About: hyperparathyroidism-jaw tumor syndrome

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
rdfs:label	Zespół nadczynności przytarczyc i guza szczęki lub żuchwy (pl) hyperparathyroidism-jaw tumor syndrome (en) syndrome d'hyperparathyroïdie-tumeur mandibulaire (fr)
skos:prefLabel	Zespół nadczynności przytarczyc i guza szczęki lub żuchwy (pl) hyperparathyroidism-jaw tumor syndrome (en) syndrome d'hyperparathyroïdie-tumeur mandibulaire (fr)
name	Zespół nadczynności przytarczyc i guza szczęki lub żuchwy (pl) hyperparathyroidism-jaw tumor syndrome (en) syndrome d'hyperparathyroïdie-tumeur mandibulaire (fr)
instance of	wds:Q9390545-A99E238A-199D-4E94-91A0-8E44755818F0
instance of	class of disease
subclass of	wds:Q9390545-7260de5a-4dd0-88d0-c1be-34279da93805
subclass of	hyperparathyroidism
UniProt disease ID	wds:Q9390545-391e7ccc-47a6-3c17-2d0a-0f8d05ddf222
Orphanet ID	wds:Q9390545-5c34dd59-48a7-e79f-dded-3075322c9606
genetic association	wds:Q9390545-003483DE-6FE4-4713-9A68-A784E1E2C2E8
PatientsLikeMe condition ID	wds:Q9390545-0860df31-4aaa-472b-af68-5cfe668be7e5
GARD rare disease ID	wds:Q9390545-83544044-0801-41FB-BCE6-8B72632AA459
OMIM ID	wds:Q9390545-8929f4fe-44b6-97e7-e7af-72525afafaed
Genetics Home Reference Conditions ID	wds:Q9390545-6A163F6B-7A29-4DCB-A9A1-ACE6F5BCA712
UniProt disease ID	DI-01780
Orphanet ID	99880
genetic association	CDC73
PatientsLikeMe condition ID	hpjt
GARD rare disease ID	10829
OMIM ID	145001
Genetics Home Reference Conditions ID	hyperparathyroidism-jaw-tumor-syndrome
skos:altLabel	HPT-JT (pl)
is about of	https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_nadczynno%C5%9Bci_przytarczyc_i_guza_szcz%C4%99ki_lub_%C5%BCuchwy https://www.wikidata.org/wiki/Special:EntityData/Q9390545
is main subject of	HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31 Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome: a case report Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome Hyperparathyroidism-jaw tumor syndrome: Results of operative management Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia. [Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma] Hyperparathyroidism-jaw tumor syndrome: a case report [An uncommon cause of hypercalcemia: synchronous carcinoma of two parathyroids in the context of hyperparathyroidism-jaw tumor syndrome] A Case of Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing. Hyperparathyroidism-jaw tumor syndrome. A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2 Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome. Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature. HIGH RISK OF PARATHYROID CARCINOMA AND GENETIC SCREENING IN THE FIRST DIAGNOSED ROMANIAN FAMILY WITH HYPERPARATHYROIDISM-JAW TUMOR SYNDROME AND A GERMLINE MUTATION OF THE CDC73 GENE Hyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion. Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease Primary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis [Hyperparathyroidism--jaw tumor syndrome] Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome OVARIAN GRANULOSA CELL TUMOR IN A PATIENT WITH A PATHOGENIC VARIANT IN THE CDC73 GENE (HYPERPARATHYROIDISM-JAW TUMOR SYNDROME) Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome
is main subject of	wds:Q34308909-527BF35D-57EF-46C2-B114-4BDFF9226FCC wds:Q47790702-F8D1A9E4-2E63-4916-8B7D-50B3A7E53D4E wds:Q48005651-AA6D05D2-9648-4DFE-B7E7-4ABEE6E43EF4 wds:Q84073002-2A5C4B76-D558-4142-9F66-FBF086DA1AF7 wds:Q36442958-90004F34-D536-47B2-8C30-85C9BA7B8BA1 wds:Q38515604-57D7A96F-E37F-4D12-A68B-0D2CB03A6935 wds:Q93164316-5BF1D79F-1EC3-42C9-8406-CCD33095F02F wds:Q94360405-2D11A47A-5A81-4CAD-B3A8-177EFAD0A8C9 wds:Q37281220-49CDD3F0-3B05-4261-ADE3-16DB7A0B62C4 wds:Q34630850-9B878734-C1E7-4847-8D0C-96123D598DBD wds:Q47799160-B3F1490F-A8E6-4941-A67B-37650A0B23EB wds:Q51483082-5FD076E3-D723-4386-ABC1-9BD34D658E8E wds:Q53350124-2C94D065-53EF-4FEC-BBC6-30A4928B805B wds:Q73687509-B73A6A22-4128-4962-916B-47F651884CE6 wds:Q83177373-68FCE2A3-5584-43F2-AAF9-39EDAE559088 wds:Q34159232-78309822-70B3-488C-B6E9-535AB0AEFE4E wds:Q24563738-FA8A699B-3692-4B9D-A329-09EF93FD29B1 wds:Q34993892-640834B6-CF63-4CAD-B308-7AFFC391A8C6 wds:Q24672747-1BE9E7D0-54BC-4800-918D-99B0707CECC9 wds:Q42269577-8FEC80D8-E51A-419A-B96B-4DE804C76D73 wds:Q47547675-75D3460A-5F87-415A-BF1A-F5C797E3EB50 wds:Q80510787-F86C9DB1-2AD6-4E81-A0F7-4E3B74FDD30C wds:Q89495994-16A52E29-1C93-4D54-A4A4-D8D8BABF1108

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