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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Endocrine Gland Neoplasms (D004701)
Parent Node: Head and Neck Neoplasms (D006258)
Parent Node: Parathyroid Diseases (D010279)
..Starting node ..Parathyroid Neoplasms (D010282)
Child Nodes:
........Parathyroid cancer, adult (C537173)
Sister Nodes:
..Hyperparathyroidism (D006961) 12
..Hypoparathyroidism (D007011) 14
..Parathyroid Neoplasms (D010282) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8637

Name:

Parathyroid Neoplasms

Definition:

Tumors or cancer of the PARATHYROID GLANDS.

Alternative IDs:

OMIM:608266

ParentIDs:

MESH:D004701|MESH:D006258|MESH:D010279

TreeNumbers:

C04.588.322.525 |C04.588.443.680 |C19.344.525 |C19.642.713

Synonyms:

Slim Mappings:

Cancer|Endocrine system disease

Reference:

MedGen: D010282
MeSH: D010282
OMIM: 608266;

Genes: CDC73;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003072	Hypercalcemia
3	HP:0000843	Hyperparathyroidism
4	HP:0006780	Parathyroid carcinoma
5	HP:0001428	Somatic mutation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_024529.4(CDC73):c.-11G>A	79577	CDC73	Benign	80356643	RCV000020878;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193091320	193091320	NM_024529.4:c.-11G>A		NC_000001.10:g.193091320G>A	-	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.13_30del18 (p.Leu5_Gln10del)	79577	CDC73	Pathogenic	587776561	RCV000003442;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193091343	193091360	NM_024529.4:c.13_30del18	NP_078805.3:p.Leu5_Gln10del		OMIM Allelic Variant:607393.0015	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.85delG (p.Glu29Serfs)	79577	CDC73	Pathogenic	587776560	RCV000003441;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193091415	193091415	NM_024529.4:c.85delG	NP_078805.3:p.Glu29Serfs		OMIM Allelic Variant:607393.0014	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.128G>A (p.Trp43Ter)	79577	CDC73	Pathogenic	121434263	RCV000003430;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193091458	193091458	NM_024529.4:c.128G>A	NP_078805.3:p.Trp43Ter	NC_000001.10:g.193091458G>A	OMIM Allelic Variant:607393.0005	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.162C>G (p.Tyr54Ter)	79577	CDC73	Pathogenic	121434265	RCV000003433;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193094272	193094272	NM_024529.4:c.162C>G	NP_078805.3:p.Tyr54Ter	NC_000001.10:g.193094272C>G	OMIM Allelic Variant:607393.0008	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.237+28T=	79577	CDC73	Benign	4466634	RCV000020881;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193094375	193094375	NM_024529.4:c.237+28T=		NC_000001.10:g.193094375Tx3d	-	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.237+28_237+31delTCTA	79577	CDC73	Benign	80356645	RCV000020882;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193094375	193094378	NM_024529.4:c.237+28_237+31delTCTA		NC_000001.10:g.193094375_193094378delTCTA	-	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.679_680insAG (p.Arg227Lysfs)	79577	CDC73	Pathogenic	80356649	RCV000003427; RCV000003428; RCV000003429;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004; MedGen:C1704981,OMIM:145001,ORPHA:99880; MedGen:C1840402,OMIM:145000	1	193111146	193111147	NM_024529.4:c.679_680insAG	NP_078805.3:p.Arg227Lysfs	NC_000001.10:g.193111146_193111147insAG	OMIM Allelic Variant:607393.0004	C1840402 145000 Hyperparathyroidism 1; C1704981 145001 Hyperparathyroidism 2; C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.729+50_729+51delAG	79577	CDC73	Benign	80356646	RCV000020884;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193111246	193111247	NM_024529.4:c.729+50_729+51delAG		NC_000001.10:g.193111246_193111247delAG	-	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.766_767delGT (p.Val256Lysfs)	79577	CDC73	Pathogenic	80356650	RCV000020885;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193117033	193117034	NM_024529.4:c.766_767delGT	NP_078805.3:p.Val256Lysfs	NC_000001.10:g.193117033_193117034delGT	-	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.1066+8T>C	79577	CDC73	Benign;Likely benign	80356647	RCV000211486; RCV000020879;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004; MedGen:C1704981,OMIM:145001,ORPHA:99880	1	193181238	193181238	NM_024529.4:c.1066+8T>C		NC_000001.10:g.193181238T>C	-	C1704981 145001 Hyperparathyroidism 2; C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.1418-17C>G	79577	CDC73	Benign	11583414	RCV000020880;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193218843	193218843	NM_024529.4:c.1418-17C>G		NC_000001.10:g.193218843C>G	-	C0687150 608266 Parathyroid carcinoma
NM_024529.4(CDC73):c.*12C>A	79577	CDC73	Likely benign	193025205	RCV000206613;	N	MedGen:C0687150,OMIM:608266,ORPHA:143,SNOMED CT:255037004	1	193219854	193219854	NM_024529.4:c.*12C>A		NC_000001.10:g.193219854C>A	-	C0687150 608266 Parathyroid carcinoma