- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. (OMIM:211900)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:15599692)
- Calcinosis (HP:0003761): Formation of calcium deposits in any soft tissue. Evidence: PCS. Frequency: 3/5. (PMID:15687324)
- Angioid streaks (HP:0001102): Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid). Evidence: TAS. (OMIM:211900)
- Pulp calcification (HP:0003771): Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. Evidence: TAS. (OMIM:211900)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 0/2. (PMID:15599692)
- Decreased renal tubular phosphate excretion (HP:0005572). Evidence: TAS. (OMIM:211900)
- Subperiosteal bone formation (HP:0031485): The formation of new bone along the cortex and underneath the periosteum of a bone. Evidence: IEA. (OMIM:211900)
- Increased renal tubular phosphate reabsorption (HP:0005571). Evidence: TAS. (OMIM:211900)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 0/2. (PMID:15599692)
- Elevated circulating calcitriol concentration (HP:0031415): The concentration of calcitriol in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:15687324)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: PCS. Frequency: 2/2. (PMID:15599692)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 7/7. (PMID:15687324;PMID:15599692)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. (OMIM:211900)
- Taurodontia (HP:0000679): Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. Evidence: TAS. (OMIM:211900)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: PCS. Frequency: 0/2. (PMID:15599692)
- 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:15687324)
- Vascular calcification (HP:0004934): Abnormal calcification of the vasculature. Evidence: TAS. (OMIM:211900)
- Conjunctival whitish salt-like deposits (HP:0007799): The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. Evidence: TAS. (OMIM:211900)
These phenotypes are associated with the disease tumoral calcinosis, hyperphosphatemic, familial, 1 (OMIM:211900).