Phenotypes associated with the disease hypersulfaturia (OMIM:620372, an entry in Online Mendelian Inheritance in Man):
- Costochondral pain (HP:0006649, a Human Phenotype Ontology term): Chest wall pain in the area of the costochondral junctions. Evidence: PCS. Frequency: 1/1. (PMID:36719378)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:36719378)
- Increased urinary sulfate (HP:0012613, a Human Phenotype Ontology term): Elevated concentration of SO4(2-), i.e., sulfate, in the urine. Evidence: PCS. Frequency: 1/1. (PMID:36719378)
- Decreased circulating sulfate concentration (HP:6000854, a Human Phenotype Ontology term): The concentration of sulfate in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:36719378)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:36719378)
- Kidney stone (HP:0000787, a Human Phenotype Ontology term): 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: 1/1. (PMID:36719378)