Phenotypes associated with the disease tumoral calcinosis, hyperphosphatemic, familial, 3 (OMIM:617994):
- Achilles tendon calcification (HP:0025441): Ectopic deposition of calcium salts in the Achilles tendon. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Calvarial osteosclerosis (HP:0005450): An increase in bone density affecting the calvaria (roof of the skull). Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Elevated circulating calcitriol concentration (HP:0031415): The concentration of calcitriol in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Metacarpal periosteal thickening (HP:0006051). Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: PCS. Frequency: 0/1. (PMID:17710231)
- 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: PCS. Frequency: 1/1. (PMID:17710231)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- 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:17710231)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. Frequency: 0/1. (PMID:17710231)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: PCS. Frequency: 1/1. (PMID:17710231)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 0/1. (PMID:17710231)
- Parathyroid hyperplasia (HP:0008208): Hyperplasia of the parathyroid gland. Evidence: PCS. Frequency: 1/1. (PMID:17710231)