IllnessHyperparathyreoidism jaw tumor syndrome
Summary
Guideline-curated single gene sequence analysis according to the clinical suspicion Hyperparathyreoidism jaw tumor syndrome
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CDC73 | 1596 | NM_024529.5 | AD |
Informations about the disease
Hyperparathyroidism-jaw tumor syndrome is caused by tumors in the parathyroid glands. Hyperparathyroidism disturbs the normal calcium balance in the blood, which can lead to kidney stones, osteoporosis, nausea, vomiting, high blood pressure, weakness and fatigue. Usually, only one of the four parathyroid glands is affected by benign adenomas. About 15% of these patients develop parathyroid carcinoma. (Upper) Jaw fibromas are observed in 25-50% of affected individuals, in addition to other tumors of the uterus (75% of women) and kidneys (20%, usually benign). The disease is inherited in an autosomal dominant manner. Mutations in the CDC73 gene cause hyperparathyroidism-jaw tumor syndrome. In most patients, mutations are detected by sequencing (70%) or targeted deletion/duplication analysis (<30%). Because the diagnostic yield via molecular genetics is not complete, a negative DNA test result does not exclude the clinical diagnosis.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK3789/
- Alias: Familial cystic parathyroid adenomatosis
- Alias: Familial primary hyperparathyroidism with multiple ossifying jaw fibromas
- Alias: Hereditary hyperparathyroidism-jaw tumor syndrome
- Alias: Hyperparathyroidism 2
- Hyperparathyroidism, familial primary (CDC73)
- Hyperparathyroidism-jaw tumour syndrome, HPT-JT (CDC73)
- Parathyroid adenoma with cystic changes (CDC73)
- Parathyroid carcinoma (CDC73)
- AD
Bioinformatics and clinical interpretation
No text defined