Hyperparathyroidism 2 with jaw tumors

Preferred Label : Hyperparathyroidism 2 with jaw tumors;

Symbol : HRPT2;

CISMeF acronym : HPT-JT; HRPT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas; Hyperparathyroidism-jaw tumor syndrome, hereditary; HPT-JT;

Included titles and symbols : Parathyroid adenomatosis, familial cystic;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cell division cycle 73 gene (CDC73, 607393.0001);

Neoplasia : Parathyroid carcinomas; Wilms tumor; Pancreatic adenocarcinoma; Renal cortical adenoma; Papillary renal cell carcinoma; Hurthle cell thyroid adenoma;

Laboratory abnormalities : Hypercalcemia;

Prefixed ID : #145001;

Details

Origin ID

145001;

UMLS CUI

C1704981;

Automatic exact mappings (from CISMeF team)
- CDC73 wt Allele [NCIt concept]
- Parafibromin [NCIt concept]
- parathyroid adenomatosis, familial cystic [MeSH concept]
- parathyroid adenomatosis, familial cystic [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hyperparathyroidism - jaw tumour syndrome [ICD-11 More detail]
- Hyperparathyroidism-Jaw Tumor Syndrome [NCIt concept]
- Hyperparathyroidism-jaw tumor syndrome [ORDO Disease]
- Hyperparathyroidism-jaw tumor syndrome (disorder) [SNOMED CT concept]
- hyperparathyroidism 2 [MeSH concept]
- hyperparathyroidism 2 [MeSH Supplementary Concept]
- hyperparathyroidism jaw tumor syndrome [Disease (Nov.)]
DO Cross reference
- hyperparathyroidism [DO Concept]
Genes related to phenotype
- Cell division cycle 73 [OMIM gene]
HPO term(s)
- Abnormality of the head [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hamartoma [HPO term]
- Hurthle cell thyroid adenoma [HPO term]
- Hypercalcemia [HPO term]
- Hyperparathyroidism [HPO term]
- Nephroblastoma [HPO term]
- Nephrolithiasis [HPO term]
- Pancreatic adenocarcinoma [HPO term]
- Papillary renal cell carcinoma [HPO term]
- Parathyroid adenoma [HPO term]
- Parathyroid carcinoma [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Recurrent pancreatitis [HPO term]
- Renal cortical adenoma [HPO term]
- Solitary parathyroid adenomas [HPO term]
ORDO concept(s)
- Hyperparathyroidism-jaw tumor syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperparathyroidism-Jaw Tumor Syndrome [NCIt concept]
- Hyperparathyroidism-jaw tumor syndrome [ORDO Disease]
- Hyperparathyroidism-jaw tumor syndrome [MedDRA LLT]
- Hyperparathyroidism-jaw tumor syndrome (disorder) [SNOMED CT concept]
- Hyperparathyroidism-jaw tumour syndrome [MedDRA LLT]
- hyperparathyroidism 2 [MeSH Supplementary Concept]
- hyperparathyroidism 2 [MeSH concept]
- hyperparathyroidism jaw tumor syndrome [Disease (Nov.)]

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