary delta-aminolevulinic acid (HP:0003163): An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79276)
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79276)
- Increased urinary porphobilinogen (HP:0012217): The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79276)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79276)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Neck pain (HP:0030833): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79276)
- Restlessness (HP:0000711): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Hallucinations (HP:0000738): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Respiratory paralysis (HP:0002203): Inability to move the muscles of respiration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Ileus (HP:0002595): Acute obstruction of the intestines preventing passage of the contents of the intestines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Weakness of muscles of respiration (HP:0004347): Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Motor axonal neuropathy (HP:0007002): Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Pseudobulbar paralysis (HP:0007024): Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Paranoia (HP:0011999): The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Dark urine (HP:0040319): An abnormal dark color of the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Insomnia (HP:0100785): Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79276)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79276)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79276)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79276)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79276)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79276)
- Dysuria (HP:0100518): Painful or difficult urination. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79276)
These phenotypes are associated with the disease Acute intermittent porphyria (ORPHA:79276).
The following phenotypes are NOT associated with this disease:
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. (ORPHA:79276)