NSHPT
MCID: HYP315
MIFTS: 24

Hyperparathyroidism, Neonatal (NSHPT) malady

Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Hyperparathyroidism, Neonatal

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48OMIM, 34MalaCards
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MalaCards: Hyperparathyroidism, Neonatal, also known as hyperparathyroidism, neonatal severe primary, is related to familial hypocalciuric hypercalcemia and hyperparathyroidism, and has symptoms including short stature/dwarfism/nanism, autosomal recessive inheritance and aminoacid metabolism anomalies/aminoaciduria. An important gene associated with Hyperparathyroidism, Neonatal is CASR (calcium-sensing receptor). Affiliated tissues include bone and liver.

Description from OMIM:48 239200

Aliases & Classifications for Hyperparathyroidism, Neonatal

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Sources:
63UMLS, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
neonatal severe primary hyperparathyroidism:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

hyperparathyroidism, neonatal 48
hyperparathyroidism, neonatal severe primary 63
neonatal severe primary hyperparathyroidism 50
nshpt 50


External Ids:

OMIM48 239200
ICD10 via Orphanet27 E21.0

Related Diseases for Hyperparathyroidism, Neonatal

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18GeneCards, 19GeneDecks
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Diseases in the Hyperparathyroidism, Neonatal family:

Hyperparathyroidism, Neonatal Severe Primary

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

idRelated DiseaseScoreTop Affiliating Genes
1familial hypocalciuric hypercalcemia10.4
2hyperparathyroidism10.4
3hyperparathyroidism, neonatal severe primary10.4
4alkaptonuria10.2
5primary hyperparathyroidism10.2
6mental retardation10.0
7hypercalcemia10.0

Graphical network of diseases related to Hyperparathyroidism, Neonatal:



Diseases related to hyperparathyroidism, neonatal

Symptoms for Hyperparathyroidism, Neonatal

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

239200

Clinical features from OMIM:

239200

Symptoms:

50 (show all 12)
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • aminoacid metabolism anomalies/aminoaciduria
  • phosphocalcic metabolism anomalies
  • metaphyseal anomaly
  • mutiple fractures/bone fragility
  • hypotonia
  • hyperparathyroidy
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • narrow rib cage/thorax

Drugs & Therapeutics for Hyperparathyroidism, Neonatal

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperparathyroidism, Neonatal

Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism, Neonatal

Search NIH Clinical Center for Hyperparathyroidism, Neonatal

Search CenterWatch for Hyperparathyroidism, Neonatal

Genetic Tests for Hyperparathyroidism, Neonatal

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Anatomical Context for Hyperparathyroidism, Neonatal

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34MalaCards
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MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

34
Bone, Liver

Animal Models for Hyperparathyroidism, Neonatal or affiliated genes

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Publications for Hyperparathyroidism, Neonatal

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Variations for Hyperparathyroidism, Neonatal

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Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism, Neonatal:

65
id Symbol AA change Variation ID SNP ID
1CASRp.Arg62MetVAR_003586
2CASRp.Arg227LeuVAR_003594rs28936684
3CASRp.Glu297LysVAR_003596
4CASRp.Cys582TyrVAR_003597
5CASRp.Gly670GluVAR_058073

Expression for genes affiliated with Hyperparathyroidism, Neonatal

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperparathyroidism, Neonatal

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

Pathways for genes affiliated with Hyperparathyroidism, Neonatal

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Compounds for genes affiliated with Hyperparathyroidism, Neonatal

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GO Terms for genes affiliated with Hyperparathyroidism, Neonatal

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Products for genes affiliated with Hyperparathyroidism, Neonatal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperparathyroidism, Neonatal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet