MCID: HYP615
MIFTS: 27

Hyperparathyroidism, Familial Primary malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Aliases & Classifications for Hyperparathyroidism, Familial Primary

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Aliases & Descriptions for Hyperparathyroidism, Familial Primary:

Name: Hyperparathyroidism, Familial Primary 49 11
Familial Isolated Hyperparathyroidism 67
Familial Hyperparathyroidism 65
Hyperparathyroidism Type 1 67
 
Hyperparathyroidism 1 65
Hyperparathyroidism 3 65
Hrpt1 67
Fihp 67


Classifications:



External Ids:

OMIM49 145000

Summaries for Hyperparathyroidism, Familial Primary

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UniProtKB/Swiss-Prot:67 Familial isolated hyperparathyroidism: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.

MalaCards based summary: Hyperparathyroidism, Familial Primary, also known as familial isolated hyperparathyroidism, is related to hyperparathyroidism 3 and hyperparathyroidism-jaw tumor syndrome, and has symptoms including autosomal dominant inheritance, hypercalcemia and primary hyperparathyroidism. An important gene associated with Hyperparathyroidism, Familial Primary is CDC73 (Cell Division Cycle 73), and among its related pathways is Signaling by Wnt. Affiliated tissues include bone.

Description from OMIM:49 145000

Related Diseases for Hyperparathyroidism, Familial Primary

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Graphical network of the top 20 diseases related to Hyperparathyroidism, Familial Primary:



Diseases related to hyperparathyroidism, familial primary

Symptoms for Hyperparathyroidism, Familial Primary

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Symptoms by clinical synopsis from OMIM:

145000

Clinical features from OMIM:

145000

HPO human phenotypes related to Hyperparathyroidism, Familial Primary:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypercalcemia HP:0003072
3 primary hyperparathyroidism HP:0008200

Drugs & Therapeutics for Hyperparathyroidism, Familial Primary

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Calcium, DietaryPhase 33529
2vitamin dPhase 31463
3
Teriparatideapproved, investigational12852232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
4
Ergocalciferolapproved, nutraceutical88550-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
5Ergocalciferols885
6CalciferolNutraceutical1028
7Vitamin D2Nutraceutical885

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cinacalcet to Treat Familial Primary HyperparathyroidismCompletedNCT00325104Phase 3
2Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic RicketsCompletedNCT00417612Phase 3
3Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsRecruitingNCT00195936Phase 1
4Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early ParticipantsCompletedNCT01369953
5Vitamin D Deficiency in Elderly African American Women in Central TexasCompletedNCT01971411
6Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
7Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679

Search NIH Clinical Center for Hyperparathyroidism, Familial Primary

Genetic Tests for Hyperparathyroidism, Familial Primary

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Anatomical Context for Hyperparathyroidism, Familial Primary

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MalaCards organs/tissues related to Hyperparathyroidism, Familial Primary:

33
Bone

Animal Models for Hyperparathyroidism, Familial Primary or affiliated genes

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Publications for Hyperparathyroidism, Familial Primary

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Variations for Hyperparathyroidism, Familial Primary

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UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism, Familial Primary:

67
id Symbol AA change Variation ID SNP ID
1CDC73p.Leu64ProVAR_024082
2MEN1p.Val189GluVAR_005445
3MEN1p.Glu260LysVAR_005448
4MEN1p.Leu272ProVAR_005450
5MEN1p.Asp158ValVAR_039592
6MEN1p.Gln265ProVAR_039612
7MEN1p.Pro282HisVAR_039615
8MEN1p.Gly310AspVAR_039618
9MEN1p.Ala416ProVAR_039634

Clinvar genetic disease variations for Hyperparathyroidism, Familial Primary:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MEN1NM_000244.3(MEN1): c.778G> A (p.Glu260Lys)single nucleotide variantPathogenicrs104894268GRCh37Chr 11, 64575044: 64575044
2MEN1NM_000244.3(MEN1): c.566T> A (p.Val189Glu)single nucleotide variantPathogenicrs104894262GRCh37Chr 11, 64575466: 64575466
3MEN1NM_130803.2(MEN1): c.1365+1G> Asingle nucleotide variantPathogenicGRCh38Chr 11, 64805033: 64805033
4CDC73NM_024529.4(CDC73): c.237+1G> Tsingle nucleotide variantPathogenicrs794727303GRCh37Chr 1, 193094348: 193094348
5CDC73NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs)insertionPathogenicrs80356649GRCh37Chr 1, 193111146: 193111147
6CDC73NM_024529.4(CDC73): c.191T> C (p.Leu64Pro)single nucleotide variantPathogenicrs121434264GRCh37Chr 1, 193094301: 193094301
7CDC73NM_024529.4(CDC73): c.131+1G> Asingle nucleotide variantPathogenicrs587776558GRCh37Chr 1, 193091462: 193091462

Expression for genes affiliated with Hyperparathyroidism, Familial Primary

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Search GEO for disease gene expression data for Hyperparathyroidism, Familial Primary.

Pathways for genes affiliated with Hyperparathyroidism, Familial Primary

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Pathways related to Hyperparathyroidism, Familial Primary according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CDC73, MEN1

GO Terms for genes affiliated with Hyperparathyroidism, Familial Primary

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Biological processes related to Hyperparathyroidism, Familial Primary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferationGO:00506809.5CDC73, MEN1
2negative regulation of cell proliferationGO:00082859.3CDC73, MEN1
3negative regulation of transcription from RNA polymerase II promoterGO:00001229.1CDC73, MEN1

Sources for Hyperparathyroidism, Familial Primary

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet