NSHPT
MCID: HYP315
MIFTS: 35

Hyperparathyroidism, Neonatal (NSHPT) malady

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

Aliases & Classifications for Hyperparathyroidism, Neonatal

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hyperparathyroidism, Neonatal:

Name: Hyperparathyroidism, Neonatal 52 12
Nshpt 24 54 70 50
Neonatal Severe Primary Hyperparathyroidism 24 54 70
Hyperparathyroidism, Neonatal Severe 52 70 68
 
Neonatal Severe Hyperparathyroidism 48 27
Nhpt 70
Nsph 70

Characteristics:

Orphanet epidemiological data:

54
nshpt:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood

Classifications:



External Ids:

OMIM52 239200
Orphanet54 ORPHA417
ICD10 via Orphanet31 E21.0
MedGen37 C1832645
MeSH39 D049950

Summaries for Hyperparathyroidism, Neonatal

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OMIM:52 Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone... (239200) more...

MalaCards based summary: Hyperparathyroidism, Neonatal, also known as NSHPT, is related to familial chronic myelocytic leukemia-like syndrome and jessner's lymphocytic infiltration of the skin, and has symptoms including Array, Array and Array. An important gene associated with Hyperparathyroidism, Neonatal is CASR (Calcium Sensing Receptor), and among its related pathways is Ca, cAMP and Lipid Signaling. Affiliated tissues include bone and thyroid, and related mouse phenotypes are digestive/alimentary and muscle.

UniProtKB/Swiss-Prot:70 Hyperparathyroidism, neonatal severe: A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.

Related Diseases for Hyperparathyroidism, Neonatal

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Graphical network of diseases related to Hyperparathyroidism, Neonatal:



Diseases related to hyperparathyroidism, neonatal

Symptoms & Phenotypes for Hyperparathyroidism, Neonatal

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Symptoms by clinical synopsis from OMIM:

239200

Clinical features from OMIM:

239200

Human phenotypes related to Hyperparathyroidism, Neonatal:

 54 64 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow chest64 54 Very frequent (99-80%) HP:0000774
2 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
3 hepatomegaly64 54 Very frequent (99-80%) HP:0002240
4 recurrent fractures64 54 Very frequent (99-80%) HP:0002757
5 abnormality of calcium-phosphate metabolism64 54 Very frequent (99-80%) HP:0100530
6 abnormality of the thyroid gland64 54 Very frequent (99-80%) HP:0000820
7 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
8 splenomegaly64 54 Very frequent (99-80%) HP:0001744
9 aminoaciduria64 54 Very frequent (99-80%) HP:0003355
10 short stature64 54 Very frequent (99-80%) HP:0004322
11 polyuria64 HP:0000103
12 failure to thrive64 HP:0001508
13 anemia64 HP:0001903
14 polydipsia64 HP:0001959
15 constipation64 HP:0002019
16 dyspnea64 HP:0002094
17 hypophosphatemia64 HP:0002148
18 hypercalciuria64 HP:0002150
19 tachypnea64 HP:0002789
20 metaphyseal irregularity64 HP:0003025
21 hypercalcemia64 HP:0003072
22 hyperphosphaturia64 HP:0003109
23 elevated circulating parathyroid hormone level64 HP:0003165
24 calcinosis64 HP:0003761
25 primary hyperparathyroidism64 HP:0008200
26 feeding difficulties in infancy64 HP:0008872

MGI Mouse Phenotypes related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.5CASR, CXADR, PRKAR1A
2MP:00053698.8CASR, CXADR, PRKAR1A
3MP:00053848.7CASR, CXADR, NR1I3, PRKAR1A

Drugs & Therapeutics for Hyperparathyroidism, Neonatal

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperparathyroidism, Neonatal

Genetic Tests for Hyperparathyroidism, Neonatal

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Genetic tests related to Hyperparathyroidism, Neonatal:

id Genetic test Affiliating Genes
1 Neonatal Severe Hyperparathyroidism27
2 Neonatal Severe Primary Hyperparathyroidism24 CASR

Anatomical Context for Hyperparathyroidism, Neonatal

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MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

36
Bone, Thyroid

Publications for Hyperparathyroidism, Neonatal

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Variations for Hyperparathyroidism, Neonatal

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

70
id Symbol AA change Variation ID SNP ID
1CASRp.Arg227LeuVAR_003594rs28936684
2CASRp.Cys582TyrVAR_003597
3CASRp.Gly670GluVAR_058073
4CASRp.Thr100IleVAR_065199
5CASRp.Leu650ProVAR_065202
6CASRp.Val689MetVAR_065203
7CASRp.Arg551LysVAR_078163

Clinvar genetic disease variations for Hyperparathyroidism, Neonatal:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_ 000388.3(CASR): c.889G> A (p.Glu297Lys)SNVPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
2CASRNM_ 000388.3(CASR): c.554G> A (p.Arg185Gln)SNVPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
3CASRCASR, ALU INS, CODON 877insertionPathogenic
4CASRNM_ 000388.3(CASR): c.680G> T (p.Arg227Leu)SNVPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
5CASRNM_ 000388.3(CASR): c.2241_ 2242delCCinsT (p.Ser749Glnfs)indelPathogenicrs869320729GRCh37Chr 3, 122003042: 122003043
6CASRNM_ 000388.3(CASR): c.2009G> A (p.Gly670Glu)SNVPathogenicrs104893700GRCh37Chr 3, 122002810: 122002810
7CASRNM_ 000388.3(CASR): c.1942C> T (p.Arg648Ter)SNVPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
8CASRNM_ 000388.3(CASR): c.186-1G> TSNVPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
9CASRNM_ 000388.3(CASR): c.553C> T (p.Arg185Ter)SNVPathogenicrs104893707GRCh37Chr 3, 121980435: 121980435
10CASRNM_ 000388.3(CASR): c.280G> T (p.Gly94Ter)SNVPathogenicrs104893709GRCh37Chr 3, 121976022: 121976022

Expression for genes affiliated with Hyperparathyroidism, Neonatal

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

Pathways for genes affiliated with Hyperparathyroidism, Neonatal

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Pathways related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CASR, PRKAR1A

GO Terms for genes affiliated with Hyperparathyroidism, Neonatal

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Cellular components related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.4CASR, CXADR

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

idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:00075079.3CXADR, PRKAR1A

Molecular functions related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.4CASR, CXADR

Sources for Hyperparathyroidism, Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet