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MCID: HYP741
MIFTS: 48

Hyperparathyroidism 2 with Jaw Tumors

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyperparathyroidism 2 with Jaw Tumors

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MalaCards integrated aliases for Hyperparathyroidism 2 with Jaw Tumors:

Name: Hyperparathyroidism 2 with Jaw Tumors 57 75
Hyperparathyroidism-Jaw Tumor Syndrome 57 53 25 59 75 13 73
Hpt-Jt 57 53 25 59 75
Hyperparathyroidism 2 53 25 29 6
Hrpt2 57 53 75 55
Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas 53 25 75
Hereditary Hyperparathyroidism-Jaw Tumor Syndrome 53 25
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 40
Parathyroid Adenomatosis, Familial Cystic 73
Familial Cystic Parathyroid Adenomatosis 25
Parathyroid Adenoma with Cystic Changes 57

Characteristics:

Orphanet epidemiological data:

59
hyperparathyroidism-jaw tumor syndrome
Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperparathyroidism 2 with jaw tumors:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Endocrine diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases
Rare endocrine diseases


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Summaries for Hyperparathyroidism 2 with Jaw Tumors

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NIH Rare Diseases : 53 Hyperparathyroidism-jaw tumorsyndrome (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.

MalaCards based summary : Hyperparathyroidism 2 with Jaw Tumors, also known as hyperparathyroidism-jaw tumor syndrome, is related to hyperparathyroidism 3 and hyperparathyroidism 1. 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 drug Formaldehyde has been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes, and related phenotypes are muscle weakness and dysphagia

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). (145001)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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Related Diseases for Hyperparathyroidism 2 with Jaw Tumors

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 3 32.4 CDC73 MEN1
2 hyperparathyroidism 1 30.6 CDC73 MEN1
3 hyperparathyroidism 29.3 CASR CDC73 MEN1 RET
4 primary hyperparathyroidism 27.5 CASR CCND1 CDC73 MEN1 RET
5 parathyroid carcinoma 27.3 CASR CCND1 CDC73 MEN1 RET
6 adenoma 27.0 CASR CCND1 CDC73 MEN1 RET
7 parathyroid adenoma 26.9 CASR CCND1 CDC73 MEN1 RET
8 endocrine organ benign neoplasm 10.2 CDC73 MEN1
9 familial hypocalciuric hypercalcemia 10.1 CASR CDC73
10 organ system benign neoplasm 10.1 CDC73 MEN1
11 multiple endocrine neoplasia, type iv 10.0 MEN1 RET
12 ossifying fibroma 10.0
13 multiple endocrine neoplasia, type iib 9.9 MEN1 RET
14 ectopic cushing syndrome 9.9 MEN1 RET
15 multiple endocrine neoplasia 9.8 MEN1 RET
16 fibrous dysplasia 9.8
17 slipped capital femoral epiphysis 9.8
18 autosomal genetic disease 9.8 MEN1 RET
19 endocrine gland cancer 9.7 MEN1 RET
20 thyroid carcinoma, familial medullary 9.7 MEN1 RET
21 multiple endocrine neoplasia, type iia 9.5 CDC73 MEN1 RET
22 thyroid cancer, nonmedullary, 2 9.3 MEN1 RET
23 von hippel-lindau syndrome 9.0 CCND1 MEN1 RET
24 trehalase deficiency 9.0 CASR CDC73 RET
25 parathyroid gland disease 9.0 CASR CDC73 MEN1 RET
26 multiple endocrine neoplasia, type i 8.9 CASR CDC73 MEN1 RET
27 cell type benign neoplasm 8.6 CCND1 CDC73 MEN1 RET

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



Diseases related to Hyperparathyroidism 2 with Jaw Tumors
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Symptoms & Phenotypes for Hyperparathyroidism 2 with Jaw Tumors

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Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hyperparathyroidism
solitary parathyroid adenomas (rarely multiple)

Neoplasia:
pancreatic adenocarcinoma
renal cortical adenoma
papillary renal cell carcinoma
wilms tumor
parathyroid carcinomas
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

Human phenotypes related to Hyperparathyroidism 2 with Jaw Tumors:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
4 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
5 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
6 polydipsia 59 32 frequent (33%) Frequent (79-30%) HP:0001959
7 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
8 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
9 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
10 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
11 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
12 fibroma 59 32 frequent (33%) Frequent (79-30%) HP:0010614
13 nephrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000121
14 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
15 parathyroid adenoma 59 32 obligate (100%) Obligate (100%) HP:0002897
16 hypercalcemia 59 32 Obligate (100%) HP:0003072
17 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
18 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
19 peptic ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0004398
20 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653
21 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
22 pancreatic adenocarcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006725
23 lipoma 59 32 very rare (1%) Very rare (<4-1%) HP:0012032
24 testicular neoplasm 59 32 very rare (1%) Very rare (<4-1%) HP:0010788
25 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
26 nephroblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002667
27 thyroid carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002890
28 renal cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0000107
29 uterine leiomyoma 59 32 frequent (33%) Frequent (79-30%) HP:0000131
30 infantile hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0008250
31 primary hyperparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0008200
32 shortened qt interval 59 32 frequent (33%) Frequent (79-30%) HP:0012232
33 renal hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0008696
34 mandibular pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0200025
35 polycystic kidney dysplasia 32 HP:0000113
36 hyperparathyroidism 32 HP:0000843
37 hamartoma 32 HP:0010566
38 recurrent pancreatitis 32 HP:0100027
39 parathyroid carcinoma 32 HP:0006780
40 abnormality of the head 32 HP:0000234
41 renal cortical adenoma 32 HP:0006735
42 papillary renal cell carcinoma 32 HP:0006766
43 abnormality of the parathyroid morphology 59 Very frequent (99-80%)
44 hurthle cell thyroid adenoma 32 HP:0006781

MGI Mouse Phenotypes related to Hyperparathyroidism 2 with Jaw Tumors:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.77 CASR CCND1 CDC73 MEN1 RET
2 digestive/alimentary MP:0005381 9.72 CASR CCND1 CDC73 MEN1 RET
3 endocrine/exocrine gland MP:0005379 9.65 CASR CCND1 CDC73 MEN1 RET
4 immune system MP:0005387 9.55 CASR CCND1 CDC73 MEN1 RET
5 muscle MP:0005369 9.26 CDC73 MEN1 RET CASR
6 neoplasm MP:0002006 8.92 CCND1 CDC73 MEN1 RET
Sources

Drugs & Therapeutics for Hyperparathyroidism 2 with Jaw Tumors

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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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Expression in Hyperparathyroidism Completed NCT03044600

Search NIH Clinical Center for Hyperparathyroidism 2 with Jaw Tumors

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Genetic Tests for Hyperparathyroidism 2 with Jaw Tumors

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Genetic tests related to Hyperparathyroidism 2 with Jaw Tumors:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 2 29 CDC73
Sources

Anatomical Context for Hyperparathyroidism 2 with Jaw Tumors

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

41
Bone, Kidney, Testes, Uterus, Thyroid
Sources

Publications for Hyperparathyroidism 2 with Jaw Tumors

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Articles related to Hyperparathyroidism 2 with Jaw Tumors:

(show all 39)
# Title Authors Year
1
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. ( 28674121 )
2017
2
Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature. ( 29386822 )
2017
3
Primary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis. ( 27857527 )
2016
4
Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia. ( 27650236 )
2016
5
Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome. ( 27679651 )
2016
6
Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review. ( 25511968 )
2015
7
Management of Ossifying Fibroma in a Suspicious Case of Hyperparathyroid-Jaw Tumor Syndrome. ( 26269732 )
2015
8
Hyperparathyroidism-Jaw Tumor Syndrome-An Overlooked Cause of Severe Hypercalcemia. ( 26445301 )
2015
9
Hyperparathyroidism-jaw tumor syndrome: Results of operative management. ( 25444225 )
2014
10
Hyperparathyroidism-jaw tumor syndrome. ( 22302605 )
2013
11
Aromatase inhibitor treatment ofA menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome. ( 22963808 )
2012
12
Hyperparathyroidism-jaw tumor syndrome: a case report. ( 19942209 )
2010
13
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. ( 20052758 )
2010
14
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. ( 20304979 )
2010
15
Hyperparathyroidism-jaw tumor syndrome: a case report. ( 19138622 )
2009
16
Hyperparathyroidism-jaw tumor syndrome. ( 19368060 )
2009
17
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. ( 19529956 )
2009
18
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. ( 17314275 )
2007
19
[Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. ( 17583828 )
2007
20
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. ( 16448924 )
2006
21
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. ( 15613436 )
2005
22
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. ( 15580289 )
2005
23
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. ( 16001331 )
2005
24
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046050 )
2004
25
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046107 )
2004
26
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. ( 15480389 )
2004
27
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046098 )
2004
28
Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. ( 15579037 )
2004
29
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046102 )
2004
30
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046109 )
2004
31
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046105 )
2004
32
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. ( 14715834 )
2004
33
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. ( 15046094 )
2004
34
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. ( 15070940 )
2004
35
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. ( 12434154 )
2002
36
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. ( 11951180 )
2002
37
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. ( 10770180 )
2000
38
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. ( 9973288 )
1999
39
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. ( 7717405 )
1995
Sources

Variations for Hyperparathyroidism 2 with Jaw Tumors

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

75
# Symbol AA change Variation ID SNP ID
1 CDC73 p.Asp379Asn VAR_064936 rs971586985

ClinVar genetic disease variations for Hyperparathyroidism 2 with Jaw Tumors:

6
(show top 50) (show all 164)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC73 NM_024529.4(CDC73): c.25C> T (p.Arg9Ter) single nucleotide variant Pathogenic rs121434262 GRCh38 Chromosome 1, 193122225: 193122225
2 CDC73 CDC73, 41-BP DUP/INS duplication Pathogenic
3 CDC73 NM_024529.4(CDC73): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs28942098 GRCh38 Chromosome 1, 193122203: 193122203
4 CDC73 NM_024529.4(CDC73): c.25C> T (p.Arg9Ter) single nucleotide variant Pathogenic rs121434262 GRCh37 Chromosome 1, 193091355: 193091355
5 CDC73 NM_024529.4(CDC73): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs28942098 GRCh37 Chromosome 1, 193091333: 193091333
6 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
7 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh38 Chromosome 1, 193142016: 193142017
8 CDC73 CDC73, 2-BP DEL deletion Pathogenic
9 CDC73 NM_024529.4(CDC73): c.238-1G> A single nucleotide variant Pathogenic rs587776559 GRCh37 Chromosome 1, 193099303: 193099303
10 CDC73 NM_024529.4(CDC73): c.238-1G> A single nucleotide variant Pathogenic rs587776559 GRCh38 Chromosome 1, 193130173: 193130173
11 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh37 Chromosome 1, 193094348: 193094348
12 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh38 Chromosome 1, 193125218: 193125218
13 CDC73 NM_024529.4(CDC73): c.*12C> A single nucleotide variant Likely benign rs193025205 GRCh37 Chromosome 1, 193219854: 193219854
14 CDC73 NM_024529.4(CDC73): c.*12C> A single nucleotide variant Likely benign rs193025205 GRCh38 Chromosome 1, 193250724: 193250724
15 B3GALT2; CDC73 NM_003783.3(B3GALT2): c.367T> G (p.Tyr123Asp) single nucleotide variant Likely benign rs41265203 GRCh37 Chromosome 1, 193150326: 193150326
16 B3GALT2; CDC73 NM_003783.3(B3GALT2): c.367T> G (p.Tyr123Asp) single nucleotide variant Likely benign rs41265203 GRCh38 Chromosome 1, 193181196: 193181196
17 CDC73 NM_024529.4(CDC73): c.33C> T (p.Tyr11=) single nucleotide variant Benign/Likely benign rs150951102 GRCh37 Chromosome 1, 193091363: 193091363
18 CDC73 NM_024529.4(CDC73): c.33C> T (p.Tyr11=) single nucleotide variant Benign/Likely benign rs150951102 GRCh38 Chromosome 1, 193122233: 193122233
19 CDC73 NM_024529.4(CDC73): c.840G> A (p.Leu280=) single nucleotide variant Likely benign rs10921320 GRCh38 Chromosome 1, 193150315: 193150315
20 CDC73 NM_024529.4(CDC73): c.840G> A (p.Leu280=) single nucleotide variant Likely benign rs10921320 GRCh37 Chromosome 1, 193119445: 193119445
21 CDC73 NM_024529.4(CDC73): c.1032T> G (p.Val344=) single nucleotide variant Benign/Likely benign rs148612206 GRCh37 Chromosome 1, 193181196: 193181196
22 CDC73 NM_024529.4(CDC73): c.1032T> G (p.Val344=) single nucleotide variant Benign/Likely benign rs148612206 GRCh38 Chromosome 1, 193212066: 193212066
23 CDC73 NM_024529.4(CDC73): c.-10G> T single nucleotide variant Benign/Likely benign rs188082584 GRCh37 Chromosome 1, 193091321: 193091321
24 CDC73 NM_024529.4(CDC73): c.-10G> T single nucleotide variant Benign/Likely benign rs188082584 GRCh38 Chromosome 1, 193122191: 193122191
25 CDC73 NM_024529.4(CDC73): c.-4dupG duplication Conflicting interpretations of pathogenicity rs545666726 GRCh37 Chromosome 1, 193091327: 193091327
26 CDC73 NM_024529.4(CDC73): c.-4dupG duplication Conflicting interpretations of pathogenicity rs545666726 GRCh38 Chromosome 1, 193122197: 193122197
27 CDC73 NM_024529.4(CDC73): c.-186C> G single nucleotide variant Uncertain significance rs886045710 GRCh37 Chromosome 1, 193091145: 193091145
28 CDC73 NM_024529.4(CDC73): c.-186C> G single nucleotide variant Uncertain significance rs886045710 GRCh38 Chromosome 1, 193122015: 193122015
29 CDC73 NM_024529.4(CDC73): c.-143G> C single nucleotide variant Uncertain significance rs778446879 GRCh37 Chromosome 1, 193091188: 193091188
30 CDC73 NM_024529.4(CDC73): c.-143G> C single nucleotide variant Uncertain significance rs778446879 GRCh38 Chromosome 1, 193122058: 193122058
31 CDC73 NM_024529.4(CDC73): c.-121G> A single nucleotide variant Uncertain significance rs886045711 GRCh37 Chromosome 1, 193091210: 193091210
32 CDC73 NM_024529.4(CDC73): c.-121G> A single nucleotide variant Uncertain significance rs886045711 GRCh38 Chromosome 1, 193122080: 193122080
33 CDC73 NM_024529.4(CDC73): c.-95G> A single nucleotide variant Likely benign rs143969598 GRCh37 Chromosome 1, 193091236: 193091236
34 CDC73 NM_024529.4(CDC73): c.-95G> A single nucleotide variant Likely benign rs143969598 GRCh38 Chromosome 1, 193122106: 193122106
35 CDC73 NM_024529.4(CDC73): c.659T> C (p.Val220Ala) single nucleotide variant Uncertain significance rs886045713 GRCh37 Chromosome 1, 193111126: 193111126
36 CDC73 NM_024529.4(CDC73): c.659T> C (p.Val220Ala) single nucleotide variant Uncertain significance rs886045713 GRCh38 Chromosome 1, 193141996: 193141996
37 CDC73 NM_024529.4(CDC73): c.*94A> G single nucleotide variant Likely benign rs547969893 GRCh37 Chromosome 1, 193219936: 193219936
38 CDC73 NM_024529.4(CDC73): c.*94A> G single nucleotide variant Likely benign rs547969893 GRCh38 Chromosome 1, 193250806: 193250806
39 CDC73 NM_024529.4(CDC73): c.*1056A> C single nucleotide variant Uncertain significance rs548106852 GRCh37 Chromosome 1, 193220898: 193220898
40 CDC73 NM_024529.4(CDC73): c.*1056A> C single nucleotide variant Uncertain significance rs548106852 GRCh38 Chromosome 1, 193251768: 193251768
41 CDC73 NM_024529.4(CDC73): c.*1251A> G single nucleotide variant Likely benign rs550417983 GRCh38 Chromosome 1, 193251963: 193251963
42 CDC73 NM_024529.4(CDC73): c.*1251A> G single nucleotide variant Likely benign rs550417983 GRCh37 Chromosome 1, 193221093: 193221093
43 CDC73 NM_024529.4(CDC73): c.*1761T> C single nucleotide variant Likely benign rs528066706 GRCh38 Chromosome 1, 193252473: 193252473
44 CDC73 NM_024529.4(CDC73): c.*1761T> C single nucleotide variant Likely benign rs528066706 GRCh37 Chromosome 1, 193221603: 193221603
45 CDC73 NM_024529.4(CDC73): c.*1787A> G single nucleotide variant Uncertain significance rs747621423 GRCh38 Chromosome 1, 193252499: 193252499
46 CDC73 NM_024529.4(CDC73): c.*1787A> G single nucleotide variant Uncertain significance rs747621423 GRCh37 Chromosome 1, 193221629: 193221629
47 CDC73 NM_024529.4(CDC73): c.-190G> C single nucleotide variant Uncertain significance rs886045709 GRCh37 Chromosome 1, 193091141: 193091141
48 CDC73 NM_024529.4(CDC73): c.-190G> C single nucleotide variant Uncertain significance rs886045709 GRCh38 Chromosome 1, 193122011: 193122011
49 CDC73 NM_024529.4(CDC73): c.201G> A (p.Val67=) single nucleotide variant Conflicting interpretations of pathogenicity rs752298916 GRCh37 Chromosome 1, 193094311: 193094311
50 CDC73 NM_024529.4(CDC73): c.201G> A (p.Val67=) single nucleotide variant Conflicting interpretations of pathogenicity rs752298916 GRCh38 Chromosome 1, 193125181: 193125181
Sources

Expression for Hyperparathyroidism 2 with Jaw Tumors

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

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

# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 66
Show member pathways
 12.8 CASR CCND1 CDC73 MEN1 POLR2L RET
Sources

GO Terms for Hyperparathyroidism 2 with Jaw Tumors

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 CDC73 MEN1

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 CDC73 POLR2L
2 negative regulation of epithelial cell proliferation GO:0050680 9.26 CDC73 MEN1
3 cellular response to glucose stimulus GO:0071333 9.16 CASR MEN1
4 response to calcium ion GO:0051592 8.96 CASR CCND1
5 beta-catenin-TCF complex assembly GO:1904837 8.62 CDC73 MEN1
Sources

Sources for Hyperparathyroidism 2 with Jaw Tumors

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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