MCID: HYP315
MIFTS: 33

Hyperparathyroidism, Neonatal 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 hyperparathyroidism and immunodeficiency, common variable, 5, and has symptoms including narrow chest, hyperparathyroidism and abnormality of the metaphyses. An important gene associated with Hyperparathyroidism, Neonatal is CASR (Calcium Sensing Receptor). 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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Diseases related to Hyperparathyroidism, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism9.9
2immunodeficiency, common variable, 59.7CASR, PRKAR1A
3familial cervical artery dissection9.6CASR, PRKAR1A
4familial bilateral striatal necrosis9.5CASR, CXADR
5epilepsy idiopathic generalized 89.3CASR, CXADR, PRKAR1A
6silver-russell syndrome due to 7p11.2p13 microduplication9.1CASR, NR1I3, PRKAR1A

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:

 64 54 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow chest64 54 hallmark (90%) Very frequent (99-80%) HP:0000774
2 hyperparathyroidism64 hallmark (90%) HP:0000843
3 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
4 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
5 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
6 hepatomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002240
7 recurrent fractures64 54 hallmark (90%) Very frequent (99-80%) HP:0002757
8 aminoaciduria64 54 hallmark (90%) Very frequent (99-80%) HP:0003355
9 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
10 abnormal renal physiology64 hallmark (90%) HP:0012211
11 abnormality of calcium-phosphate metabolism64 54 hallmark (90%) Very frequent (99-80%) HP:0100530
12 polyuria64 HP:0000103
13 failure to thrive64 HP:0001508
14 anemia64 HP:0001903
15 polydipsia64 HP:0001959
16 constipation64 HP:0002019
17 dyspnea64 HP:0002094
18 hypophosphatemia64 HP:0002148
19 hypercalciuria64 HP:0002150
20 tachypnea64 HP:0002789
21 metaphyseal irregularity64 HP:0003025
22 hypercalcemia64 HP:0003072
23 hyperphosphaturia64 HP:0003109
24 elevated circulating parathyroid hormone level64 HP:0003165
25 calcinosis64 HP:0003761
26 primary hyperparathyroidism64 HP:0008200
27 feeding difficulties in infancy64 HP:0008872
28 abnormality of the thyroid gland54 Very frequent (99-80%)

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.6CASR, CXADR, PRKAR1A
2MP:00053698.8CASR, CXADR, PRKAR1A
3MP:00053848.8CASR, CXADR, NR1I3, PRKAR1A
4MP:00053768.7CASR, 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.Arg62MetVAR_003586
2CASRp.Arg227LeuVAR_003594rs28936684
3CASRp.Glu297LysVAR_003596
4CASRp.Cys582TyrVAR_003597
5CASRp.Gly670GluVAR_058073

Clinvar genetic disease variations for Hyperparathyroidism, Neonatal:

5 (show all 11)
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 877insertionPathogenicChr na, -1: -1
4CASRNM_000388.3(CASR): c.680G> T (p.Arg227Leu)SNVPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
5CASRNM_000388.3(CASR): c.1745G> A (p.Cys582Tyr)SNVPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
6CASRNM_000388.3(CASR): c.2241_2242delCCinsT (p.Ser749Glnfs)indelPathogenicrs869320729GRCh37Chr 3, 122003042: 122003043
7CASRNM_000388.3(CASR): c.2009G> A (p.Gly670Glu)SNVPathogenicrs104893700GRCh37Chr 3, 122002810: 122002810
8CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)SNVPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
9CASRNM_000388.3(CASR): c.186-1G> TSNVPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
10CASRNM_000388.3(CASR): c.553C> T (p.Arg185Ter)SNVPathogenicrs104893707GRCh37Chr 3, 121980435: 121980435
11CASRNM_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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GO Terms for genes affiliated with Hyperparathyroidism, Neonatal

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

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

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