Phenotypes associated with the disease Autoerythrocyte sensitization syndrome (ORPHA:324636):
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:324636)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324636)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:324636)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:324636)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:324636)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:324636)
- Posttraumatic stress symptom (HP:0033676): A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:324636)
- Impaired platelet adhesion (HP:0008352): An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Abnormal erythrocyte morphology (HP:0001877): Any structural abnormality of erythrocytes (red-blood cells). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:324636)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:324636)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324636)
- 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:324636)
- 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:324636)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324636)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Epigastric pain (HP:0410019): Pain that is localized to the region of the upper abdomen immediately below the ribs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- 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:324636)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Self-injurious behavior (HP:0100716): Self-aggression. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Oral cavity bleeding (HP:0030140): Recurrent or excessive bleeding from the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Intramuscular hematoma (HP:0012233): Blood clot formed within muscle tissue following leakage of blood into the tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Obsessive-compulsive trait (HP:0008770): The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Borderline personality disorder (HP:0012076): A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324636)
- Superficial dermal perivascular inflammatory infiltrate (HP:0031190): Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324636)