NSHPT
MCID: HYP315
MIFTS: 24

Hyperparathyroidism, Neonatal (NSHPT) malady

Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Hyperparathyroidism, Neonatal

About this section


Fully expand this MalaCard
MalaCards based summary: Hyperparathyroidism, Neonatal, also known as hyperparathyroidism, neonatal severe primary, is related to familial hypocalciuric hypercalcemia and hyperparathyroidism, and has symptoms including narrow rib cage/thorax, hepatomegaly/liver enlargement (excluding storage disease) and splenomegaly. An important gene associated with Hyperparathyroidism, Neonatal is CASR (calcium-sensing receptor). Affiliated tissues include bone and liver.

Description from OMIM:46 239200

Aliases & Classifications for Hyperparathyroidism, Neonatal

About this section
Sources:
62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Hyperparathyroidism, Neonatal, Aliases & Descriptions:

Name: Hyperparathyroidism, Neonatal 46
Hyperparathyroidism, Neonatal Severe Primary 62
 
Neonatal Severe Primary Hyperparathyroidism 48
Nshpt 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
neonatal severe primary hyperparathyroidism:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

OMIM46 239200
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism, Neonatal

About this section

Diseases in the Hyperparathyroidism, Neonatal family:

Hyperparathyroidism, Neonatal Severe Primary

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

idRelated DiseaseScoreTop Affiliating Genes
1familial hypocalciuric hypercalcemia10.4
2hyperparathyroidism10.4
3hyperparathyroidism, neonatal severe primary10.3
4alkaptonuria10.2
5primary hyperparathyroidism10.2
6mental retardation10.1
7hypercalcemia10.0

Graphical network of diseases related to Hyperparathyroidism, Neonatal:



Diseases related to hyperparathyroidism, neonatal

Symptoms for Hyperparathyroidism, Neonatal

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism, Neonatal

Search NIH Clinical Center for Hyperparathyroidism, Neonatal

Genetic Tests for Hyperparathyroidism, Neonatal

About this section

Anatomical Context for Hyperparathyroidism, Neonatal

About this section

MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

32
Bone, Liver

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:

64
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

About this section
Expression patterns in normal tissues for genes affiliated with Hyperparathyroidism, Neonatal

Search GEO for disease gene expression data for Hyperparathyroidism, Neonatal.

Pathways for genes affiliated with Hyperparathyroidism, Neonatal

About this section

Compounds for genes affiliated with Hyperparathyroidism, Neonatal

About this section

GO Terms for genes affiliated with Hyperparathyroidism, Neonatal

About this section

Products for genes affiliated with Hyperparathyroidism, Neonatal

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hyperparathyroidism, Neonatal

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet