MCID: CDC001
MIFTS: 10

Cdc73-Related Disorders

Aliases & Classifications for Cdc73-Related Disorders

MalaCards integrated aliases for Cdc73-Related Disorders:

Name: Cdc73-Related Disorders 25 29

Characteristics:

GeneReviews:

25
Penetrance While the penetrance in hpt-jt syndrome is estimated at 80%-90%, lower penetrance in females has been reported in two families [teh et al 1996] and was closer to 70% in two different studies [bradley et al 2005, iacobone et al 2009]. the overall age-related penetrance in a dutch population was estimated to be 11% at age 25, 65% at age 50, and 83% at age 70 [van der tuin et al 2017].

Summaries for Cdc73-Related Disorders

MalaCards based summary : Cdc73-Related Disorders is related to parathyroid carcinoma and primary hyperparathyroidism. An important gene associated with Cdc73-Related Disorders is CDC73 (Cell Division Cycle 73).

GeneReviews: NBK3789

Related Diseases for Cdc73-Related Disorders

Diseases related to Cdc73-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parathyroid carcinoma 10.2
2 primary hyperparathyroidism 10.2
3 hyperparathyroidism 10.2
4 parathyroid adenoma 10.2
5 hyperparathyroidism 1 10.0
6 fibroma 10.0
7 hypoparathyroidism 10.0
8 ossifying fibroma 10.0
9 adenoma 10.0

Graphical network of the top 20 diseases related to Cdc73-Related Disorders:



Diseases related to Cdc73-Related Disorders

Symptoms & Phenotypes for Cdc73-Related Disorders

Drugs & Therapeutics for Cdc73-Related Disorders

Search Clinical Trials , NIH Clinical Center for Cdc73-Related Disorders

Genetic Tests for Cdc73-Related Disorders

Genetic tests related to Cdc73-Related Disorders:

# Genetic test Affiliating Genes
1 Cdc73-Related Disorders 29

Anatomical Context for Cdc73-Related Disorders

Publications for Cdc73-Related Disorders

Articles related to Cdc73-Related Disorders:

(show top 50) (show all 67)
# Title Authors PMID Year
1
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. 25 61
29040582 2017
2
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. 25
28881068 2017
3
CDC73 gene mutations in sporadic ossifying fibroma of the jaws. 25
27658992 2016
4
Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report. 25
27507909 2016
5
Parathyroid Cancer in the Pediatric Patient. 25
26650250 2016
6
Hyperparathyroidism-jaw tumor syndrome: Results of operative management. 25
25444225 2014
7
Negative parafibromin staining predicts malignant behavior in atypical parathyroid adenomas. 25
24081804 2014
8
Ossifying fibroma of the jaws: a clinicopathological case series study. 25
24474366 2013
9
Hyperparathyroidism-jaw tumor syndrome. 25
22302605 2013
10
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. 25
23293331 2013
11
CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer. 25
24145611 2013
12
Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. 25
22187299 2012
13
Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism. 25
21790700 2012
14
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors. 25
21732217 2011
15
Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family. 25
21837707 2011
16
CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum. 25
21652691 2011
17
Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk. 25
21324824 2011
18
Nontruncated amino-terminal parathyroid hormone overproduction in two patients with parathyroid carcinoma: a possible link to HRPT2 gene inactivation. 25
21521290 2011
19
Clinical utilization of cinacalcet in hypercalcemic conditions. 25
21361849 2011
20
Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses. 25
21360064 2011
21
[Clinical and molecular genetic analyses for a sporadic parathyroid carcinoma]. 25
20979880 2010
22
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. 25
20304979 2010
23
Hyperparathyroidism-jaw tumor syndrome: a case report. 25
19942209 2010
24
The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression. 25
19906718 2010
25
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. 25
19529956 2009
26
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 25
18987311 2008
27
Central ossifying fibroma: a clinicopathologic study of 28 cases. 25
18445542 2008
28
Nucleolar localization of parafibromin is mediated by three nucleolar localization signals. 25
17923126 2007
29
Cinacalcet hydrochloride reduces the serum calcium concentration in inoperable parathyroid carcinoma. 25
17666472 2007
30
Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. 25
17555500 2007
31
Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification. 25
17639063 2007
32
Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma? 25
17468190 2007
33
Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. 25
17130827 2007
34
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. 25
16931959 2006
35
HRPT2 gene alterations in ossifying fibroma of the jaws. 25
16458039 2006
36
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. 25
16720667 2006
37
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. 25
16817812 2006
38
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 25
16487440 2006
39
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. 25
16525030 2006
40
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. 25
16448924 2006
41
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. 25
16430712 2006
42
HRPT2 mutational analysis of typical sporadic parathyroid adenomas. 25
15956079 2005
43
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. 25
15580289 2005
44
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. 25
15606373 2005
45
The parafibromin tumor suppressor protein is part of a human Paf1 complex. 25
15632063 2005
46
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. 25
15579037 2004
47
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. 25
15531515 2004
48
Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. 25
15475453 2004
49
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. 25
15070940 2004
50
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). 25
14985403 2004

Variations for Cdc73-Related Disorders

Expression for Cdc73-Related Disorders

Search GEO for disease gene expression data for Cdc73-Related Disorders.

Pathways for Cdc73-Related Disorders

GO Terms for Cdc73-Related Disorders

Sources for Cdc73-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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