ORPHA:143
Parathyroid carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parathyroid carcinoma | |
| fr | Carcinome parathyroidien | Cancer de la parathyroïde |
| de | Nebenschilddrüsen-Karzinom | |
| es | Carcinoma de paratiroides | |
| it | Carcinoma delle paratiroidi | |
| nl | Bijschildkliercarcinoom | |
| pt | Carcinoma das paratiroides | |
| pl | Rak przytarczyc | |
| cs | Karcinom příštítných tělísek | |
| uk | Паратиреоїдна карцинома | |
| zh | 甲状旁腺癌 | |
| tr | Paratiroid karsinomu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608266 | E | validated | |
| ICD-10 | C75.0 | NTBT | attributed | validated |
| ICD-11 | 2D12.Y | NTBT | index | validated |
| MONDO | 0012004 | E | validated | |
| MeSH | D010282 | E | validated | |
| UMLS | C0687150 | E | validated | |
| GARD | 7329 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:181408Rare hyperparathyroidism
rare endocrine diseases - ORPHA:100090Rare parathyroid tumor
rare endocrine diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDC73 | Disease-causing somatic mutation(s) in | Assessed | HGNC:16783 | ENSG00000134371 | 607393 | 1q31.2 | cell division cycle 73 | 14585940[PMID]_15719375[PMID] |
5
Prevalence and incidence
27 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe 2011[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.28 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | — | United States | Class only | Validated | 26708847[PMID]_17372919[PMID]_SEER Surveillance Epidemiology and End Results Program 2003[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.037 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.016 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.005 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.008 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.005 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.006 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.045 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.011 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.027 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.013 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.037 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.009 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.045 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.017 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.043 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.031 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.052 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.011 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.008 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.031 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
36 annotations · validated 2016-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003072 | Hypercalcemia | Diagnostic criterion |
| HP:0006780 | Parathyroid carcinoma | |
| HP:0008200 | Primary hyperparathyroidism | |
| Very frequent (99-80%) | ||
| HP:0011766 | Abnormality of the parathyroid morphology | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0002150 | Hypercalciuria | |
| HP:0002148 | Hypophosphatemia | |
| Frequent (79-30%) | ||
| HP:0002015 | Dysphagia | |
| HP:0012378 | Fatigue | |
| HP:0010614 | Fibroma | |
| HP:0001609 | Hoarse voice | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000939 | Osteoporosis | |
| HP:0001959 | Polydipsia | |
| HP:0012232 | Shortened QT interval | |
| HP:0000131 | Uterine leiomyoma | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002653 | Bone pain | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0002019 | Constipation | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0002315 | Headache | |
| HP:0200025 | Mandibular pain | |
| HP:0001324 | Muscle weakness | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001733 | Pancreatitis | |
| HP:0004398 | Peptic ulcer | |
| HP:0000107 | Renal cyst | |
| HP:0008696 | Renal hamartoma | |
| HP:0000083 | Renal insufficiency | |
| Very rare (<4-1%) | ||
| HP:0012032 | Lipoma | |
| HP:0002667 | Nephroblastoma | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0010788 | Testicular neoplasm | |
| HP:0002890 | Thyroid carcinoma | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 14585940[PMID]_20301744[PMID]_26163537[PMID]_23293331[PMID]_14585940[PMID]_15606373[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/143
- This record as JSON: /data/d/143.json