HRPT2
MCID: HYP741
MIFTS: 51

Hyperparathyroidism 2 with Jaw Tumors (HRPT2)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism 2 with Jaw Tumors

MalaCards integrated aliases for Hyperparathyroidism 2 with Jaw Tumors:

Name: Hyperparathyroidism 2 with Jaw Tumors 57 72
Hyperparathyroidism-Jaw Tumor Syndrome 57 20 43 58 72 13 70
Hpt-Jt 57 20 43 58 72
Hyperparathyroidism 2 20 43 29 6
Hrpt2 57 20 72 54
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 20 43 72
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 20 43
Parathyroid Adenoma with Cystic Changes 57 29
Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas 57
Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary; Hpt-Jt 57
Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary 57
Hyperparathyroidism-Jaw Tumor Syndrome, Type 2 39
Parathyroid Adenomatosis, Familial Cystic 70
Familial Cystic Parathyroid Adenomatosis 43

Characteristics:

Orphanet epidemiological data:

58
hyperparathyroidism-jaw tumor syndrome
Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hyperparathyroidism 2 with jaw tumors:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases


Summaries for Hyperparathyroidism 2 with Jaw Tumors

MedlinePlus Genetics : 43 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 osteitis fibrosa. An important gene associated with Hyperparathyroidism 2 with Jaw Tumors is CDC73 (Cell Division Cycle 73), and among its related pathways/superpathways is Signaling by GPCR. The drugs Formaldehyde and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and thyroid, and related phenotypes are parathyroid adenoma and primary hyperparathyroidism

GARD : 20 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 mutations 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. Treatment may involve surgery to remove a parathyroid gland with a tumor, and to remove a jaw tumor. People who are unable to have tumors removed may need a medication called cinacalcet hydrochloride to treat severe hypercalcemia.

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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hyperparathyroidism 2 with jaw tumors: 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 76)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 31.7 MEN1 CDC73
2 osteitis fibrosa 30.4 CDC73 CASR
3 hyperparathyroidism 30.3 RET MEN1 CDC73 CASR
4 parathyroid carcinoma 30.2 RET MEN1 CDC73 CCND1 CASR
5 primary hyperparathyroidism 30.2 RET MEN1 CDC73 CCND1 CASR
6 multiple endocrine neoplasia 30.0 RET MEN1 CDC73
7 hypoparathyroidism 29.8 RET CASR
8 multiple endocrine neoplasia, type i 29.7 RET MEN1 CDC73 CASR
9 secondary hyperparathyroidism 29.6 MEN1 CASR
10 adenoma 29.3 RET MEN1 CDC73 CCND1 CASR
11 familial hypocalciuric hypercalcemia 29.2 RET MEN1 CDC73 CASR
12 parathyroid gland disease 29.2 RET MEN1 CDC73 CASR
13 parathyroid adenoma 29.1 RET MEN1 CDC73 CCND1 CASR
14 multiple endocrine neoplasia, type iia 29.0 RET MEN1 CDC73 CASR
15 cdc73-related disorders 10.5
16 bone inflammation disease 10.2
17 nephrolithiasis 10.2
18 fibroma 10.1
19 clear cell adenoma 10.1 MEN1 CDC73
20 infertility 10.1
21 tumor predisposition syndrome 10.1
22 cutaneous telangiectasia and cancer syndrome, familial 10.1
23 ossifying fibroma 10.1
24 inherited cancer-predisposing syndrome 10.1
25 hypocalciuric hypercalcemia, familial, type i 10.1 CDC73 CASR
26 hypocalciuric hypercalcemia, familial, type ii 10.1 CDC73 CASR
27 hypocalciuric hypercalcemia, familial, type iii 10.1 CDC73 CASR
28 nephrolithiasis, calcium oxalate 10.1
29 adenomyosis 10.1
30 renal cell carcinoma, papillary, 1 10.1
31 bone resorption disease 10.1
32 endometrial hyperplasia 10.1
33 cystic kidney disease 10.1
34 pancreatic adenocarcinoma 10.1
35 seminoma 10.1
36 ovarian cyst 10.1
37 chromophil renal cell carcinoma 10.1
38 germ cells tumors 10.1
39 mixed germ cell tumor 10.1
40 thyroid carcinoma 10.1
41 gastrinoma 10.0 MEN1 CASR
42 wilms tumor 1 10.0
43 slipped capital femoral epiphysis 10.0
44 multiple mucosal neuroma 10.0 RET MEN1
45 skin lipoma 10.0 RET MEN1
46 persistent generalized lymphadenopathy 10.0 RET MEN1
47 multiple endocrine neoplasia, type iib 10.0 RET MEN1
48 thyroid gland medullary carcinoma 10.0 RET MEN1
49 paraganglioma and gastric stromal sarcoma 10.0 RET MEN1
50 paraganglioma 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 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid adenoma 58 31 obligate (100%) Obligate (100%) HP:0002897
2 primary hyperparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0008200
3 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
4 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
5 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
8 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
9 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
10 fibroma 58 31 frequent (33%) Frequent (79-30%) HP:0010614
11 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
12 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
13 uterine leiomyoma 58 31 frequent (33%) Frequent (79-30%) HP:0000131
14 infantile hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0008250
15 shortened qt interval 58 31 frequent (33%) Frequent (79-30%) HP:0012232
16 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
17 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
18 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
19 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
20 peptic ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0004398
21 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
22 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
23 chondrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000934
24 renal cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000107
25 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
26 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
27 renal hamartoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0008696
28 mandibular pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0200025
29 pancreatic adenocarcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006725
30 lipoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012032
31 nephroblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002667
32 thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002890
33 testicular neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0010788
34 hypercalcemia 58 31 Obligate (100%) HP:0003072
35 hyperparathyroidism 31 HP:0000843
36 polycystic kidney dysplasia 31 HP:0000113
37 hamartoma 31 HP:0010566
38 parathyroid carcinoma 31 HP:0006780
39 abnormality of the parathyroid morphology 58 Very frequent (99-80%)
40 abnormality of the head 31 HP:0000234
41 papillary renal cell carcinoma 31 HP:0006766
42 renal cortical adenoma 31 HP:0006735
43 recurrent pancreatitis 31 HP:0100027
44 hurthle cell thyroid adenoma 31 HP:0006781

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Hyperparathyroidism 2 with Jaw Tumors:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.72 CASR CCND1 CDC73 MEN1 RET
2 craniofacial MP:0005382 9.67 CASR CCND1 CDC73 MEN1
3 endocrine/exocrine gland MP:0005379 9.65 CASR CCND1 CDC73 MEN1 RET
4 mortality/aging MP:0010768 9.63 CASR CCND1 CDC73 MEN1 POLR2L RET
5 muscle MP:0005369 9.26 CASR CDC73 MEN1 RET
6 neoplasm MP:0002006 8.92 CCND1 CDC73 MEN1 RET

Drugs & Therapeutics for Hyperparathyroidism 2 with Jaw Tumors

Drugs for Hyperparathyroidism 2 with Jaw Tumors (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Formaldehyde Approved, Vet_approved 50-00-0 712
2
Parathyroid hormone Approved, Investigational 9002-64-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Expression in Hyperparathyroidism: Identifying Molecular Differences in MEN1 Patients Versus Young MEN1 Negative Patients Terminated NCT03044600

Search 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 29 CDC73
2 Parathyroid Adenoma with Cystic Changes 29

Anatomical Context for Hyperparathyroidism 2 with Jaw Tumors

MalaCards organs/tissues related to Hyperparathyroidism 2 with Jaw Tumors:

40
Kidney, Uterus, Thyroid, Bone, Breast, Prostate

Publications for Hyperparathyroidism 2 with Jaw Tumors

Articles related to Hyperparathyroidism 2 with Jaw Tumors:

(show top 50) (show all 178)
# Title Authors PMID Year
1
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 61 57 54 6
12434154 2002
2
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. 61 54 6
15613436 2005
3
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. 61 6 54
15070940 2004
4
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. 61 57 54
11951180 2002
5
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. 57 54 61
9973288 1999
6
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. 54 61 57
7717405 1995
7
Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation. 61 57
25959515 2015
8
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 6 61
14715834 2004
9
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. 6 54
14585940 2003
10
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. 61 57
10770180 2000
11
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. 57 61
8954016 1996
12
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. 6
28774260 2017
13
Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. 57
9625369 1998
14
Familial hyperparathyroidism associated with jaw fibroma: case report and literature review. 57
7554319 1995
15
Familial primary hyperparathyroidism complicated with Wilms' tumor. 57
7912571 1994
16
Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. 57
2123361 1990
17
Familial cystic parathyroid adenomatosis. 57
3592449 1987
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
Hyperparathyroidism-jaw tumor syndrome: a case report. 54 61
19942209 2010
24
Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. 61 54
19926710 2010
25
CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors. 61 54
20026646 2010
26
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. 61 54
19529956 2009
27
Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma. 61 54
19017757 2009
28
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. 61 54
18755853 2008
29
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 61 54
18987311 2008
30
Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene. 54 61
18996796 2008
31
Primary hyperparathyroidism: a current perspective. 54 61
18684024 2008
32
Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice. 54 61
18212049 2008
33
Challenging lesions in the differential diagnosis of endocrine tumors: parathyroid carcinoma. 54 61
19058032 2008
34
Aberrant methylation of the HRPT2 gene in parathyroid carcinoma. 61 54
18217513 2007
35
[Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. 61 54
17583828 2007
36
Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. 61 54
17130827 2007
37
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. 61 54
17314275 2007
38
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. 54 61
17065424 2006
39
HRPT2 gene alterations in ossifying fibroma of the jaws. 54 61
16458039 2006
40
Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. 61 54
16116486 2005
41
The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. 54 61
15923622 2005
42
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. 54 61
16001331 2005
43
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. 61 54
15580289 2005
44
The parafibromin tumor suppressor protein is part of a human Paf1 complex. 61 54
15632063 2005
45
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. 54 61
15579037 2004
46
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. 54 61
15531515 2004
47
Obvious mRNA and protein expression but absence of mutations of the RET proto-oncogene in parathyroid tumors. 61 54
8616528 1996
48
A Woman with a 27-Year History of Hyperparathyroidism and Hypercalcemia Who Was Diagnosed with Low-Grade Parathyroid Carcinoma. 61
33707407 2021
49
Hyperparathyroidism-Jaw Tumor Syndrome. 61
33790762 2021
50
Ossifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures. 61
33505612 2020

Variations for Hyperparathyroidism 2 with Jaw Tumors

ClinVar genetic disease variations for Hyperparathyroidism 2 with Jaw Tumors:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC73 NM_024529.4(CDC73):c.3G>A (p.Met1Ile) SNV Pathogenic 3267 rs28942098 GRCh37: 1:193091333-193091333
GRCh38: 1:193122203-193122203
2 CDC73 NM_024529.4(CDC73):c.25C>T (p.Arg9Ter) SNV Pathogenic 3268 rs121434262 GRCh37: 1:193091355-193091355
GRCh38: 1:193122225-193122225
3 CDC73 CDC73, 41-BP DUP/INS Duplication Pathogenic 3269 GRCh37:
GRCh38:
4 CDC73 CDC73, 2-BP DEL Deletion Pathogenic 3277 GRCh37:
GRCh38:
5 CDC73 NM_024529.4(CDC73):c.238-1G>A SNV Pathogenic 3279 rs587776559 GRCh37: 1:193099303-193099303
GRCh38: 1:193130173-193130173
6 CDC73 NM_024529.4(CDC73):c.679_680insAG (p.Arg227fs) Insertion Pathogenic 3270 rs80356649 GRCh37: 1:193111146-193111147
GRCh38: 1:193142016-193142017
7 overlap with 16 genes Deletion Pathogenic 560081 GRCh37: 1:191888324-194584888
GRCh38: 1:191919194-194615758
8 CDC73 NM_024529.5(CDC73):c.*244T>A SNV Uncertain significance 873578 GRCh37: 1:193220086-193220086
GRCh38: 1:193250956-193250956
9 CDC73 NM_024529.5(CDC73):c.*1442C>T SNV Uncertain significance 873696 GRCh37: 1:193221284-193221284
GRCh38: 1:193252154-193252154
10 CDC73 NM_024529.5(CDC73):c.*1789G>A SNV Uncertain significance 873764 GRCh37: 1:193221631-193221631
GRCh38: 1:193252501-193252501
11 CDC73 NM_024529.5(CDC73):c.*1821G>T SNV Uncertain significance 873765 GRCh37: 1:193221663-193221663
GRCh38: 1:193252533-193252533
12 CDC73 NM_024529.5(CDC73):c.*3695C>G SNV Uncertain significance 873925 GRCh37: 1:193223537-193223537
GRCh38: 1:193254407-193254407
13 CDC73 NM_024529.5(CDC73):c.-135C>T SNV Uncertain significance 874426 GRCh37: 1:193091196-193091196
GRCh38: 1:193122066-193122066
14 CDC73 NM_024529.4(CDC73):c.1011C>T (p.Ala337=) SNV Uncertain significance 412622 rs372567546 GRCh37: 1:193172963-193172963
GRCh38: 1:193203833-193203833
15 CDC73 NM_024529.5(CDC73):c.*298A>T SNV Uncertain significance 874579 GRCh37: 1:193220140-193220140
GRCh38: 1:193251010-193251010
16 CDC73 NM_024529.5(CDC73):c.*2625A>G SNV Uncertain significance 874775 GRCh37: 1:193222467-193222467
GRCh38: 1:193253337-193253337
17 CDC73 NM_024529.4(CDC73):c.156A>G (p.Arg52=) SNV Uncertain significance 294410 rs886045712 GRCh37: 1:193094266-193094266
GRCh38: 1:193125136-193125136
18 CDC73 NM_024529.4(CDC73):c.*937G>A SNV Uncertain significance 294421 rs886045715 GRCh37: 1:193220779-193220779
GRCh38: 1:193251649-193251649
19 CDC73 NM_024529.4(CDC73):c.*2420A>C SNV Uncertain significance 294448 rs536960020 GRCh37: 1:193222262-193222262
GRCh38: 1:193253132-193253132
20 CDC73 NM_024529.4(CDC73):c.*1075A>G SNV Uncertain significance 294426 rs886045719 GRCh37: 1:193220917-193220917
GRCh38: 1:193251787-193251787
21 CDC73 NM_024529.4(CDC73):c.*956T>C SNV Uncertain significance 294422 rs886045716 GRCh37: 1:193220798-193220798
GRCh38: 1:193251668-193251668
22 CDC73 NM_024529.4(CDC73):c.*1985T>A SNV Uncertain significance 294443 rs886045726 GRCh37: 1:193221827-193221827
GRCh38: 1:193252697-193252697
23 CDC73 NM_024529.4(CDC73):c.-121G>A SNV Uncertain significance 294407 rs886045711 GRCh37: 1:193091210-193091210
GRCh38: 1:193122080-193122080
24 CDC73 NM_024529.4(CDC73):c.*1092A>G SNV Uncertain significance 294428 rs886045720 GRCh37: 1:193220934-193220934
GRCh38: 1:193251804-193251804
25 CDC73 NM_024529.4(CDC73):c.*1858C>G SNV Uncertain significance 294441 rs886045724 GRCh37: 1:193221700-193221700
GRCh38: 1:193252570-193252570
26 CDC73 NM_024529.4(CDC73):c.*1365T>C SNV Uncertain significance 294434 rs180929933 GRCh37: 1:193221207-193221207
GRCh38: 1:193252077-193252077
27 CDC73 NM_024529.4(CDC73):c.*972A>G SNV Uncertain significance 294423 rs886045717 GRCh37: 1:193220814-193220814
GRCh38: 1:193251684-193251684
28 CDC73 NM_024529.4(CDC73):c.*2963A>G SNV Uncertain significance 294456 rs886045731 GRCh37: 1:193222805-193222805
GRCh38: 1:193253675-193253675
29 CDC73 NM_024529.4(CDC73):c.*1472T>G SNV Uncertain significance 294435 rs576716003 GRCh37: 1:193221314-193221314
GRCh38: 1:193252184-193252184
30 CDC73 NM_024529.4(CDC73):c.*1956T>C SNV Uncertain significance 294442 rs886045725 GRCh37: 1:193221798-193221798
GRCh38: 1:193252668-193252668
31 CDC73 NM_024529.4(CDC73):c.*453A>C SNV Uncertain significance 294417 rs547363180 GRCh37: 1:193220295-193220295
GRCh38: 1:193251165-193251165
32 CDC73 NM_024529.4(CDC73):c.-143G>C SNV Uncertain significance 294406 rs778446879 GRCh37: 1:193091188-193091188
GRCh38: 1:193122058-193122058
33 CDC73 NM_024529.4(CDC73):c.*94A>G SNV Uncertain significance 294416 rs547969893 GRCh37: 1:193219936-193219936
GRCh38: 1:193250806-193250806
34 CDC73 NM_024529.4(CDC73):c.*1599A>G SNV Uncertain significance 294437 rs543573271 GRCh37: 1:193221441-193221441
GRCh38: 1:193252311-193252311
35 CDC73 NM_024529.4(CDC73):c.659T>C (p.Val220Ala) SNV Uncertain significance 294412 rs886045713 GRCh37: 1:193111126-193111126
GRCh38: 1:193141996-193141996
36 CDC73 NM_024529.4(CDC73):c.*2446C>T SNV Uncertain significance 294450 rs572307472 GRCh37: 1:193222288-193222288
GRCh38: 1:193253158-193253158
37 CDC73 NM_024529.4(CDC73):c.*2043A>T SNV Uncertain significance 294444 rs886045727 GRCh37: 1:193221885-193221885
GRCh38: 1:193252755-193252755
38 CDC73 NM_024529.4(CDC73):c.*1761T>C SNV Uncertain significance 294438 rs528066706 GRCh37: 1:193221603-193221603
GRCh38: 1:193252473-193252473
39 CDC73 NM_024529.4(CDC73):c.*2131A>T SNV Uncertain significance 294446 rs886045728 GRCh37: 1:193221973-193221973
GRCh38: 1:193252843-193252843
40 CDC73 NM_024529.4(CDC73):c.*3542A>G SNV Uncertain significance 294465 rs886045736 GRCh37: 1:193223384-193223384
GRCh38: 1:193254254-193254254
41 CDC73 NM_024529.4(CDC73):c.*3266A>G SNV Uncertain significance 294460 rs532839308 GRCh37: 1:193223108-193223108
GRCh38: 1:193253978-193253978
42 CDC73 NM_024529.4(CDC73):c.834C>T (p.Pro278=) SNV Uncertain significance 294413 rs886045714 GRCh37: 1:193119439-193119439
GRCh38: 1:193150309-193150309
43 CDC73 NM_024529.4(CDC73):c.-190G>C SNV Uncertain significance 294404 rs886045709 GRCh37: 1:193091141-193091141
GRCh38: 1:193122011-193122011
44 CDC73 NM_024529.4(CDC73):c.*2651T>G SNV Uncertain significance 294452 rs886045730 GRCh37: 1:193222493-193222493
GRCh38: 1:193253363-193253363
45 CDC73 NM_024529.4(CDC73):c.*3785A>G SNV Uncertain significance 294468 rs886045738 GRCh37: 1:193223627-193223627
GRCh38: 1:193254497-193254497
46 CDC73 NM_024529.4(CDC73):c.*3409_*3410del Deletion Uncertain significance 294461 rs886045735 GRCh37: 1:193223248-193223249
GRCh38: 1:193254118-193254119
47 CDC73 NM_024529.4(CDC73):c.*1074A>T SNV Uncertain significance 294425 rs886045718 GRCh37: 1:193220916-193220916
GRCh38: 1:193251786-193251786
48 CDC73 NM_024529.4(CDC73):c.*1144del Deletion Uncertain significance 294430 rs538761780 GRCh37: 1:193220975-193220975
GRCh38: 1:193251845-193251845
49 CDC73 NM_024529.4(CDC73):c.*1144dup Duplication Uncertain significance 294429 rs538761780 GRCh37: 1:193220974-193220975
GRCh38: 1:193251844-193251845
50 CDC73 NM_024529.4(CDC73):c.*1787A>G SNV Uncertain significance 294439 rs747621423 GRCh37: 1:193221629-193221629
GRCh38: 1:193252499-193252499

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

72
# 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
Show member pathways
12.8 RET POLR2L MEN1 CDC73 CCND1 CASR

GO Terms for Hyperparathyroidism 2 with Jaw Tumors

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

# Name GO ID Score Top Affiliating Genes
1 transcription elongation from RNA polymerase II promoter GO:0006368 9.32 POLR2L CDC73
2 negative regulation of epithelial cell proliferation GO:0050680 9.26 MEN1 CDC73
3 cellular response to glucose stimulus GO:0071333 9.16 MEN1 CASR
4 response to calcium ion GO:0051592 8.96 CCND1 CASR
5 beta-catenin-TCF complex assembly GO:1904837 8.62 MEN1 CDC73

Sources for Hyperparathyroidism 2 with Jaw Tumors

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
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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