- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Purple urine (HP:0040322): An abnormal purple color of the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- Abnormal circulating porphyrin concentration (HP:0010472): Any deviation from the normal concentration of porphyrins in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- 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:100924)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Agitation (HP:0000713): A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- 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:100924)
- 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:100924)
- 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:100924)
- Delirium (HP:0031258): A state of sudden and severe confusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Fluctuations in consciousness (HP:0007159): Changes in one's level of awareness and responsiveness to their environment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- 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:100924)
- Abnormal fear-induced behavior (HP:0100852): An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- 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:100924)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- 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: Frequent (HP:0040282). (ORPHA:100924)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- 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:100924)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- 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:100924)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Myeloproliferative disorder (HP:0005547): Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- 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: Frequent (HP:0040282). (ORPHA:100924)
- Increased erythrocyte protoporphyrin concentration (HP:0012187): Concentration of protoporphyrins in erythrocytes above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- Increased fecal coproporphyrin 3 (HP:0033010): Abnormally high concentration of coproporphyrin 3 in feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- Abnormal erythrocyte enzyme concentration or activity (HP:0030272): An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100924)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Ventilator dependence with inability to wean (HP:0005946). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
- Ankle flexion contracture (HP:0006466). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100924)
These phenotypes are associated with the disease Porphyria due to ALA dehydratase deficiency (ORPHA:100924).
The following phenotypes are NOT associated with this disease:
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. (ORPHA:100924)