PedAM

Pediatric Disease Annotations & Medicines


	parathyroid carcinoma

Disease ID	205
Disease	parathyroid carcinoma
Definition	A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion.
Synonym	adenocarcinoma of parathyroid adenocarcinoma of parathyroid gland adenocarcinoma of the parathyroid adenocarcinoma of the parathyroid gland cancer of parathyroid cancer of parathyroid gland cancer of the parathyroid cancer of the parathyroid gland cancer, parathyroid cancers, parathyroid carcinoma of parathyroid carcinoma of parathyroid gland carcinoma of the parathyroid carcinoma of the parathyroid gland carcinoma parathyroid carcinoma, parathyroid carcinomas, parathyroid parathyroid adenocarcinoma parathyroid cancer, adenocarcinoma parathyroid cancer, nos parathyroid cancers parathyroid carcinoma (disorder) parathyroid carcinomas parathyroid gland adenocarcinoma parathyroid gland cancer parathyroid gland carcinoma parathyroid, adenocarcinoma parathyroid, carcinoma prtc
Orphanet	ORPHANET:143
OMIM	OMIM:608266
DOID	DOID:1540
UMLS	C0687150
SNOMED-CT	SNOMEDCT_US_2016_09_01:255037004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0221002 \| primary hyperparathyroidism \| 8 C0020502 \| hyperparathyroidism \| 5 C0020437 \| hypercalcemia \| 4 C0020437 \| hypercalcaemia \| 2 C0153676 \| lung metastases \| 1 C0494165 \| liver metastasis \| 1 C0151468 \| thyroid adenoma \| 1 C0153676 \| lung metastasis \| 1 C0262587 \| parathyroid adenoma \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0020503 \| secondary hyperparathyroidism \| 1 C0040127 \| thyroid crisis \| 1 C0027662 \| multiple endocrine neoplasia \| 1 C0025267 \| multiple endocrine neoplasia type 1 \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CDC73 \| 79577 \| CLINVAR;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 771 \| CA12 \| DISEASES 8839 \| WISP2 \| DISEASES 1113 \| CHGA \| DISEASES 7038 \| TG \| DISEASES 595 \| CCND1 \| DISEASES 2735 \| GLI1 \| DISEASES 1027 \| CDKN1B \| DISEASES 7167 \| TPI1 \| DISEASES 8773 \| SNAP23 \| DISEASES 8840 \| WISP1 \| DISEASES 8431 \| NR0B2 \| DISEASES 3958 \| LGALS3 \| DISEASES 1031 \| CDKN2C \| DISEASES 6855 \| SYP \| DISEASES 80349 \| WDR61 \| DISEASES 7157 \| TP53 \| DISEASES 5741 \| PTH \| DISEASES 3773 \| KCNJ16 \| DISEASES 7345 \| UCHL1 \| DISEASES 5130 \| PCYT1A \| DISEASES 4041 \| LRP5 \| DISEASES 89927 \| C16orf45 \| DISEASES 7543 \| ZFX \| DISEASES 10007 \| GNPDA1 \| DISEASES 3090 \| HIC1 \| DISEASES 2146 \| EZH2 \| DISEASES 84260 \| TCHP \| DISEASES 9810 \| RNF40 \| DISEASES 796 \| CALCA \| DISEASES 1937 \| EEF1G \| DISEASES 10732 \| TCFL5 \| DISEASES 4221 \| MEN1 \| DISEASES 23583 \| SMUG1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 9218 \| VAPA \| DISEASES 9967 \| THRAP3 \| DISEASES 5979 \| RET \| DISEASES 344892 \| RTP2 \| DISEASES 7516 \| XRCC2 \| DISEASES 9851 \| KIAA0753 \| DISEASES 8707 \| B3GALT2 \| DISEASES 79577 \| CDC73 \| DISEASES 51022 \| GLRX2 \| DISEASES 6738 \| TROVE2 \| DISEASES 51377 \| UCHL5 \| DISEASES 4720 \| NDUFS2 \| DISEASES 4288 \| MKI67 \| DISEASES 3738 \| KCNA3 \| DISEASES 6839 \| SUV39H1 \| DISEASES 158471 \| PRUNE2 \| DISEASES 9247 \| GCM2 \| DISEASES 675 \| BRCA2 \| DISEASES 56254 \| RNF20 \| DISEASES 5744 \| PTHLH \| DISEASES 6611 \| SMS \| DISEASES 57448 \| BIRC6 \| DISEASES 374308 \| PTCHD3 \| DISEASES 846 \| CASR \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CDC73 \| 1q31.2

Disease ID	205
Disease	parathyroid carcinoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:37) HP:0000787 \| Nephrolithiasis HP:0001824 \| Weight loss HP:0001324 \| Muscle weakness HP:0002015 \| Dysphagia HP:0002019 \| Constipation HP:0002148 \| Hypophosphatemia HP:0000934 \| Chondrocalcinosis HP:0002667 \| Nephroblastoma HP:0006725 \| Pancreatic adenocarcinoma HP:0003165 \| Elevated circulating parathyroid hormone level HP:0000121 \| Nephrocalcinosis HP:0012032 \| Lipoma HP:0002150 \| Hypercalciuria HP:0002315 \| Headache HP:0000083 \| Renal insufficiency HP:0000107 \| Renal cyst HP:0008250 \| Infantile hypercalcemia HP:0002574 \| Episodic abdominal pain HP:0000939 \| Osteoporosis HP:0002890 \| Thyroid carcinoma HP:0012378 \| Fatigue HP:0008696 \| Renal hamartoma HP:0000131 \| Uterine leiomyoma HP:0003072 \| Hypercalcemia HP:0001733 \| Pancreatitis HP:0002017 \| Nausea and vomiting HP:0011766 \| Abnormality of the parathyroid morphology HP:0001609 \| Hoarse voice HP:0006780 \| Parathyroid carcinoma HP:0008200 \| Primary hyperparathyroidism HP:0012232 \| Shortened QT interval HP:0002653 \| Bone pain HP:0004398 \| Peptic ulcer HP:0010788 \| Testicular neoplasm HP:0001959 \| Polydipsia HP:0200025 \| Mandibular pain HP:0010614 \| Fibroma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0008200 \| Primary hyperparathyroidism \| 8 HP:0003072 \| Hypercalcemia \| 6 HP:0000843 \| Hyperparathyroidism \| 5 HP:0002664 \| Neoplasia \| 4 HP:0100568 \| Endocrine neoplasia \| 1 HP:0002835 \| Aspiration \| 1 HP:0008249 \| Large thyroid \| 1 HP:0002897 \| Parathyroid adenoma \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0000867 \| Secondary hyperparathyroidism \| 1 HP:0011782 \| Thyroid crisis \| 1 HP:0000854 \| Thyroid adenoma \| 1 HP:0008208 \| Parathyroid hyperplasia \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1

Disease ID	205
Disease	parathyroid carcinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C1550639 \| fistula C0686619 \| lymph node metastases C0555278 \| cerebral metastasis C0221002 \| primary hyperparathyroidism C0220650 \| brain metastasis C0153690 \| bone metastases C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases C0040127 \| thyroid crisis C0022661 \| chronic renal failure C0020503 \| secondary hyperparathyroidism C0020502 \| hyperparathyroidism C0020437 \| hypercalcemia C0020437 \| hypercalcaemia C0019080 \| hemorrhage
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0221002 \| primary hyperparathyroidism \| 8 C0020502 \| hyperparathyroidism \| 5 C0020437 \| hypercalcemia \| 4 C0020437 \| hypercalcaemia \| 2 C0020503 \| secondary hyperparathyroidism \| 1 C0040127 \| thyroid crisis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042636	22166946	846	CASR	umls:C0687150	BeFree	Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma.	0.001085767	2012	CASR	3	122284922	A	G
rs121434263	NA	79577	CDC73	umls:C0687150	CLINVAR	NA	0.2551248	NA	CDC73;LOC101929160	1	193122328	G	A
rs121434265	NA	79577	CDC73	umls:C0687150	CLINVAR	NA	0.2551248	NA	CDC73;LOC101929160	1	193125142	C	G
rs587776560	NA	79577	CDC73	umls:C0687150	CLINVAR	NA	0.2551248	NA	CDC73;LOC101929160	1	193122285	G	-
rs587776561	NA	79577	CDC73	umls:C0687150	CLINVAR	NA	0.2551248	NA	CDC73;LOC101929160	1	193122213	CTTAGCGTCCTGCGACAG	-
rs80356649	NA	79577	CDC73	umls:C0687150	CLINVAR	NA	0.2551248	NA	CDC73	1	193142016	-	AG
rs80356650	NA	79577	CDC73	umls:C0687150	CLINVAR	NA	0.2551248	NA	CDC73	1	193147903	GT	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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