Hyperparathyroidism-jaw tumor syndrome
Synonyms: HPT-JT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperparathyroidism-jaw tumor syndrome | HPT-JT |
| fr | Syndrome d'hyperparathyroïdie-tumeur mandibulaire | = en |
| de | Hyperparathyreoidismus-Kiefertumor-Syndrom (HPT-JT) | |
| es | Hiperparatiroidismo-síndrome de tumor de mandíbula | |
| it | Sindrome iperparatiroidismo-tumore della mandibola | = en |
| nl | Hyperparathyreoïdie - kaaktumor-syndroom | = en |
| pt | Síndrome hiperparatiroidismo-tumor da mandíbula | = en |
| pl | Zespół nadczynność przytarczyc - guz szczęki | = en |
| cs | Syndrom zahrnující hyperparathyroidismus a nádor čelisti | = en |
| uk | Синдром гіперпаратиреозу-пухлини щелепи | = en |
| zh | 甲状旁腺功能亢进-颌面肿瘤综合征 | = en |
| tr | Hiperparatiroidi-çene tümörü sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145001 | NTBT | validated | |
| ICD-10 | E21.0 | NTBT | attributed | validated |
| ICD-11 | 5A51.0 | NTBT | index | validated |
| MONDO | 0007768 | E | validated | |
| MONDO | 7768 | E | validated | |
| UMLS | C1704981 | E | validated | |
| GARD | 10829 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:2207Familial primary hyperparathyroidism
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDC73 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:16783 | ENSG00000134371 | 607393 | 1q31.2 | cell division cycle 73 | 12434154[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 25511968[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25511968[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2016-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003072 | Hypercalcemia | Diagnostic criterion |
| HP:0002897 | Parathyroid adenoma | |
| 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:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000939 | Osteoporosis | |
| HP:0001959 | Polydipsia | |
| HP:0012232 | Shortened QT interval | |
| HP:0000131 | Uterine leiomyoma | |
| 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]_NBK3789[OTHER]_26163537[PMID]_23293331[PMID]_14585940[PMID]_15606373[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99880
- This record as JSON: /data/d/99880.json