Phenotypes associated with the disease Histiocytoid cardiomyopathy (ORPHA:137675):
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:137675)
- Supraventricular tachycardia (HP:0004755): Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:137675)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:137675)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Atrioventricular block (HP:0001678): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Wolff-Parkinson-White syndrome (HP:0001716): A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- 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:137675)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Drowsiness (HP:0002329): Abnormal feeling of sleepiness or difficulty staying awake. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Stroke-like episode (HP:0002401): No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Junctional ectopic tachycardia (HP:0011716): Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137675)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Megalocornea (HP:0000485): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- 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: Very rare (HP:0040284). (ORPHA:137675)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Thromboembolism (HP:0001907): The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Atrial flutter (HP:0004749): A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Shortened PR interval (HP:0005165): Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Laryngeal web (HP:0005950): A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Loss of consciousness (HP:0007185): Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Congenital aphakia (HP:0007707): Absence of the crystalline lens of the eye as a result of a developmental defect. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137675)