NSHPT
MCID: HYP315
MIFTS: 23

Hyperparathyroidism, Neonatal (NSHPT) malady

Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Hyperparathyroidism, Neonatal

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46OMIM, 32MalaCards
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MalaCards: Hyperparathyroidism, Neonatal, also known as hyperparathyroidism, neonatal severe primary, is related to hyperparathyroidism, neonatal severe primary, 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:46 239200

Aliases & Classifications for Hyperparathyroidism, Neonatal

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Sources:
60UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
neonatal severe primary hyperparathyroidism:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

hyperparathyroidism, neonatal 46
hyperparathyroidism, neonatal severe primary 60
neonatal severe primary hyperparathyroidism 48
nshpt 48


External Ids:

OMIM46 239200
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism, Neonatal

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Sources:
17GeneCards, 18GeneDecks
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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
1hyperparathyroidism, neonatal severe primary10.3

Clinical Features for Hyperparathyroidism, Neonatal

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

239200

Clinical synopsis from OMIM:

239200

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

32
Bone, Liver

Animal Models for Hyperparathyroidism, Neonatal or affiliated genes

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Publications for Hyperparathyroidism, Neonatal

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Genetic Variations for Hyperparathyroidism, Neonatal

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperparathyroidism, Neonatal:

62
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:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet