Phenotypes associated with the disease hypoparathyroidism, familial isolated 1 (OMIM:146200):
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 1/2. (PMID:2212001)
- Hypocalcemic seizures (HP:0002199). Evidence: PCS. Frequency: 2/2. (PMID:2212001)
- Decreased circulating parathyroid hormone level (HP:0031817): An abnormally decreased concentration of parathyroid hormone. Evidence: PCS. Frequency: 2/2. (PMID:2212001)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:2212001)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: PCS. Frequency: 1/2. (PMID:2212001)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: PCS. Frequency: 2/2. (PMID:2212001)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:146200)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: PCS. Frequency: 1/2. (PMID:2212001)
- Chvostek sign (HP:0031990): A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. Evidence: PCS. Frequency: 1/2. (PMID:2212001)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:2212001)
- 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: IEA. (OMIM:146200)
- Episodic (HP:0025303): Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurrences are separated by an interval in which the sign, symptom, or manifestation is not present. Evidence: PCS. Frequency: 1/2. (PMID:2212001)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:2212001)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: IEA. (OMIM:146200)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:2212001)