Síndrome hereditária autossômica dominante caracterizada pelo desenvolvimento de adenoma ou carcinoma de paratireóide, fibroma ossificante da mandíbula e maxila, neoplasias renais e cistos renais.
Introdução
O que você precisa saber de cara
Síndrome hereditária autossômica dominante caracterizada pelo desenvolvimento de adenoma ou carcinoma de paratireóide, fibroma ossificante da mandíbula e maxila, neoplasias renais e cistos renais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 44 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and
Nucleus
Hyperparathyroidism 1
An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas.
Variantes genéticas (ClinVar)
1,599 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome hiperparatireoidismo-tumor da mandíbula
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.
Primary hyperparathyroidism (PHPT) in the pediatric population is a rare but clinically important endocrine disorder that poses significant diagnostic and therapeutic challenges. In contrast to adult PHPT, which is often detected incidentally, pediatric patients are frequently symptomatic at diagnosis, with manifestations reflecting prolonged exposure to hypercalcemia and elevated parathyroid hormone levels. Neonatal forms, particularly neonatal severe hyperparathyroidism, represent life-threatening conditions requiring prompt biochemical recognition and urgent intervention. The heterogeneity of clinical presentation and the rarity of the disease contribute to delayed diagnosis and increased risk of end-organ complications. Although hereditary syndromes are proportionally more frequent in children than in adults, sporadic PHPT remains the most common etiology in pediatric patients and is typically caused by a single parathyroid adenoma. Genetically determined forms, including multiple endocrine neoplasia syndromes, hyperparathyroidism-jaw tumor syndrome, and calcium-sensing receptor-related disorders, are often associated with multiglandular disease, earlier onset, and a higher risk of persistence or recurrence. Biochemical confirmation remains the cornerstone of PHPT diagnosis, while diagnostic imaging plays an important role in preoperative localization and surgical planning. High-resolution cervical ultrasound is the preferred first-line imaging modality in pediatric patients due to its excellent diagnostic performance and absence of ionizing radiation. Functional and advanced cross-sectional imaging techniques should be applied in a stepwise manner in selected cases with inconclusive first-line imaging or suspected ectopic disease, balancing diagnostic yield against radiation exposure. Surgical management remains the definitive treatment for pediatric PHPT. The extent of surgery is determined by disease etiology, localization findings, and intraoperative assessment, with focused parathyroidectomy favored in sporadic single-gland disease and more extensive approaches required in genetically determined forms. This review highlights a structured diagnostic and therapeutic pathway for pediatric PHPT, emphasizing the integration of biochemical testing, imaging strategies, genetic evaluation, and individualized surgical management to optimize outcomes and reduce long-term morbidity.
Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.
Uterine adenofibroma was previously classified as a benign mixed epithelial and mesenchymal tumor, but the WHO removed it from its fifth edition due to diagnostic overlap with low-grade adenosarcoma or benign polyps. We report a case of a 21-year-old woman with a recurrent uterine polypoid tumor initially diagnosed as adenofibroma on biopsy and resected multiple times. MRI revealed heterogeneous intrauterine masses with cystic changes, and PET-CT showed weak FDG uptake. Eventually, hysterectomy confirmed adenofibroma. She also had a prior diagnosis of primary hyperparathyroidism caused by parathyroid adenoma. Due to the early onset and recurrent uterine tumors, hyperparathyroidism-jaw tumor syndrome (HPT-JT) was suspected. Immunohistochemistry showed loss of parafibromin expression in the uterine tumor, supporting the diagnosis. This case highlights the importance of considering genetic syndromes such as HPT-JT in young patients with recurrent uterine tumors, enabling appropriate surveillance for associated neoplasms in the parathyroid, jaw, and kidneys.
Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.
Primary hyperparathyroidism (PHPT) is a rare condition during pregnancy, but it is associated with significant maternal and fetal risks, including miscarriage, preeclampsia, and preterm birth. Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare genetic form of PHPT caused by mutations in the CDC73 gene. Managing PHPT during pregnancy is particularly challenging. While surgery remains the definitive treatment, it carries increased risk of complications during pregnancy. Pharmacological options are generally contraindicated or have limited safety data, limiting available therapeutic strategies. We report the case of a 19-year-old woman with genetically confirmed HPT-JT syndrome who became pregnant while awaiting parathyroidectomy. Given the stability of serum calcium levels, absence of complications, and concerns regarding adherence to follow-up, a conservative management strategy was adopted, consisting of oral hydration, dietary calcium restriction, and close monitoring throughout gestation. The pregnancy progressed uneventfully, and a successful postpartum parathyroidectomy led to biochemical normalization. This case illustrates the challenges in managing PHPT during pregnancy and supports the potential safety of individualized conservative approaches in selected cases with stable disease. Primary hyperparathyroidism (PHPT) during pregnancy is rare but may be associated with significant maternal and fetal risks; individualized management is essential. While parathyroidectomy is the only definitive treatment for PHPT, deferring surgery until the postpartum period may be a reasonable option in selected stable cases without complications. Conservative management with hydration and dietary calcium restriction may be a safe alternative in selected pregnant patients with stable, mild-to-moderate hypercalcemia. Genetic evaluation is critical in young patients with PHPT and relevant family history, as hereditary syndromes such as HPT-JT syndrome require long-term multidisciplinary surveillance.
Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.
Parathyroid carcinoma is the rarest etiological cause of primary hyperparathyroidism and is exceedingly rare in the pediatric population. Clinical manifestations include severe hypercalcemia, pathological fractures, and bone pain. Diagnosis is typically established through surgical intervention and histopathological examination; however, genetic analyses can also support the diagnosis. A 10-year-10-month-old female presented with fatigue, leg pain, and a pathological fracture in her left forearm. Laboratory tests revealed hypercalcemia, hypophosphatemic hypercalcemia, and hyperparathyroidism. Imaging studies identified a 17 mm hypervascular hypoechoic lesion in the left paratracheal area. Surgical intervention included left inferior and superior parathyroidectomy and left thyroidectomy. Histopathology showed atypical parathyroid neoplasia and thyroid hyperplasia. Genetic testing revealed a pathogenic CDC73 mutation (p.E48*, c.142G>T). The patient is under regular follow-up for hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinoma. This case highlights the importance of early genetic testing in pediatric primary hyperparathyroidism (PHP), particularly for detecting CDC73 gene mutations associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). Early diagnosis allows for timely intervention, surgical planning, and long-term surveillance to manage potential complications such as parathyroid carcinoma and ossifying fibromas.
Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.
Most cases of primary hyperparathyroidism (PHPT) are sporadic and are caused by parathyroid adenomas. Hereditary forms may occur in up to 10% of PHPT patients and are more frequent in younger patients. The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is characterized by PHPT in up to 95% of patients and ossifying fibromas in the jaw in 25%-50%. We describe the case of a 35-year-old male from Bangladesh referred to our hospital due to a voluminous right mandibular swelling: a rare nonossifying fibroma of the mandible was diagnosed. Due to functional impotence, a left shoulder magnetic resonance imaging (MRI) was performed with evidence of a pluri-lobulated cyst-like lesion in the proximal humeral area diagnosed as a brown tumor (BT). Subsequent tests highlighted hypercalcemia and hypophosphatemia with high PTH levels. A heterozygous CDC73 pathogenic variant c.96>A p.Trp32Ter was identified. To the best of our knowledge, this is the first reported case of HPT-JT syndrome related to a CDC73 pathogenic variant, associated to a BT of the arm and a rare nonossifying fibroma of the mandible.
Publicações recentes
Diagnostic Dilemma Involving a Rare Case of a CDC73 Parafibromin-Deficient Parathyroid Adenoma.
Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.
Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.
Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.
Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.
📚 EuropePMC72 artigos no totalmostrando 90
Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.
Diagnostics (Basel, Switzerland)Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.
Radiology case reportsChallenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.
Endocrinology, diabetes & metabolism case reportsAtypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.
Journal of pediatric endocrinology & metabolism : JPEMHyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.
Case reports in endocrinologyUpdated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.
Clinical cancer research : an official journal of the American Association for Cancer ResearchClinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.
Annales d'endocrinologieOncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives.
Acta cytologicaHyperparathyroidism-Jaw Tumor Syndrome: A Rare Case Report and Literature Review.
Clinical case reportsHyperparathyroidism-Jaw Tumor Syndrome: A Case Diagnosed After the Removal of Multiple Ossifying Fibromas of the Jaws.
JCEM case reportsHeritable hyperparathyroidism: Genetic insights and clinical implications.
Best practice & research. Clinical endocrinology & metabolismCongenital primary hyperparathyroidism.
Best practice & research. Clinical endocrinology & metabolismRenal Neoplasia: Rare Subtypes and Uncommon Clinical Presentations.
Surgical pathology clinicsA Novel Pathogenic CDC73 Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome.
JCEM case reportsChapter 5: The roles of genetics in primary hyperparathyroidism.
Annales d'endocrinologieChapter 6: Syndromic primary hyperparathyroidism.
Annales d'endocrinologieGenotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
The Journal of clinical endocrinology and metabolismThe Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.
Calcified tissue internationalCDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.
JBMR plusPediatric parathyroid carcinoma and hyperparathyroidism-jaw tumor syndrome: A case report and literature review.
International journal of pediatric otorhinolaryngologyA Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations.
The Journal of clinical endocrinology and metabolismHyperparathyroidism Jaw Tumor Syndrome, an Unforeseen Diagnosis.
JCEM case reportsA family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome.
Frontiers in endocrinologyPhenotype of Parathyroid-targeted Cdc73 Deletion in Mice Is Strain-dependent.
Journal of the Endocrine SocietyA Novel CDC73 Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney.
JCEM case reportsRecurrent Primary Hyperparathyroidism in Hyperparathyroid Jaw Tumor Syndrome: A Case Report.
CureusPhenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
The Journal of clinical endocrinology and metabolism[Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism].
Chirurgie (Heidelberg, Germany)Parathyroid carcinoma: molecular therapeutic targets.
EndocrineRare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Molecular genetics & genomic medicineThe clinicopathological and prognostic significances of CDC73 expression in breast cancer: A pathological and bioinformatics analysis.
Histology and histopathologyEpidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchHyperparathyroidism Jaw-Tumor Syndrome: A Case Report From a Radiological View.
CureusParathyroid Carcinoma: a Review.
Indian journal of surgical oncologyExpression of Beta-Catenin, Cadherins and P-Runx2 in Fibro-Osseous Lesions of the Jaw: Tissue Microarray Study.
BiomoleculesUpdate from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.
Head and neck pathologyPathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
CellsHereditary Primary Hyperparathyroidism.
Endocrinology and metabolism clinics of North AmericaRenal Neoplasia in Hyperparathyroidism-Jaw Tumor Syndrome.
Mayo Clinic proceedingsParafibromin Abnormalities in Ossifying Fibroma.
Journal of the Endocrine SocietyDo Patients With Atypical Parathyroid Adenoma Need Close Follow-up?
The Journal of clinical endocrinology and metabolismA large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Endocrine18F-FDG PET/CT in the Hyperparathyroidism-Jaw-Tumor Syndrome.
Clinical nuclear medicineHyperparathyroidism-Jaw Tumor Syndrome.
Case reports in oncologyA Woman with a 27-Year History of Hyperparathyroidism and Hypercalcemia Who Was Diagnosed with Low-Grade Parathyroid Carcinoma.
The American journal of case reportsOssifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures.
Journal of dental sciencesMultiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
Journal of the Endocrine SocietyOutcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
Hormones & cancerGnathic Bones and Hyperparathyroidism: A Review on the Metabolic Bony Changes Affecting the Mandible and Maxilla in case of Hyperparathyroidism.
Advances in medicineSecondary renal neoplasia following chemotherapy or radiation in pediatric patients.
Human pathologyGenotype of CDC73 germline mutation determines risk of parathyroid cancer.
Endocrine-related cancerHEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: New and future perspectives for parathyroid carcinoma.
Endocrine-related cancerLate-onset postsurgical hypoparathyroidism following parathyroidectomy for recurrent primary hyperparathyroidism: a case report and literature review.
EndocrineHyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease.
Case reports in endocrinologyParathyroid cancer: An update.
Cancer treatment reviewsHIGH 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.
Acta endocrinologica (Bucharest, Romania : 2005)OVARIAN GRANULOSA CELL TUMOR IN A PATIENT WITH A PATHOGENIC VARIANT IN THE CDC73 GENE (HYPERPARATHYROIDISM-JAW TUMOR SYNDROME).
AACE clinical case reportsClinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.
International journal of endocrinologyPediatric Parathyroid Carcinoma: A Case Report and Review of the Literature.
Journal of the Endocrine SocietyLong-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.
World journal of surgeryBenign polypoid adenomyomatous endometrium associated with hpt-JT syndrome: a case report.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyAtypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors.
Endocrine-related cancerChallenges in the treatment of parathyroid carcinoma: a case report.
Hormones (Athens, Greece)Primary Hyperparathyroidism.
Frontiers of hormone researchEvolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchCDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors.
UrologyJaw tumor in recurrent primary hyperparathyroidism: A case report.
International journal of surgery case reportsInherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome.
Journal of clinical research in pediatric endocrinologyProbability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.
Journal of the American College of SurgeonsOsteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature.
National journal of maxillofacial surgeryParafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.
The American journal of surgical pathologyHyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion.
Journal of the Endocrine SocietyHyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing.
Internal medicine (Tokyo, Japan)Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeMolecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Human mutationPrimary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.
Endocrine connectionsNext generation immunohistochemistry: Emerging substitutes to genetic testing?
Seminars in diagnostic pathologySurgical approaches in hereditary endocrine tumors.
Updates in surgeryMAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.
Transactions of the American Clinical and Climatological AssociationPrimary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis.
Clujul medical (1957)[CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases].
Terapevticheskii arkhivGCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
American journal of human geneticsRecurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome.
International journal of endocrinology and metabolismCDC73 gene mutations in sporadic ossifying fibroma of the jaws.
Diagnostic pathologyHyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia.
The American journal of the medical sciencesJaw tumor in primary hyperparathyroidism is not always a brown tumor.
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesUpdate on parathyroid carcinoma.
Journal of endocrinological investigationPrimary hyperparathyroidism in a patient with primary aldosteronism.
BMC research notesHRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsEarly-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.
Endocrine journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.
- Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.
- Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.
- Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.
- Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.
- Diagnostic Dilemma Involving a Rare Case of a CDC73 Parafibromin-Deficient Parathyroid Adenoma.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99880(Orphanet)
- OMIM OMIM:145001(OMIM)
- MONDO:0007768(MONDO)
- GARD:10829(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q9390545(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
