MCID: HYP315
MIFTS: 30

Hyperparathyroidism, Neonatal malady

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

Aliases & Classifications for Hyperparathyroidism, Neonatal

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all MalaCards sources

Aliases & Descriptions for Hyperparathyroidism, Neonatal:

Name: Hyperparathyroidism, Neonatal 49 11
Nshpt 22 47 51 67
Neonatal Severe Primary Hyperparathyroidism 22 51 67
Hyperparathyroidism, Neonatal Severe 67 24 65
 
Neonatal Severe Hyperparathyroidism 45
Nhpt 67
Nsph 67

Characteristics:

Orphanet epidemiological data:

51
nshpt:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood

Classifications:



External Ids:

OMIM49 239200
Orphanet51 417
ICD10 via Orphanet28 E21.0
MedGen34 C1832645
MeSH36 D049950
UMLS65 C1832615

Summaries for Hyperparathyroidism, Neonatal

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OMIM:49 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 goiter and kidney disease, and has symptoms including abnormality of calcium-phosphate metabolism, abnormal renal physiology and short stature. An important gene associated with Hyperparathyroidism, Neonatal is CASR (Calcium Sensing Receptor). Affiliated tissues include bone and liver, and related mouse phenotypes are digestive/alimentary and muscle.

UniProtKB/Swiss-Prot:67 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 the top 20 diseases related to Hyperparathyroidism, Neonatal:



Diseases related to hyperparathyroidism, neonatal

Symptoms for Hyperparathyroidism, Neonatal

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Symptoms by clinical synopsis from OMIM:

239200

Clinical features from OMIM:

239200

Symptoms:

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

HPO human phenotypes related to Hyperparathyroidism, Neonatal:

(show all 33)
id Description Frequency HPO Source Accession
1 abnormality of calcium-phosphate metabolism hallmark (90%) HP:0100530
2 abnormal renal physiology hallmark (90%) HP:0012211
3 short stature hallmark (90%) HP:0004322
4 aminoaciduria hallmark (90%) HP:0003355
5 recurrent fractures hallmark (90%) HP:0002757
6 hepatomegaly hallmark (90%) HP:0002240
7 splenomegaly hallmark (90%) HP:0001744
8 muscular hypotonia hallmark (90%) HP:0001252
9 abnormality of the metaphyses hallmark (90%) HP:0000944
10 hyperparathyroidism hallmark (90%) HP:0000843
11 narrow chest hallmark (90%) HP:0000774
12 feeding difficulties in infancy HP:0008872
13 primary hyperparathyroidism HP:0008200
14 calcinosis HP:0003761
15 aminoaciduria HP:0003355
16 elevated circulating parathyroid hormone (pth) level HP:0003165
17 hyperphosphaturia HP:0003109
18 hypercalcemia HP:0003072
19 metaphyseal irregularity HP:0003025
20 tachypnea HP:0002789
21 recurrent fractures HP:0002757
22 hepatomegaly HP:0002240
23 hypercalciuria HP:0002150
24 hypophosphatemia HP:0002148
25 dyspnea HP:0002094
26 constipation HP:0002019
27 polydipsia HP:0001959
28 anemia HP:0001903
29 splenomegaly HP:0001744
30 failure to thrive HP:0001508
31 muscular hypotonia HP:0001252
32 narrow chest HP:0000774
33 polyuria HP:0000103

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 Primary Hyperparathyroidism22 CASR

Anatomical Context for Hyperparathyroidism, Neonatal

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MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

33
Bone, Liver

Animal Models for Hyperparathyroidism, Neonatal or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism, Neonatal:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8CASR, CXADR, PRKAR1A
2MP:00053698.8CASR, CXADR, PRKAR1A
3MP:00053847.9CASR, CXADR, NR1I3, PRKAR1A
4MP:00053767.7CASR, CXADR, NR1I3, PRKAR1A

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:

67
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)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
2CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
3CASRCASR, ALU INS, CODON 877insertionPathogenic
4CASRNM_000388.3(CASR): c.680G> T (p.Arg227Leu)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
5CASRNM_000388.3(CASR): c.1745G> A (p.Cys582Tyr)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
6CASRNM_000388.3(CASR): c.2241_2242delinsTindelPathogenic
7CASRNM_000388.3(CASR): c.2009G> A (p.Gly670Glu)single nucleotide variantPathogenicrs104893700GRCh37Chr 3, 122002810: 122002810
8CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
9CASRNM_000388.3(CASR): c.186-1G> Tsingle nucleotide variantPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
10CASRNM_000388.3(CASR): c.553C> T (p.Arg185Ter)single nucleotide variantPathogenicrs104893707GRCh37Chr 3, 121980435: 121980435
11CASRNM_000388.3(CASR): c.280G> T (p.Gly94Ter)single nucleotide variantPathogenicrs104893709GRCh37Chr 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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Sources for Hyperparathyroidism, Neonatal

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet