Phenotypes associated with the disease Bartter disease type 2 (OMIM:241200):
- Hyposthenuria (HP:0003158): An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Evidence: IEA. (OMIM:241200)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 7/8. (PMID:8841184)
- Hypochloremia (HP:0003113): The concentration of chloride in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:241200)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:241200)
- 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: IEA. (OMIM:241200)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: IEA. (OMIM:241200)
- Abnormally large globe (HP:0001090): Diffusely large eye (with megalocornea) without glaucoma. Evidence: IEA. (OMIM:241200)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. (OMIM:241200)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:241200)
- 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: IEA. (OMIM:241200)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 9/9. (PMID:8841184)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: IEA. (OMIM:241200)
- Increased serum prostaglandin E2 (HP:0003566): An increased concentration of prostaglandin E2 in the blood. Evidence: IEA. (OMIM:241200)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: IEA. (OMIM:241200)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:241200)
- Hypercalciuria (HP:0002150). Evidence: PCS. Frequency: 9/9. (PMID:8841184)
- Increased urinary potassium (HP:0003081): An increased concentration of potassium(1+) in the urine. Evidence: IEA. (OMIM:241200)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: PCS. Frequency: 9/9. (PMID:8841184)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:8841184)
- Renal potassium wasting (HP:0000128): High urine potassium in the presence of hypokalemia. Evidence: IEA. (OMIM:241200)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 9/9. (PMID:8841184)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: IEA. (OMIM:241200)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: TAS. (OMIM:241200)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: IEA. (OMIM:241200)
- Hyperactive renin-angiotensin system (HP:0000841): An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. Evidence: IEA. (OMIM:241200)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:241200)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: PCS. Frequency: 9/9. (PMID:8841184)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:241200)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: IEA. (OMIM:241200)
- Dehydration (HP:0001944). Evidence: IEA. (OMIM:241200)
- Hyperchloriduria (HP:0002914): An increased concentration of chloride in the urine. Evidence: IEA. (OMIM:241200)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: IEA. (OMIM:241200)
- Hyperprostaglandinuria (HP:0003527): An increased concentration of prostaglandin in the urine. Evidence: IEA. (OMIM:241200)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:241200)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: IEA. (OMIM:241200)
- Low-to-normal blood pressure (HP:0002632). Evidence: IEA. (OMIM:241200)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. (OMIM:241200)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:241200)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:241200)
- Hypokalemic metabolic alkalosis (HP:0001960). Evidence: PCS. Frequency: 9/9. (PMID:8841184)
- Fetal polyuria (HP:0001563): Abnormally increased production of urine by the fetus resulting in polyhydramnios. Evidence: IEA. (OMIM:241200)
- Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111): Increased number and size of the juxtaglomerular cells. Evidence: IEA. (OMIM:241200)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:241200)
- Impaired platelet aggregation (HP:0003540): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: IEA. (OMIM:241200)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: IEA. (OMIM:241200)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: IEA. (OMIM:241200)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:241200)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:241200)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: IEA. (OMIM:241200)