Endocrinology · Endocrinology / Endocrine oncology
Hyperparathyroidism–jaw tumor syndrome
also: HPT-JT syndrome
Primary hyperparathyroidism with ossifying fibromas of jaw and uterine tumors.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Endocrine oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, adolescence
- Gene(s) involved
- CDC73
- Alternative names & eponyms
- HPT-JT syndrome
Etiology & mechanism
Loss of parafibromin tumor suppressor.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Hyperparathyroidism–jaw tumor syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Multiple endocrine neoplasia type 1
hypercalcemia, kidney stones
2 shared
Multiple endocrine neoplasia type 2A
hypercalcemia, kidney stones
1 shared
Burnett syndrome
hypercalcemia
1 shared
Caroli syndrome
renal cysts
1 shared
Hereditary leiomyomatosis and renal cell cancer syndrome
uterine fibroids
1 shared
Kelley–Seegmiller syndrome
kidney stones
1 shared
Lesch–Nyhan syndrome
kidney stones
1 shared
Michelis–Castrillo syndrome
kidney stones
1 shared
Williams syndrome
hypercalcemia
1 shared
Zellweger syndrome
renal cysts
Shares genes with
None.
Loading…
Loading…