MCID: HYP315
MIFTS: 28

Hyperparathyroidism, Neonatal malady

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

Aliases & Classifications for Hyperparathyroidism, Neonatal

About this section
Sources:
50OMIM, 12diseasecard, 68UniProtKB/Swiss-Prot, 66UMLS, 46NIH Rare Diseases, 25GTR, 23GeneTests, 52Orphanet, 48Novoseek, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

Aliases & Descriptions for Hyperparathyroidism, Neonatal:

Name: Hyperparathyroidism, Neonatal 50 12
Nshpt 23 52 68 48
Neonatal Severe Primary Hyperparathyroidism 23 52 68
Hyperparathyroidism, Neonatal Severe 50 68 66
 
Neonatal Severe Hyperparathyroidism 46 25
Nhpt 68
Nsph 68

Characteristics:

Orphanet epidemiological data:

52
nshpt:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood

Classifications:



External Ids:

OMIM50 239200
Orphanet52 ORPHA417
ICD10 via Orphanet29 E21.0
MedGen35 C1832645
MeSH37 D049950

Summaries for Hyperparathyroidism, Neonatal

About this section
OMIM:50 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 primary hyperparathyroidism and hyperparathyroidism, 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.

UniProtKB/Swiss-Prot:68 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperparathyroidism10.1
2hyperparathyroidism10.1
3familial hypocalciuric hypercalcemia9.9

Symptoms for Hyperparathyroidism, Neonatal

About this section

Symptoms by clinical synopsis from OMIM:

239200

Clinical features from OMIM:

239200

Symptoms:

 52 (show all 10)
  • narrow chest
  • abnormality of the metaphyses
  • hepatomegaly
  • recurrent fractures
  • abnormality of calcium-phosphate metabolism
  • abnormality of the thyroid gland
  • muscular hypotonia
  • splenomegaly
  • aminoaciduria
  • short stature

HPO human phenotypes related to Hyperparathyroidism, Neonatal:

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

Drugs & Therapeutics for Hyperparathyroidism, Neonatal

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperparathyroidism, Neonatal

Genetic Tests for Hyperparathyroidism, Neonatal

About this section

Genetic tests related to Hyperparathyroidism, Neonatal:

id Genetic test Affiliating Genes
1 Neonatal Severe Hyperparathyroidism25
2 Neonatal Severe Primary Hyperparathyroidism23 CASR

Anatomical Context for Hyperparathyroidism, Neonatal

About this section

MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

34
Bone, Thyroid

Animal Models for Hyperparathyroidism, Neonatal or affiliated genes

About this section

Publications for Hyperparathyroidism, Neonatal

About this section

Variations for Hyperparathyroidism, Neonatal

About this section

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

68
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_2242delCCinsT (p.Ser749Glnfs)indelPathogenicrs869320729GRCh37Chr 3, 122003042: 122003043
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

About this section
Search GEO for disease gene expression data for Hyperparathyroidism, Neonatal.

Pathways for genes affiliated with Hyperparathyroidism, Neonatal

About this section

GO Terms for genes affiliated with Hyperparathyroidism, Neonatal

About this section

Sources for Hyperparathyroidism, Neonatal

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet