MCID: HYP315
MIFTS: 28

Hyperparathyroidism, Neonatal malady

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

Aliases & Classifications for Hyperparathyroidism, Neonatal

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 61UMLS, 20GeneTests, 48Orphanet, 22GTR, 44Novoseek, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Hyperparathyroidism, Neonatal:

Name: Hyperparathyroidism, Neonatal 46 9
Neonatal Severe Primary Hyperparathyroidism 42 20 48 22
Nshpt 42 44 48
 
Hyperparathyroidism, Neonatal Severe Primary 42 61
Hyperparathyroidism, Neonatal Severe 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
neonatal severe primary hyperparathyroidism:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood


External Ids:

OMIM46 239200
Orphanet48 417
ICD10 via Orphanet26 E21.0

Summaries for Hyperparathyroidism, Neonatal

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OMIM:46 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.

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
1familial hypocalciuric hypercalcemia10.4
2hyperparathyroidism10.3
3alkaptonuria10.2
4primary hyperparathyroidism10.2
5mental retardation10.1
6hypercalcemia10.0

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:

 48 (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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Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism, Neonatal

Search 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 Hyperparathyroidism20 CASR
2 Hyperparathyroidism, Neonatal Severe22
3 Hyperparathyroidism, Neonatal Severe Primary22

Anatomical Context for Hyperparathyroidism, Neonatal

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MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

31
Bone, Liver

Animal Models for Hyperparathyroidism, Neonatal or affiliated genes

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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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet