MCID: HYP169
MIFTS: 13

Hyperparathyroidism, Neonatal Severe Primary malady

Summaries for Hyperparathyroidism, Neonatal Severe Primary

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33MalaCards
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MalaCards: Hyperparathyroidism, Neonatal Severe Primary is related to primary hyperparathyroidism and hyperparathyroidism, neonatal. An important gene associated with Hyperparathyroidism, Neonatal Severe Primary is CASR (calcium-sensing receptor).

Aliases & Classifications for Hyperparathyroidism, Neonatal Severe Primary

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43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

hyperparathyroidism, neonatal severe primary 43 20 22 61


Related Diseases for Hyperparathyroidism, Neonatal Severe Primary

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17GeneCards, 18GeneDecks
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Diseases in the hyperparathyroidism, neonatal family:

hyperparathyroidism, neonatal severe primary

Diseases related to Hyperparathyroidism, Neonatal Severe Primary via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperparathyroidism10.2
2hyperparathyroidism, neonatal10.2

Clinical Features for Hyperparathyroidism, Neonatal Severe Primary

Drugs & Therapeutics for Hyperparathyroidism, Neonatal Severe Primary

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperparathyroidism, Neonatal Severe Primary

Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism, Neonatal Severe Primary

Search NIH Clinical Center for Hyperparathyroidism, Neonatal Severe Primary

Search CenterWatch for Hyperparathyroidism, Neonatal Severe Primary

Genetic Tests for Hyperparathyroidism, Neonatal Severe Primary

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20GeneTests, 22GTR
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Genetic tests related to Hyperparathyroidism, Neonatal Severe Primary:

id Genetic test Affiliating Genes
1 Neonatal Severe Primary Hyperparathyroidism20 CASR
2 Hyperparathyroidism, Neonatal Severe Primary22

Anatomical Context for Hyperparathyroidism, Neonatal Severe Primary

Animal Models for Hyperparathyroidism, Neonatal Severe Primary or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Hyperparathyroidism, Neonatal Severe Primary

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51PubMed
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Articles related to Hyperparathyroidism, Neonatal Severe Primary:

idTitleAuthorsYear
1
Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism. (22331334)
2012
2
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. (18751724)
2009
3
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. (6543841)
1984
4
Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. (6843519)
1983
5
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. (7054696)
1982

Genetic Variations for Hyperparathyroidism, Neonatal Severe Primary

Expression for genes affiliated with Hyperparathyroidism, Neonatal Severe Primary

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperparathyroidism, Neonatal Severe Primary

Search GEO for disease gene expression data for Hyperparathyroidism, Neonatal Severe Primary.

Pathways for genes affiliated with Hyperparathyroidism, Neonatal Severe Primary

Compounds for genes affiliated with Hyperparathyroidism, Neonatal Severe Primary

GO Terms for genes affiliated with Hyperparathyroidism, Neonatal Severe Primary

Products for genes affiliated with Hyperparathyroidism, Neonatal Severe Primary

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperparathyroidism, Neonatal Severe Primary

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet