Phenotypes associated with the disease Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575):
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- Hypoketotic hypoglycemia (HP:0001985): A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- Fasting hypoglycemia (HP:0003162). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- Elevated circulating C-peptide concentration (HP:0030796): The concentration of C-peptide in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- Excessive insulin response to glucagon test (HP:0031084): An abnormally high increase in insulin levels following a glucagon stimulation test. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- Decreased circulating free fatty acid level (HP:0040299). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276575)
- 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: Frequent (HP:0040282). (ORPHA:276575)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Episodic hyperhidrosis (HP:0001069): Intermittent episodes of abnormally increased perspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Large for gestational age (HP:0001520): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Hypoglycemic seizures (HP:0002173). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Drowsiness (HP:0002329): Abnormal feeling of sleepiness or difficulty staying awake. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Neurodevelopmental abnormality (HP:0012759): A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Focal pancreatic islet hyperplasia (HP:0031223): Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- Diffuse pancreatic islet hyperplasia (HP:0031224): Hyperplasia of the islets of Langerhans with a generalized distribution. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276575)
- 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: Occasional (HP:0040283). (ORPHA:276575)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- Hypoglycemic coma (HP:0001325): Coma induced by low blood sugar. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- Status epilepticus (HP:0002133): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- Polyphagia (HP:0002591): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- 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: Occasional (HP:0040283). (ORPHA:276575)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276575)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276575)