Phenotypes associated with the disease Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (ORPHA:79644):
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79644)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79644)
- Recurrent hypoglycemia (HP:0001988): Recurrent episodes of decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79644)
- 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:79644)
- Abnormal response to glucagon stimulation test (HP:0031080): An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79644)
- Elevated circulating growth hormone concentration (HP:0000845): Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79644)
- 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:79644)
- 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:79644)
- Diffuse pancreatic islet hyperplasia (HP:0031224): Hyperplasia of the islets of Langerhans with a generalized distribution. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79644)
- Decreased circulating free fatty acid level (HP:0040299). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79644)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
- 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:79644)
- Neonatal hypoglycemia (HP:0001998). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
- Increased circulating cortisol level (HP:0003118): Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
- Multiple pancreatic beta-cell adenomas (HP:0008194): The presence of multiple pancreatic islet cell adenomas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
- 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:79644)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79644)
Not associated with this disease:
- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: TAS. (ORPHA:79644)