HRPT1
MCID: HYP243
MIFTS: 48

Hyperparathyroidism 1 (HRPT1)

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

Aliases & Classifications for Hyperparathyroidism 1

MalaCards integrated aliases for Hyperparathyroidism 1:

Name: Hyperparathyroidism 1 57 20 43 72 29 6 70
Familial Isolated Hyperparathyroidism 20 43 58 72 6
Fihp 57 20 43 72
Hrpt1 57 20 72
Hyperparathyroidism, Familial Isolated Primary 57 20
Hyperparathyroidism, Familial Primary 57 13
Hyperparathyroidism, Familial Isolated Primary; Fihp 57
Hyperparathyroidism, Familial, Isolated, Primary 72
Familial Primary Hyperparathyroidism 20
Parathyroid Adenoma, Familial 70
Familial Parathyroid Adenoma 58
Hyperparathyroidism 3 70
Fihpt 58

Characteristics:

Orphanet epidemiological data:

58
familial isolated hyperparathyroidism
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

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


HPO:

31
hyperparathyroidism 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM® 57 145000
OMIM Phenotypic Series 57 PS145000
MeSH 44 D049950
MESH via Orphanet 45 C564166
ICD10 via Orphanet 33 E21.0
UMLS via Orphanet 71 C1840403
MedGen 41 C1840402
UMLS 70 C1840402 C1840403 C1864729

Summaries for Hyperparathyroidism 1

MedlinePlus Genetics : 43 Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream.In people with familial isolated hyperparathyroidism, the production of excess parathyroid hormone is caused by tumors that involve the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, more than one gland develops a tumor. The tumors are usually noncancerous (benign), in which case they are called adenomas. Rarely, people with familial isolated hyperparathyroidism develop a cancerous tumor called parathyroid carcinoma. Because the production of excess parathyroid hormone is caused by abnormalities of the parathyroid glands, familial isolated hyperparathyroidism is considered a form of primary hyperparathyroidism.Disruption of the normal calcium balance resulting from overactive parathyroid glands causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Because calcium is removed from bones to be released into the bloodstream, hyperparathyroidism often causes thinning of the bones (osteoporosis). The age at which familial isolated hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the first indication of the condition is elevated calcium levels identified through a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.

MalaCards based summary : Hyperparathyroidism 1, also known as familial isolated hyperparathyroidism, is related to hyperparathyroidism 2 with jaw tumors and adenoma. An important gene associated with Hyperparathyroidism 1 is CDC73 (Cell Division Cycle 73). The drugs Cinacalcet and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and thymus, and related phenotypes are primary hyperparathyroidism and osteopenia

GARD : 20 Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood ( hypercalcemia ). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene ), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes. Treatment for FIHP often includes surgical removal of the affected gland(s).

OMIM® : 57 Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). (145000) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hyperparathyroidism 1: An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas.

Related Diseases for Hyperparathyroidism 1

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism
Secondary Hyperparathyroidism Rare Hyperparathyroidism

Diseases related to Hyperparathyroidism 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 2 with jaw tumors 31.2 MEN1 CDC73
2 adenoma 30.1 MEN1 CDC73
3 multiple endocrine neoplasia 30.1 MEN1 CDC73
4 multiple endocrine neoplasia, type i 30.0 MEN1 CDC73
5 multiple endocrine neoplasia, type iia 29.6 MEN1 CDC73
6 multiple endocrine neoplasia, type iv 29.6 MEN1 CDC73
7 parathyroid carcinoma 29.5 MEN1 CDC73
8 parathyroid adenoma 29.5 MEN1 GCM2 CDC73
9 hyperparathyroidism 29.3 MEN1 GCM2 CDC73
10 parathyroid gland disease 29.3 MEN1 GCM2 CDC73
11 familial hypocalciuric hypercalcemia 29.3 MEN1 GCM2 CDC73
12 primary hyperparathyroidism 29.0 MEN1 GCM2 CDC73
13 hyperparathyroidism 4 11.1
14 hyperparathyroidism 3 11.0
15 hypercalcemia, infantile, 1 10.1
16 urolithiasis 10.1
17 ossifying fibroma 9.9
18 tumor predisposition syndrome 9.9
19 cutaneous telangiectasia and cancer syndrome, familial 9.9
20 cdc73-related disorders 9.9
21 inherited cancer-predisposing syndrome 9.9
22 cherubism 9.9
23 hypocalcemia, autosomal dominant 1 9.9
24 hypophosphatemia 9.9
25 polycystic kidney disease 9.9
26 acromegaly 9.9
27 granulosa cell tumor of the ovary 9.9
28 hypocalciuric hypercalcemia, familial, type i 9.9
29 hyperparathyroidism, neonatal severe 9.9
30 fibroma 9.9
31 bone disease 9.9
32 secondary hyperparathyroidism 9.9
33 nephrolithiasis 9.9
34 wilms tumor predisposition 9.9
35 pituitary tumors 9.9
36 clear cell adenoma 9.9 MEN1 CDC73
37 mineral metabolism disease 9.8 MEN1 CDC73
38 kidney disease 9.8
39 endocrine organ benign neoplasm 9.6 MEN1 CDC73

Graphical network of the top 20 diseases related to Hyperparathyroidism 1:



Diseases related to Hyperparathyroidism 1

Symptoms & Phenotypes for Hyperparathyroidism 1

Human phenotypes related to Hyperparathyroidism 1:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary hyperparathyroidism 58 31 obligate (100%) Very frequent (99-80%),Obligate (100%) HP:0008200
2 osteopenia 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000938
3 hypophosphatemia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002148
4 nephrocalcinosis 58 31 very rare (1%) Very frequent (99-80%),Very rare (<4-1%) HP:0000121
5 hypercalciuria 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002150
6 chondrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000934
7 parathyroid adenoma 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002897
8 hyperphosphaturia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0003109
9 generalized osteoporosis 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0040160
10 elevated circulating parathyroid hormone level 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0003165
11 infantile hypercalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008250
12 parathyroid hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008208
13 left ventricular hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001712
14 mitral valve calcification 58 31 frequent (33%) Frequent (79-30%) HP:0004382
15 hypercalcemia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0003072
16 aortic valve calcification 58 31 frequent (33%) Frequent (79-30%) HP:0004380
17 renal insufficiency 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%) HP:0000083
18 abdominal symptom 58 31 occasional (7.5%) Occasional (29-5%) HP:0011458
19 elevated alkaline phosphatase of bone origin 58 31 occasional (7.5%) Occasional (29-5%) HP:0010639
20 calcium nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004724
21 recurrent fractures 58 31 very rare (1%) Very rare (<4-1%) HP:0002757
22 parathyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006780
23 polyarticular chondrocalcinosis 58 31 very rare (1%) Very rare (<4-1%) HP:0005017

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypercalcemia
primary chief cell hyperplasia

Endocrine Features:
primary hyperparathyroidism

Clinical features from OMIM®:

145000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hyperparathyroidism 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 CDC73 GCM2 MEN1
2 endocrine/exocrine gland MP:0005379 8.92 B3GALT2 CDC73 GCM2 MEN1

Drugs & Therapeutics for Hyperparathyroidism 1

Drugs for Hyperparathyroidism 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cinacalcet Approved Phase 3 226256-56-0 156419
2
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
3 Hormone Antagonists Phase 3
4 Hormones Phase 3
5 Calcium, Dietary Phase 3
6
Calcium Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3

Search NIH Clinical Center for Hyperparathyroidism 1

Genetic Tests for Hyperparathyroidism 1

Genetic tests related to Hyperparathyroidism 1:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 1 29 CDC73

Anatomical Context for Hyperparathyroidism 1

MalaCards organs/tissues related to Hyperparathyroidism 1:

40
Bone, Thyroid, Thymus, Breast

Publications for Hyperparathyroidism 1

Articles related to Hyperparathyroidism 1:

(show top 50) (show all 197)
# Title Authors PMID Year
1
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. 6 57
15531515 2004
2
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. 6 57
12434154 2002
3
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. 6 61
28774260 2017
4
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. 6 61
15292357 2004
5
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 61 6
14715834 2004
6
Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. 61 57
9626148 1998
7
Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. 61 57
7903311 1993
8
Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation. 57
25959515 2015
9
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. 6
14585940 2003
10
Oral alendronate increases bone mineral density in postmenopausal women with primary hyperparathyroidism. 57
12574184 2003
11
GH secretion is impaired in patients with primary hyperparathyroidism. 57
11994325 2002
12
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. 57
9792884 1998
13
Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features. 57
9509070 1998
14
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 57
9215689 1997
15
Cardiac abnormalities in patients with primary hyperparathyroidism: implications for follow-up. 57
8989242 1997
16
Familial isolated primary hyperparathyroidism. 57
7955451 1994
17
Studies in a kindred with parathyroid carcinoma. 57
1639936 1992
18
Monoclonality and abnormal parathyroid hormone genes in parathyroid adenomas. 57
3344017 1988
19
Autosomal recessive inheritance of familial hyperparathyroidism. 57
6888431 1983
20
Familial hyperparathyroidism. 57
7377835 1980
21
Carcinoid of the thymus with hereditary hyperparathyroidism. 57
686552 1978
22
Parathyroid carcinoma in familial hyperparathyroidism. 57
412876 1977
23
Family studies in patients with primary parathyroid hyperplasia. 57
871127 1977
24
Familial hyperparathyroidism. 57
984613 1976
25
Familial hyperparathyroidism. Description of a large kindred with physiologic observations and a review of the literature. 57
1244790 1976
26
Occurrence of other endocrine tumours in primary hyperparathyroidism. 57
78151 1975
27
[Familial cancer of the parathyroid glands. Importance of angiography in the diagnosis of regional recurrences. Considerations on 2 cases]. 57
1176554 1975
28
Parathyroid carcinoma in familial hyperparathyroidism. 57
4372885 1974
29
Familial hyperparathyroidism. 57
4135089 1974
30
Familial parathyroid carcinoma. 57
4657413 1972
31
Familial hyperparathyroidism. Medical and surgical considerations. 57
5694438 1968
32
The relationship of hereditary hyperparathyroidism to endocrine adenomatosis. 57
4383267 1967
33
Familial hyperparathyroidism. 57
5938607 1966
34
FAMILIAL HYPERPARATHYROIDISM. A KINDRED INVOLVING ELEVEN CASES, WITH A DISCUSSION OF PRIMARY CHIEF-CELL HYPERPLASIA. 57
14110030 1964
35
A familial occurrence of hyperparathyroidism caused by multiple parathyroid adenomas. 57
13691344 1960
36
Hyperparathyroidism-Jaw Tumor Syndrome. 61
33790762 2021
37
[Hereditary syndromal and nonsyndromal forms of primary hyperparathyroidism]. 61
33351310 2020
38
Whole exome sequencing in familial isolated primary hyperparathyroidism. 61
31486992 2020
39
New Concepts About Familial Isolated Hyperparathyroidism. 61
30848815 2019
40
UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population. 61
30339208 2019
41
Familial and Hereditary Forms of Primary Hyperparathyroidism. 61
30641519 2019
42
Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective. 61
30536424 2019
43
Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. 61
30665551 2018
44
Familial isolated hyperparathyroidism due to HRPT2 mutation. 61
29941370 2018
45
Recent Topics Around Multiple Endocrine Neoplasia Type 1. 61
29897580 2018
46
Should all patients with hyperparathyroidism be screened for a CDC73 mutation? 61
29535865 2018
47
Heritable forms of primary hyperparathyroidism: a current perspective. 61
29239035 2018
48
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. 61
29108698 2018
49
Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue. 61
29136674 2017
50
Effectiveness of Intraoperative Parathyroid Monitoring (ioPTH) in predicting a multiglandular or malignant parathyroid disease. 61
28506410 2017

Variations for Hyperparathyroidism 1

ClinVar genetic disease variations for Hyperparathyroidism 1:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC73 NM_024529.4(CDC73):c.191T>C (p.Leu64Pro) SNV Pathogenic 3272 rs121434264 GRCh37: 1:193094301-193094301
GRCh38: 1:193125171-193125171
2 MEN1 NM_000244.3(MEN1):c.1365+1G>A SNV Pathogenic 16707 rs863223311 GRCh37: 11:64572505-64572505
GRCh38: 11:64805033-64805033
3 CDC73 NM_024529.4(CDC73):c.679_680insAG (p.Arg227fs) Insertion Pathogenic 3270 rs80356649 GRCh37: 1:193111146-193111147
GRCh38: 1:193142016-193142017
4 overlap with 16 genes Deletion Pathogenic 560081 GRCh37: 1:191888324-194584888
GRCh38: 1:191919194-194615758
5 CDC73 NM_024529.4(CDC73):c.131+1G>A SNV Pathogenic 3276 rs587776558 GRCh37: 1:193091462-193091462
GRCh38: 1:193122332-193122332
6 CDC73 NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) SNV Pathogenic 846304 GRCh37: 1:193099337-193099337
GRCh38: 1:193130207-193130207
7 CDC73 NM_024529.4(CDC73):c.132-2A>G SNV Likely pathogenic 375573 rs1057519419 GRCh37: 1:193094240-193094240
GRCh38: 1:193125110-193125110
8 CDC73 NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) SNV Uncertain significance 875447 GRCh37: 1:193205393-193205393
GRCh38: 1:193236263-193236263
9 B3GALT2 , CDC73 NM_024529.5(CDC73):c.973-23487G>A SNV Uncertain significance 1031373 GRCh37: 1:193149438-193149438
GRCh38: 1:193180308-193180308
10 CDC73 NM_024529.4(CDC73):c.534A>G (p.Ser178=) SNV Uncertain significance 515469 rs150365980 GRCh37: 1:193111001-193111001
GRCh38: 1:193141871-193141871
11 MEN1 NM_000244.3(MEN1):c.1356T>G (p.Phe452Leu) SNV Uncertain significance 585285 rs1325598637 GRCh37: 11:64572515-64572515
GRCh38: 11:64805043-64805043
12 CDC73 NM_024529.5(CDC73):c.*244T>A SNV Uncertain significance 873578 GRCh37: 1:193220086-193220086
GRCh38: 1:193250956-193250956
13 CDC73 NM_024529.5(CDC73):c.*1789G>A SNV Uncertain significance 873764 GRCh37: 1:193221631-193221631
GRCh38: 1:193252501-193252501
14 CDC73 NM_024529.5(CDC73):c.*1821G>T SNV Uncertain significance 873765 GRCh37: 1:193221663-193221663
GRCh38: 1:193252533-193252533
15 CDC73 NM_024529.4(CDC73):c.*94A>G SNV Uncertain significance 294416 rs547969893 GRCh37: 1:193219936-193219936
GRCh38: 1:193250806-193250806
16 CDC73 NM_024529.4(CDC73):c.*1761T>C SNV Uncertain significance 294438 rs528066706 GRCh37: 1:193221603-193221603
GRCh38: 1:193252473-193252473
17 CDC73 NM_024529.4(CDC73):c.*1599A>G SNV Uncertain significance 294437 rs543573271 GRCh37: 1:193221441-193221441
GRCh38: 1:193252311-193252311
18 CDC73 NM_024529.4(CDC73):c.659T>C (p.Val220Ala) SNV Uncertain significance 294412 rs886045713 GRCh37: 1:193111126-193111126
GRCh38: 1:193141996-193141996
19 CDC73 NM_024529.4(CDC73):c.834C>T (p.Pro278=) SNV Uncertain significance 294413 rs886045714 GRCh37: 1:193119439-193119439
GRCh38: 1:193150309-193150309
20 CDC73 NM_024529.4(CDC73):c.*2043A>T SNV Uncertain significance 294444 rs886045727 GRCh37: 1:193221885-193221885
GRCh38: 1:193252755-193252755
21 CDC73 NM_024529.4(CDC73):c.201G>A (p.Val67=) SNV Uncertain significance 294411 rs752298916 GRCh37: 1:193094311-193094311
GRCh38: 1:193125181-193125181
22 CDC73 NM_024529.4(CDC73):c.*1075A>G SNV Uncertain significance 294426 rs886045719 GRCh37: 1:193220917-193220917
GRCh38: 1:193251787-193251787
23 CDC73 NM_024529.4(CDC73):c.*3714T>C SNV Uncertain significance 294467 rs886045737 GRCh37: 1:193223556-193223556
GRCh38: 1:193254426-193254426
24 CDC73 NM_024529.4(CDC73):c.*1833A>G SNV Uncertain significance 294440 rs150894778 GRCh37: 1:193221675-193221675
GRCh38: 1:193252545-193252545
25 CDC73 NM_024529.4(CDC73):c.-190G>C SNV Uncertain significance 294404 rs886045709 GRCh37: 1:193091141-193091141
GRCh38: 1:193122011-193122011
26 CDC73 NM_024529.4(CDC73):c.*956T>C SNV Uncertain significance 294422 rs886045716 GRCh37: 1:193220798-193220798
GRCh38: 1:193251668-193251668
27 CDC73 NM_024529.4(CDC73):c.156A>G (p.Arg52=) SNV Uncertain significance 294410 rs886045712 GRCh37: 1:193094266-193094266
GRCh38: 1:193125136-193125136
28 CDC73 NM_024529.4(CDC73):c.*2420A>C SNV Uncertain significance 294448 rs536960020 GRCh37: 1:193222262-193222262
GRCh38: 1:193253132-193253132
29 CDC73 NM_024529.4(CDC73):c.*3266A>G SNV Uncertain significance 294460 rs532839308 GRCh37: 1:193223108-193223108
GRCh38: 1:193253978-193253978
30 CDC73 NM_024529.4(CDC73):c.*2982T>C SNV Uncertain significance 294457 rs886045732 GRCh37: 1:193222824-193222824
GRCh38: 1:193253694-193253694
31 CDC73 NM_024529.4(CDC73):c.*3419T>A SNV Uncertain significance 294462 rs566373225 GRCh37: 1:193223261-193223261
GRCh38: 1:193254131-193254131
32 CDC73 NM_024529.4(CDC73):c.*1985T>A SNV Uncertain significance 294443 rs886045726 GRCh37: 1:193221827-193221827
GRCh38: 1:193252697-193252697
33 CDC73 NM_024529.4(CDC73):c.*2446C>T SNV Uncertain significance 294450 rs572307472 GRCh37: 1:193222288-193222288
GRCh38: 1:193253158-193253158
34 CDC73 NM_024529.4(CDC73):c.*1472T>G SNV Uncertain significance 294435 rs576716003 GRCh37: 1:193221314-193221314
GRCh38: 1:193252184-193252184
35 CDC73 NM_024529.4(CDC73):c.*1499T>A SNV Uncertain significance 294436 rs138503809 GRCh37: 1:193221341-193221341
GRCh38: 1:193252211-193252211
36 CDC73 NM_024529.4(CDC73):c.*1365T>C SNV Uncertain significance 294434 rs180929933 GRCh37: 1:193221207-193221207
GRCh38: 1:193252077-193252077
37 CDC73 NM_024529.4(CDC73):c.*453A>C SNV Uncertain significance 294417 rs547363180 GRCh37: 1:193220295-193220295
GRCh38: 1:193251165-193251165
38 CDC73 NM_024529.4(CDC73):c.*2651T>G SNV Uncertain significance 294452 rs886045730 GRCh37: 1:193222493-193222493
GRCh38: 1:193253363-193253363
39 CDC73 NM_024529.4(CDC73):c.*972A>G SNV Uncertain significance 294423 rs886045717 GRCh37: 1:193220814-193220814
GRCh38: 1:193251684-193251684
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.*2131A>T SNV Uncertain significance 294446 rs886045728 GRCh37: 1:193221973-193221973
GRCh38: 1:193252843-193252843
42 CDC73 NM_024529.4(CDC73):c.*463A>G SNV Uncertain significance 294418 rs879039427 GRCh37: 1:193220305-193220305
GRCh38: 1:193251175-193251175
43 CDC73 NM_024529.4(CDC73):c.*1092A>G SNV Uncertain significance 294428 rs886045720 GRCh37: 1:193220934-193220934
GRCh38: 1:193251804-193251804
44 CDC73 NM_024529.4(CDC73):c.1417+9C>T SNV Uncertain significance 294414 rs769784756 GRCh37: 1:193205495-193205495
GRCh38: 1:193236365-193236365
45 CDC73 NM_024529.4(CDC73):c.*1858C>G SNV Uncertain significance 294441 rs886045724 GRCh37: 1:193221700-193221700
GRCh38: 1:193252570-193252570
46 CDC73 NM_024529.4(CDC73):c.*3086C>T SNV Uncertain significance 294458 rs886045733 GRCh37: 1:193222928-193222928
GRCh38: 1:193253798-193253798
47 CDC73 NM_024529.4(CDC73):c.-121G>A SNV Uncertain significance 294407 rs886045711 GRCh37: 1:193091210-193091210
GRCh38: 1:193122080-193122080
48 CDC73 NM_024529.4(CDC73):c.*937G>A SNV Uncertain significance 294421 rs886045715 GRCh37: 1:193220779-193220779
GRCh38: 1:193251649-193251649
49 CDC73 NM_024529.4(CDC73):c.*2455C>T SNV Uncertain significance 294451 rs886045729 GRCh37: 1:193222297-193222297
GRCh38: 1:193253167-193253167
50 CDC73 NM_024529.4(CDC73):c.*3791T>C SNV Uncertain significance 294471 rs886045739 GRCh37: 1:193223633-193223633
GRCh38: 1:193254503-193254503

UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism 1:

72
# Symbol AA change Variation ID SNP ID
1 CDC73 p.Leu64Pro VAR_024082 rs121434264

Expression for Hyperparathyroidism 1

Search GEO for disease gene expression data for Hyperparathyroidism 1.

Pathways for Hyperparathyroidism 1

GO Terms for Hyperparathyroidism 1

Cellular components related to Hyperparathyroidism 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 8.62 MEN1 CDC73

Biological processes related to Hyperparathyroidism 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.16 GCM2 CDC73
2 negative regulation of epithelial cell proliferation GO:0050680 8.96 MEN1 CDC73
3 beta-catenin-TCF complex assembly GO:1904837 8.62 MEN1 CDC73

Sources for Hyperparathyroidism 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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