MCID: HYP315
MIFTS: 39

Hyperparathyroidism, Neonatal malady

Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Hyperparathyroidism, Neonatal

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

Aliases & Descriptions for Hyperparathyroidism, Neonatal:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
neonatal severe primary hyperparathyroidism:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood


External Ids:

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

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 neonatal severe primary hyperparathyroidism, is related to familial hypocalciuric hypercalcemia 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 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 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 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 (pth) 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

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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
2 Hyperparathyroidism, Neonatal Severe24
3 Hyperparathyroidism, Neonatal Severe Primary24

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:00053819.0CASR, CXADR, PRKAR1A
2MP:00053698.9CASR, CXADR, PRKAR1A
3MP:00053798.8CASR, CXADR, PRKAR1A
4MP:00053848.1CASR, CXADR, NR1I3, PRKAR1A
5MP:00107688.0CASR, CXADR, NR1I3, PRKAR1A
6MP: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

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:00315949.3CXADR, PRKAR1A

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
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