HRPT2
MCID: HYP741
MIFTS: 51

Hyperparathyroidism 2 with Jaw Tumors (HRPT2)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Hyperparathyroidism 2 with Jaw Tumors

MalaCards integrated aliases for Hyperparathyroidism 2 with Jaw Tumors:

Name: Hyperparathyroidism 2 with Jaw Tumors 57 73 28 5
Hyperparathyroidism-Jaw Tumor Syndrome 57 19 42 58 73 12 71
Hpt-Jt 57 19 42 58 73
Hrpt2 57 19 73 53 75
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 19 42 73
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 19 42
Parathyroid Adenoma with Cystic Changes 57 28
Hyperparathyroidism 2 19 42
Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas 57
Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary 57
Hyperparathyroidism-Jaw Tumor Syndrome, Type 2 38
Parathyroid Adenomatosis, Familial Cystic 71
Familial Cystic Parathyroid Adenomatosis 42

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Hyperparathyroidism-Jaw Tumor Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hyperparathyroidism-Jaw Tumor Syndrome: Adolescent,Adult 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases


Summaries for Hyperparathyroidism 2 with Jaw Tumors

MedlinePlus Genetics: 42 Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. The tumors are usually noncancerous (benign), in which case they are called adenomas. Approximately 15 percent of people with hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called parathyroid carcinoma. People with hyperparathyroidism-jaw tumor syndrome may also have a type of benign tumor called a fibroma in the jaw. Even though jaw tumors are specified in the name of this condition, it is estimated that only 25 to 50 percent of affected individuals have this symptom.Other tumors, both benign and cancerous, are often seen in hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur in about 75 percent of women with this condition. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign kidney cysts are the most common kidney feature, but a rare tumor called Wilms tumor and other types of kidney tumor have also been found.

MalaCards based summary: Hyperparathyroidism 2 with Jaw Tumors, also known as hyperparathyroidism-jaw tumor syndrome, is related to hyperparathyroidism 1 and hyperparathyroidism. An important gene associated with Hyperparathyroidism 2 with Jaw Tumors is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways are Signal Transduction and Development of ureteric collection system. Affiliated tissues include kidney, thyroid and uterus, and related phenotypes are parathyroid adenoma and primary hyperparathyroidism

GARD: 19 Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an inherited condition that causes overactivity of the parathyroid glands (hyperparathyroidism). These glands regulate the body's use of calcium, so overactivity can lead to high calcium levels in the blood (hypercalcemia). The syndrome typically begins in late adolescence or early adulthood. The hyperparathyroidism in people with HPT-JT is usually caused by a benign tumor in the parathyroid gland called a parathyroid adenoma. In some people with HPT-JT, it is caused by a cancerous (malignant) tumor called a parathyroid carcinoma. Signs and symptoms of hyperparathyroidism may include kidney stones, reduced bone mass, fatigue, muscle weakness, bone or joint pain, and constipation. Some people with HPT-JT also develop a benign tumor in the jaw called an ossifying fibroma. These tumors can grow quickly if not treated. Other features of HPT-JT may include kidney growths such as cysts, hamartomas, or rarely, Wilms tumor. Women with HPT-JT may develop benign or malignant tumors in the uterus. HPT-JT is caused by genetic changes in the CDC73 gene and inheritance is autosomal dominant. The diagnosis is based on the presence of signs and symptoms (identified with blood tests for hyperparathyroidism and imaging studies for tumors) and genetic testing.

OMIM®: 57 Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015). For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (145000). (145001) (Updated 08-Dec-2022)

Orphanet: 58 A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.

UniProtKB/Swiss-Prot: 73 An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer.

Related Diseases for Hyperparathyroidism 2 with Jaw Tumors

Diseases related to Hyperparathyroidism 2 with Jaw Tumors via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 31.8 MEN1 CDC73
2 hyperparathyroidism 30.4 RET MEN1 CDC73 CASR
3 osteitis fibrosa 30.3 CDC73 CASR
4 ossifying fibroma 30.2 MEN1 CDC73
5 inherited cancer-predisposing syndrome 30.1 RET MEN1 CDC73
6 bap1 tumor predisposition syndrome 30.1 RET MEN1 CDC73
7 primary hyperparathyroidism 30.0 RET MEN1 CDC73 CASR
8 multiple endocrine neoplasia 30.0 RET MEN1 CDC73
9 secondary hyperparathyroidism 30.0 MEN1 CASR
10 multiple endocrine neoplasia, type i 29.8 RET MEN1 CDC73 CASR
11 multiple endocrine neoplasia, type iia 29.8 RET MEN1 CDC73
12 hypoparathyroidism 29.8 RET CASR
13 parathyroid carcinoma 29.6 RET MEN1 CDC73 CCND1 CASR
14 adenoma 29.4 RET MEN1 CDC73 CCND1 CASR
15 familial hypocalciuric hypercalcemia 29.3 RET MEN1 CDC73 CASR
16 parathyroid gland disease 29.3 RET MEN1 CDC73 CASR
17 parathyroid adenoma 29.2 RET MEN1 CDC73 CCND1 CASR
18 cdc73-related disorders 10.5
19 nephrolithiasis, calcium oxalate 10.2
20 bone inflammation disease 10.2
21 nephrolithiasis 10.2
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
23 fibroma 10.2
24 infertility 10.1
25 osteofibrous dysplasia 10.1
26 testicular germ cell tumor 10.1
27 ataxia with vitamin e deficiency 10.1
28 adenomyosis 10.1
29 renal cell carcinoma, papillary, 1 10.1
30 endometrial hyperplasia 10.1
31 leiomyoma 10.1
32 bone cancer 10.1
33 mixed germ cell cancer 10.1
34 pancreatic adenocarcinoma 10.1
35 seminoma 10.1
36 ovarian cyst 10.1
37 germ cell tumor 10.1
38 thyroid carcinoma 10.1
39 hypocalciuric hypercalcemia, familial, type iii 10.0 CDC73 CASR
40 wilms tumor 1 10.0
41 wilms tumor 5 10.0
42 epiphysiolysis of the hip 10.0
43 multiple mucosal neuroma 10.0 RET MEN1
44 skin lipoma 10.0 RET MEN1
45 sublingual gland cancer 10.0 RET MEN1
46 gastrinoma 10.0 MEN1 CASR
47 multiple endocrine neoplasia, type iib 9.9 RET MEN1
48 paraganglioma and gastric stromal sarcoma 9.9 RET MEN1
49 thyroid gland medullary carcinoma 9.9 RET MEN1
50 islet cell tumor 9.9 RET MEN1

Graphical network of the top 20 diseases related to Hyperparathyroidism 2 with Jaw Tumors:



Diseases related to Hyperparathyroidism 2 with Jaw Tumors

Symptoms & Phenotypes for Hyperparathyroidism 2 with Jaw Tumors

Human phenotypes related to Hyperparathyroidism 2 with Jaw Tumors:

58 30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid adenoma 58 30 Obligate (100%) Obligate (100%)
HP:0002897
2 primary hyperparathyroidism 58 30 Obligate (100%) Obligate (100%)
HP:0008200
3 hypophosphatemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002148
4 hypercalciuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002150
5 elevated circulating parathyroid hormone level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003165
6 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
7 polydipsia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001959
8 fatigue 58 30 Frequent (33%) Frequent (79-30%)
HP:0012378
9 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
10 nephrolithiasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000787
11 nephrocalcinosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000121
12 fibroma 58 30 Frequent (33%) Frequent (79-30%)
HP:0010614
13 uterine leiomyoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000131
14 infantile hypercalcemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008250
15 shortened qt interval 58 30 Frequent (33%) Frequent (79-30%)
HP:0012232
16 nausea and vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002017
17 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
18 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001324
19 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
20 peptic ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004398
21 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
22 bone pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002653
23 chondrocalcinosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000934
24 renal cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000107
25 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
26 episodic abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002574
27 renal hamartoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008696
28 mandibular pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200025
29 pancreatic adenocarcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0006725
30 lipoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012032
31 nephroblastoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002667
32 thyroid carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002890
33 testicular neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010788
34 hypercalcemia 58 30 Obligate (100%)
HP:0003072
35 hyperparathyroidism 30 HP:0000843
36 polycystic kidney dysplasia 30 HP:0000113
37 hamartoma 30 HP:0010566
38 parathyroid carcinoma 30 HP:0006780
39 abnormality of the parathyroid morphology 58 Very frequent (99-80%)
40 abnormality of the head 30 HP:0000234
41 papillary renal cell carcinoma 30 HP:0006766
42 renal cortical adenoma 30 HP:0006735
43 recurrent pancreatitis 30 HP:0100027
44 hurthle cell thyroid adenoma 30 HP:0006781

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
hyperparathyroidism
solitary parathyroid adenomas (rarely multiple)

Neoplasia:
pancreatic adenocarcinoma
papillary renal cell carcinoma
renal cortical adenoma
hurthle cell thyroid adenoma
wilms tumor
more
Genitourinary Kidneys:
renal stones
renal hamartomas
polycystic kidney disease
degenerative cysts

Laboratory Abnormalities:
hypercalcemia

Abdomen Pancreas:
recurring pancreatitis

Skeletal Skull:
multiple ossifying fibromas of the mandible and maxilla

Clinical features from OMIM®:

145001 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hyperparathyroidism 2 with Jaw Tumors:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.77 CASR CCND1 CDC73 MEN1 RET
2 neoplasm MP:0002006 9.73 CCND1 CDC73 MEN1 RET
3 behavior/neurological MP:0005386 9.73 CASR CCND1 CDC73 MEN1 POLR2L RET
4 digestive/alimentary MP:0005381 9.72 CASR CCND1 CDC73 MEN1 RET
5 muscle MP:0005369 9.71 CASR CDC73 MEN1 RET
6 respiratory system MP:0005388 9.46 CCND1 CDC73 MEN1 RET
7 reproductive system MP:0005389 9.35 CASR CCND1 CDC73 MEN1 RET
8 mortality/aging MP:0010768 9.1 CASR CCND1 CDC73 MEN1 POLR2L RET

Drugs & Therapeutics for Hyperparathyroidism 2 with Jaw Tumors

Search Clinical Trials, NIH Clinical Center for Hyperparathyroidism 2 with Jaw Tumors

Genetic Tests for Hyperparathyroidism 2 with Jaw Tumors

Genetic tests related to Hyperparathyroidism 2 with Jaw Tumors:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 2 with Jaw Tumors 28 CDC73
2 Parathyroid Adenoma with Cystic Changes 28

Anatomical Context for Hyperparathyroidism 2 with Jaw Tumors

Organs/tissues related to Hyperparathyroidism 2 with Jaw Tumors:

MalaCards : Kidney, Thyroid, Uterus, Bone, Breast, Prostate, Pituitary
ODiseA: Thyroid, Kidney

Publications for Hyperparathyroidism 2 with Jaw Tumors

Articles related to Hyperparathyroidism 2 with Jaw Tumors:

(show top 50) (show all 420)
# Title Authors PMID Year
1
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 53 62 57 5
12434154 2002
2
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. 53 62 5
15613436 2005
3
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. 53 62 5
15070940 2004
4
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. 53 62 5
14585940 2003
5
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. 53 62 57
11951180 2002
6
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. 53 62 57
9973288 1999
7
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. 53 62 57
7717405 1995
8
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. 62 5
28774260 2017
9
Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation. 62 57
25959515 2015
10
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 62 5
14715834 2004
11
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. 62 57
10770180 2000
12
Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. 62 57
8954016 1996
13
Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. 62 57
2123361 1990
14
Familial cystic parathyroid adenomatosis. 62 57
3592449 1987
15
Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. 57
9625369 1998
16
Familial hyperparathyroidism associated with jaw fibroma: case report and literature review. 57
7554319 1995
17
Familial primary hyperparathyroidism complicated with Wilms' tumor. 57
7912571 1994
18
Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings. 57
3856818 1985
19
Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence? 57
7283054 1981
20
Parathyroid carcinoma in familial hyperparathyroidism. 57
412876 1977
21
Jaw lesions in familial hyperparathyroidism. 57
5279024 1971
22
Hereditary hyperparathyroidism associated with recurrent pancreatitis. 57
13583774 1958
23
PLANT HOMOLOGOUS TO PARAFIBROMIN is a component of the PAF1 complex and assists in regulating expression of genes within H3K27ME3-enriched chromatin. 53 62
20363855 2010
24
Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. 53 62
19926710 2010
25
Hyperparathyroidism-jaw tumor syndrome: a case report. 53 62
19942209 2010
26
CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors. 53 62
20026646 2010
27
The tumor suppressor parafibromin is required for posttranscriptional processing of histone mRNA. 53 62
19908240 2010
28
CT-MIBI-SPECT image fusion predicts multiglandular disease in hyperparathyroidism. 53 62
19705144 2010
29
Molecular genetics of parathyroid disease. 53 62
19373510 2009
30
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. 53 62
19529956 2009
31
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. 53 62
19474519 2009
32
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 53 62
19148484 2009
33
Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma. 53 62
19017757 2009
34
Defining a molecular phenotype for benign and malignant parathyroid tumors. 53 62
19107770 2009
35
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 53 62
18755853 2008
36
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? 53 62
19169472 2008
37
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 53 62
18987311 2008
38
Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. 53 62
19092296 2008
39
An unusual case of primary hyperparathyroidism with profoundly elevated parathyroid hormone levels. 53 62
18996820 2008
40
Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene. 53 62
18996796 2008
41
Primary hyperparathyroidism: a current perspective. 53 62
18684024 2008
42
Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice. 53 62
18212049 2008
43
Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. 53 62
18338208 2008
44
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. 53 62
18436011 2008
45
Downregulated parafibromin expression is a promising marker for pathogenesis, invasion, metastasis and prognosis of gastric carcinomas. 53 62
18080135 2008
46
Parafibromin expression in breast cancer: a novel marker for prognostication? 53 62
17468290 2008
47
Challenging lesions in the differential diagnosis of endocrine tumors: parathyroid carcinoma. 53 62
19058032 2008
48
Aberrant methylation of the HRPT2 gene in parathyroid carcinoma. 53 62
18217513 2007
49
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. 53 62
18063086 2007
50
Nucleolar localization of parafibromin is mediated by three nucleolar localization signals. 53 62
17923126 2007

Variations for Hyperparathyroidism 2 with Jaw Tumors

ClinVar genetic disease variations for Hyperparathyroidism 2 with Jaw Tumors:

5 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC73 NM_024529.5(CDC73):c.3G>A (p.Met1Ile) SNV Pathogenic
3267 rs28942098 GRCh37: 1:193091333-193091333
GRCh38: 1:193122203-193122203
2 CDC73 NM_024529.5(CDC73):c.238-1G>A SNV Pathogenic
3279 rs587776559 GRCh37: 1:193099303-193099303
GRCh38: 1:193130173-193130173
3 overlap with 20 genes DEL Pathogenic
560081 GRCh37: 1:191888324-194584888
GRCh38: 1:191919194-194615758
4 CDC73 CDC73, 41-BP DUP/INS DUP Pathogenic
3269 GRCh37:
GRCh38:
5 CDC73 NM_024529.5(CDC73):c.766_767del (p.Val256fs) DEL Pathogenic
21687 rs80356650 GRCh37: 1:193117032-193117033
GRCh38: 1:193147902-193147903
6 CDC73 NM_024529.5(CDC73):c.687_688del (p.Arg229fs) MICROSAT Pathogenic
1076788 GRCh37: 1:193111146-193111147
GRCh38: 1:193142016-193142017
7 CDC73 NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) INSERT Pathogenic
3270 rs80356649 GRCh37: 1:193111146-193111147
GRCh38: 1:193142016-193142017
8 CDC73 NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) SNV Pathogenic
3268 rs121434262 GRCh37: 1:193091355-193091355
GRCh38: 1:193122225-193122225
9 CDC73 NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) SNV Likely Pathogenic
1449272 GRCh37: 1:193202163-193202163
GRCh38: 1:193233033-193233033
10 CDC73 NM_024529.5(CDC73):c.584del (p.Ser195fs) DEL Likely Pathogenic
1704640 GRCh37: 1:193111051-193111051
GRCh38: 1:193141921-193141921
11 CDC73 NM_024529.5(CDC73):c.1011C>T (p.Ala337=) SNV Uncertain Significance
412622 rs372567546 GRCh37: 1:193172963-193172963
GRCh38: 1:193203833-193203833
12 CDC73 NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) SNV Uncertain Significance
875447 rs1677756402 GRCh37: 1:193205393-193205393
GRCh38: 1:193236263-193236263
13 CDC73 NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) SNV Uncertain Significance
241494 rs368442389 GRCh37: 1:193205402-193205402
GRCh38: 1:193236272-193236272
14 CDC73 NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) SNV Uncertain Significance
403894 rs149875598 GRCh37: 1:193172941-193172941
GRCh38: 1:193203811-193203811
15 CDC73 NM_024529.4(CDC73):c.-186C>G SNV Uncertain Significance
294405 rs886045710 GRCh37: 1:193091145-193091145
GRCh38: 1:193122015-193122015
16 CDC73 NM_024529.5(CDC73):c.659T>C (p.Val220Ala) SNV Uncertain Significance
294412 rs886045713 GRCh37: 1:193111126-193111126
GRCh38: 1:193141996-193141996
17 CDC73 NM_024529.5(CDC73):c.834C>T (p.Pro278=) SNV Uncertain Significance
294413 rs886045714 GRCh37: 1:193119439-193119439
GRCh38: 1:193150309-193150309
18 CDC73 NM_024529.4(CDC73):c.-190G>C SNV Uncertain Significance
294404 rs886045709 GRCh37: 1:193091141-193091141
GRCh38: 1:193122011-193122011
19 CDC73 NM_024529.5(CDC73):c.-4dup DUP Uncertain Significance
286328 rs545666726 GRCh37: 1:193091319-193091320
GRCh38: 1:193122189-193122190
20 CDC73 NM_024529.5(CDC73):c.*3086C>T SNV Uncertain Significance
294458 rs886045733 GRCh37: 1:193222928-193222928
GRCh38: 1:193253798-193253798
21 CDC73 NM_024529.5(CDC73):c.*2455C>T SNV Uncertain Significance
294451 rs886045729 GRCh37: 1:193222297-193222297
GRCh38: 1:193253167-193253167
22 CDC73 NM_024529.5(CDC73):c.*1251A>G SNV Uncertain Significance
294431 rs550417983 GRCh37: 1:193221093-193221093
GRCh38: 1:193251963-193251963
23 CDC73 NM_024529.5(CDC73):c.*2982T>C SNV Uncertain Significance
294457 rs886045732 GRCh37: 1:193222824-193222824
GRCh38: 1:193253694-193253694
24 CDC73 NM_024529.5(CDC73):c.*244T>A SNV Uncertain Significance
873578 rs1678034707 GRCh37: 1:193220086-193220086
GRCh38: 1:193250956-193250956
25 CDC73 NM_024529.5(CDC73):c.*1442C>T SNV Uncertain Significance
873696 rs1678053550 GRCh37: 1:193221284-193221284
GRCh38: 1:193252154-193252154
26 CDC73 NM_024529.5(CDC73):c.*1789G>A SNV Uncertain Significance
873764 rs1323646186 GRCh37: 1:193221631-193221631
GRCh38: 1:193252501-193252501
27 CDC73 NM_024529.5(CDC73):c.*1821G>T SNV Uncertain Significance
873765 rs1678060916 GRCh37: 1:193221663-193221663
GRCh38: 1:193252533-193252533
28 CDC73 NM_024529.5(CDC73):c.*3695C>G SNV Uncertain Significance
873925 rs1678098304 GRCh37: 1:193223537-193223537
GRCh38: 1:193254407-193254407
29 CDC73 NM_024529.5(CDC73):c.-135C>T SNV Uncertain Significance
874426 rs1675456932 GRCh37: 1:193091196-193091196
GRCh38: 1:193122066-193122066
30 CDC73 NM_024529.5(CDC73):c.*298A>T SNV Uncertain Significance
874579 rs1678035186 GRCh37: 1:193220140-193220140
GRCh38: 1:193251010-193251010
31 CDC73 NM_024529.5(CDC73):c.*2625A>G SNV Uncertain Significance
874775 rs531872328 GRCh37: 1:193222467-193222467
GRCh38: 1:193253337-193253337
32 CDC73 NM_024529.5(CDC73):c.*3783C>T SNV Uncertain Significance
874870 rs1337028451 GRCh37: 1:193223625-193223625
GRCh38: 1:193254495-193254495
33 CDC73 NM_024529.5(CDC73):c.*1132G>T SNV Uncertain Significance
875556 rs1017988008 GRCh37: 1:193220974-193220974
GRCh38: 1:193251844-193251844
34 CDC73 NM_024529.5(CDC73):c.*1535A>G SNV Uncertain Significance
875611 rs1011765527 GRCh37: 1:193221377-193221377
GRCh38: 1:193252247-193252247
35 CDC73 NM_024529.5(CDC73):c.*2639C>G SNV Uncertain Significance
874776 rs1361287206 GRCh37: 1:193222481-193222481
GRCh38: 1:193253351-193253351
36 CDC73 NM_024529.5(CDC73):c.*3342G>A SNV Uncertain Significance
875756 rs1174982740 GRCh37: 1:193223184-193223184
GRCh38: 1:193254054-193254054
37 CDC73 NM_024529.5(CDC73):c.*3875A>G SNV Uncertain Significance
875802 rs1678100975 GRCh37: 1:193223717-193223717
GRCh38: 1:193254587-193254587
38 CDC73 NM_024529.5(CDC73):c.-167A>G SNV Uncertain Significance
876378 rs1156904196 GRCh37: 1:193091164-193091164
GRCh38: 1:193122034-193122034
39 CDC73 NM_024529.5(CDC73):c.*683G>A SNV Uncertain Significance
875503 rs905879297 GRCh37: 1:193220525-193220525
GRCh38: 1:193251395-193251395
40 CDC73 NM_024529.5(CDC73):c.*948C>T SNV Uncertain Significance
876517 rs761544591 GRCh37: 1:193220790-193220790
GRCh38: 1:193251660-193251660
41 CDC73 NM_024529.5(CDC73):c.*1292C>T SNV Uncertain Significance
876559 rs895043816 GRCh37: 1:193221134-193221134
GRCh38: 1:193252004-193252004
42 CDC73 NM_024529.5(CDC73):c.*1296C>G SNV Uncertain Significance
873695 rs1269411417 GRCh37: 1:193221138-193221138
GRCh38: 1:193252008-193252008
43 CDC73 NM_024529.5(CDC73):c.*1644C>T SNV Uncertain Significance
875612 rs764317616 GRCh37: 1:193221486-193221486
GRCh38: 1:193252356-193252356
44 CDC73 NM_024529.5(CDC73):c.*1660A>G SNV Uncertain Significance
876609 rs1310867519 GRCh37: 1:193221502-193221502
GRCh38: 1:193252372-193252372
45 CDC73 NM_024529.5(CDC73):c.*2801A>G SNV Uncertain Significance
876699 rs999015399 GRCh37: 1:193222643-193222643
GRCh38: 1:193253513-193253513
46 CDC73 NM_024529.5(CDC73):c.*3887G>T SNV Uncertain Significance
875803 rs1678101144 GRCh37: 1:193223729-193223729
GRCh38: 1:193254599-193254599
47 CDC73 NM_024529.5(CDC73):c.*1761T>C SNV Uncertain Significance
294438 rs528066706 GRCh37: 1:193221603-193221603
GRCh38: 1:193252473-193252473
48 CDC73 NM_024529.5(CDC73):c.*2131A>T SNV Uncertain Significance
294446 rs886045728 GRCh37: 1:193221973-193221973
GRCh38: 1:193252843-193252843
49 CDC73 NM_024529.5(CDC73):c.*3542A>G SNV Uncertain Significance
294465 rs886045736 GRCh37: 1:193223384-193223384
GRCh38: 1:193254254-193254254
50 CDC73 NM_024529.5(CDC73):c.*3266A>G SNV Uncertain Significance
294460 rs532839308 GRCh37: 1:193223108-193223108
GRCh38: 1:193253978-193253978

UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism 2 with Jaw Tumors:

73
# Symbol AA change Variation ID SNP ID
1 CDC73 p.Asp379Asn VAR_064936 rs971586985

Expression for Hyperparathyroidism 2 with Jaw Tumors

Search GEO for disease gene expression data for Hyperparathyroidism 2 with Jaw Tumors.

Pathways for Hyperparathyroidism 2 with Jaw Tumors

Pathways related to Hyperparathyroidism 2 with Jaw Tumors according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.51 RET POLR2L MEN1 CDC73 CCND1 CASR
2 10.61 RET CCND1

GO Terms for Hyperparathyroidism 2 with Jaw Tumors

Cellular components related to Hyperparathyroidism 2 with Jaw Tumors according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription repressor complex GO:0017053 8.92 MEN1 CCND1

Biological processes related to Hyperparathyroidism 2 with Jaw Tumors according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of epithelial cell proliferation GO:0050680 9.26 MEN1 CDC73
2 response to calcium ion GO:0051592 8.8 CCND1 CASR

Sources for Hyperparathyroidism 2 with Jaw Tumors

2 CDC
6 CNVD
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9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
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72 UMLS via Orphanet
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