Diseases of the musculoskeletal system and connective tissue
Arthropathies
Autosomal recessive
12p13.32
Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by elevated serum phosphate levels and the deposition of phosphate and calcium in the periarticular soft tissues of the body. Affected individuals thus suffer from recurrent ectopic calcified masses, most commonly in the hips, elbows and shoulders.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617993.1.01 | Lebanon | Female | Yes | No | Hyperphosphatemia ; Calcinosis Hyperphosphatemia ; Calcinosis  | NM_020638.3:c.367G>T | Homozygous | Autosomal, Recessive | Chakhtoura et al, 2018 | Proband |
| 617993.1.06 | Lebanon | Female | Yes | No | Hyperphosphatemia ; Calcinosis Hyperphosphatemia ; Calcinosis | NM_020638.3:c.367G>T | Homozygous | Autosomal, Recessive | Chakhtoura et al, 2018 | Double first cousin ... |
| 617993.G.1 | Palestine | Yes | Yes | Calcinosis; Hyperphosphatemia Calcinosis; Hyperphosphatemia | NM_020638.3:c.386C>T | Homozygous | Autosomal, Recessive | Shawar et al. 2016 | 5 patients from the ... |