PedAM

Pediatric Disease Annotations & Medicines


	parathyroid adenoma

Disease ID	1470
Disease	parathyroid adenoma
Definition	A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.
Synonym	adenoma of parathyroid adenoma of parathyroid gland adenoma of the parathyroid adenoma of the parathyroid gland adenoma parathyroid adenoma, parathyroid adenomas parathyroid adenomas, parathyroid parathyroid adenoma (disorder) parathyroid adenomas parathyroid gland adenoma
DOID	DOID:7608
UMLS	C0262587
SNOMED-CT	SNOMEDCT_US_2016_09_01:128474007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:42) C0020502 \| hyperparathyroidism \| 65 C0221002 \| primary hyperparathyroidism \| 55 C0020437 \| hypercalcemia \| 6 C0030305 \| pancreatitis \| 4 C0020437 \| hypercalcaemia \| 3 C0018023 \| nodular goiter \| 3 C0549473 \| thyroid carcinoma \| 3 C0007115 \| thyroid ca \| 3 C0040100 \| thymoma \| 3 C0018021 \| goiter \| 2 C0040127 \| thyroid crisis \| 2 C0238463 \| papillary thyroid carcinoma \| 2 C0020503 \| secondary hyperparathyroidism \| 2 C0392525 \| nephrolithiasis \| 1 C0018021 \| goitre \| 1 C0018213 \| graves' disease \| 1 C0032914 \| preeclampsia \| 1 C0342637 \| familial hypocalciuric hypercalcaemia \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0027809 \| schwannoma \| 1 C0687150 \| parathyroid carcinoma \| 1 C0027697 \| nephritis \| 1 C0025286 \| meningiomas \| 1 C0030489 \| paraproteinemia \| 1 C0027707 \| interstitial nephritis \| 1 C1266091 \| spindle cell thymoma \| 1 C0342208 \| multinodular goiter \| 1 C0006666 \| calciphylaxis \| 1 C0024299 \| lymphoma \| 1 C0677607 \| chronic lymphocytic thyroiditis \| 1 C0677607 \| lymphocytic thyroiditis \| 1 C0001339 \| acute pancreatitis \| 1 C1302772 \| primary cutaneous lymphoma \| 1 C0040053 \| thrombosis \| 1 C0020550 \| hyperthyroidism \| 1 C0149521 \| recurrent pancreatitis \| 1 C0346010 \| birt-hogg-dube syndrome \| 1 C0007570 \| coeliac disease \| 1 C0159069 \| impaired glucose tolerance \| 1 C1276146 \| cutaneous lymphoma \| 1 C0024299 \| lymphomas \| 1 C0341858 \| adenomyosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CDC73 \| 79577 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:80) 7544 \| ZFY \| DISEASES 55808 \| ST6GALNAC1 \| DISEASES 5837 \| PYGM \| DISEASES 1113 \| CHGA \| DISEASES 7038 \| TG \| DISEASES 8767 \| RIPK2 \| DISEASES 5539 \| PPY \| DISEASES 595 \| CCND1 \| DISEASES 8050 \| PDHX \| DISEASES 1027 \| CDKN1B \| DISEASES 2691 \| GHRH \| DISEASES 5326 \| PLAGL2 \| DISEASES 22933 \| SIRT2 \| DISEASES 8773 \| SNAP23 \| DISEASES 3727 \| JUND \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 3958 \| LGALS3 \| DISEASES 3364 \| HUS1 \| DISEASES 27141 \| CIDEB \| DISEASES 10010 \| TANK \| DISEASES 570 \| BAAT \| DISEASES 9568 \| GABBR2 \| DISEASES 6857 \| SYT1 \| DISEASES 7188 \| TRAF5 \| DISEASES 51283 \| BFAR \| DISEASES 9618 \| TRAF4 \| DISEASES 2201 \| FBN2 \| DISEASES 1031 \| CDKN2C \| DISEASES 6855 \| SYP \| DISEASES 1175 \| AP2S1 \| DISEASES 56302 \| TRPV5 \| DISEASES 57689 \| LRRC4C \| DISEASES 5741 \| PTH \| DISEASES 3773 \| KCNJ16 \| DISEASES 7345 \| UCHL1 \| DISEASES 6750 \| SST \| DISEASES 5130 \| PCYT1A \| DISEASES 213 \| ALB \| DISEASES 84818 \| IL17RC \| DISEASES 84798 \| C19orf48 \| DISEASES 5617 \| PRL \| DISEASES 7543 \| ZFX \| DISEASES 8507 \| ENC1 \| DISEASES 3090 \| HIC1 \| DISEASES 666 \| BOK \| DISEASES 64755 \| C16orf58 \| DISEASES 8490 \| RGS5 \| DISEASES 2146 \| EZH2 \| DISEASES 1149 \| CIDEA \| DISEASES 706 \| TSPO \| DISEASES 2520 \| GAST \| DISEASES 796 \| CALCA \| DISEASES 1032 \| CDKN2D \| DISEASES 4221 \| MEN1 \| DISEASES 3185 \| HNRNPF \| DISEASES 23583 \| SMUG1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 5979 \| RET \| DISEASES 80228 \| ORAI2 \| DISEASES 5789 \| PTPRD \| DISEASES 4763 \| NF1 \| DISEASES 7432 \| VIP \| DISEASES 79577 \| CDC73 \| DISEASES 55811 \| ADCY10 \| DISEASES 632 \| BGLAP \| DISEASES 51205 \| ACP6 \| DISEASES 1081 \| CGA \| DISEASES 139135 \| PASD1 \| DISEASES 6658 \| SOX3 \| DISEASES 5230 \| PGK1 \| DISEASES 54836 \| BSPRY \| DISEASES 2550 \| GABBR1 \| DISEASES 1114 \| CHGB \| DISEASES 9247 \| GCM2 \| DISEASES 5744 \| PTHLH \| DISEASES 57448 \| BIRC6 \| DISEASES 374308 \| PTCHD3 \| DISEASES 846 \| CASR \| DISEASES 6230 \| RPS25 \| DISEASES 7421 \| VDR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1470
Disease	parathyroid adenoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:37) HP:0000843 \| Hyperparathyroidism \| 65 HP:0008200 \| Primary hyperparathyroidism \| 55 HP:0003072 \| Hypercalcemia \| 9 HP:0002664 \| Neoplasia \| 5 HP:0001733 \| Pancreatic inflammation \| 4 HP:0030731 \| Carcinoma \| 3 HP:0002835 \| Aspiration \| 3 HP:0005994 \| Nodular goiter \| 3 HP:0002890 \| Thyroid carcinoma \| 3 HP:0000853 \| Goitre \| 3 HP:0100522 \| Thymoma \| 3 HP:0002895 \| Papillary thyroid carcinoma \| 2 HP:0011782 \| Thyroid crisis \| 2 HP:0000867 \| Secondary hyperparathyroidism \| 2 HP:0003472 \| Hypocalcemic tetany \| 1 HP:0100027 \| Recurring pancreatitis \| 1 HP:0001289 \| Confusion \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0000123 \| Nephritis \| 1 HP:0000787 \| Renal calculi \| 1 HP:0012215 \| Testicular microlithiasis \| 1 HP:0002665 \| Lymphoma \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0001970 \| Interstitial nephritis \| 1 HP:0000833 \| Glucose intolerance \| 1 HP:0005987 \| Multinodular goiter \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0011780 \| Thyroid hemiagenesis \| 1 HP:0002757 \| Multiple fractures \| 1 HP:0011769 \| Ectopic parathyroid \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0006780 \| Parathyroid Cancer \| 1 HP:0100735 \| Hypertensive crisis \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0100602 \| Pre-eclampsia \| 1

Disease ID	1470
Disease	parathyroid adenoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:11) C0020502 \| hyperparathyroidism \| 65 C0221002 \| primary hyperparathyroidism \| 55 C0020437 \| hypercalcemia \| 6 C0030305 \| pancreatitis \| 4 C0019080 \| hemorrhage \| 3 C0238463 \| papillary thyroid carcinoma \| 2 C0029400 \| osteitis \| 1 C1262091 \| lymphocytic infiltration \| 1 C0149521 \| recurrent pancreatitis \| 1 C0020550 \| hyperthyroidism \| 1 C0021308 \| infarction \| 1

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs374453691	25387265	158471	PRUNE2	umls:C0262587	BeFree	PRUNE2 showed recurrent mutations in 18% (4/22) of PCs with additional screening in 40 PAs revealing only one rare missense polymorphism (Asp1677Asn).	0.000271442	2015	PRUNE2	9	76707245	C	T

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)
(Waiting for update.)

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