NSHPT
MCID: HYP315
MIFTS: 35

Hyperparathyroidism, Neonatal (NSHPT) malady

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

Aliases & Classifications for Hyperparathyroidism, Neonatal

Aliases & Descriptions for Hyperparathyroidism, Neonatal:

Name: Hyperparathyroidism, Neonatal 54 13
Nshpt 24 56 66 52
Neonatal Severe Primary Hyperparathyroidism 24 56 66
Hyperparathyroidism, Neonatal Severe 54 66 69
Neonatal Severe Hyperparathyroidism 50 29
Nhpt 66
Nsph 66

Characteristics:

Orphanet epidemiological data:

56
neonatal severe primary hyperparathyroidism
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood;

Classifications:



External Ids:

OMIM 54 239200
Orphanet 56 ORPHA417
ICD10 via Orphanet 34 E21.0
MedGen 40 C1832645
MeSH 42 D049950

Summaries for Hyperparathyroidism, Neonatal

OMIM : 54 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 familial chronic myelocytic leukemia-like syndrome and jessner's lymphocytic infiltration of the skin, and has symptoms including muscular hypotonia, splenomegaly and hepatomegaly. An important gene associated with Hyperparathyroidism, Neonatal is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways is Ca, cAMP and Lipid Signaling. Affiliated tissues include bone and thyroid, and related phenotypes are cellular and digestive/alimentary

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Hyperparathyroidism, Neonatal:



Diseases related to Hyperparathyroidism, Neonatal

Symptoms & Phenotypes for Hyperparathyroidism, Neonatal

Symptoms by clinical synopsis from OMIM:

239200

Clinical features from OMIM:

239200

Human phenotypes related to Hyperparathyroidism, Neonatal:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
2 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
3 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
4 short stature 56 32 Very frequent (99-80%) HP:0004322
5 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
6 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
7 narrow chest 56 32 Very frequent (99-80%) HP:0000774
8 recurrent fractures 56 32 Very frequent (99-80%) HP:0002757
9 abnormality of calcium-phosphate metabolism 56 32 Very frequent (99-80%) HP:0100530
10 abnormality of the thyroid gland 56 32 Very frequent (99-80%) HP:0000820
11 constipation 32 HP:0002019
12 dyspnea 32 HP:0002094
13 polyuria 32 HP:0000103
14 polydipsia 32 HP:0001959
15 failure to thrive 32 HP:0001508
16 feeding difficulties in infancy 32 HP:0008872
17 hypophosphatemia 32 HP:0002148
18 anemia 32 HP:0001903
19 hypercalciuria 32 HP:0002150
20 hypercalcemia 32 HP:0003072
21 elevated circulating parathyroid hormone level 32 HP:0003165
22 tachypnea 32 HP:0002789
23 metaphyseal irregularity 32 HP:0003025
24 hyperphosphaturia 32 HP:0003109
25 primary hyperparathyroidism 32 HP:0008200
26 calcinosis 32 HP:0003761

MGI Mouse Phenotypes related to Hyperparathyroidism, Neonatal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.46 CASR CXADR NR1I3 PRKAR1A
2 digestive/alimentary MP:0005381 9.13 PRKAR1A CASR CXADR
3 muscle MP:0005369 8.8 CASR CXADR PRKAR1A

Drugs & Therapeutics for Hyperparathyroidism, Neonatal

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism, Neonatal

Genetic Tests for Hyperparathyroidism, Neonatal

Genetic tests related to Hyperparathyroidism, Neonatal:

id Genetic test Affiliating Genes
1 Neonatal Severe Hyperparathyroidism 29
2 Neonatal Severe Primary Hyperparathyroidism 24 CASR

Anatomical Context for Hyperparathyroidism, Neonatal

MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:

39
Bone, Thyroid

Publications for Hyperparathyroidism, Neonatal

Variations for Hyperparathyroidism, Neonatal

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

66
id Symbol AA change Variation ID SNP ID
1 CASR p.Arg227Leu VAR_003594 rs28936684
2 CASR p.Cys582Tyr VAR_003597
3 CASR p.Gly670Glu VAR_058073
4 CASR p.Thr100Ile VAR_065199
5 CASR p.Leu650Pro VAR_065202
6 CASR p.Val689Met VAR_065203
7 CASR p.Arg551Lys VAR_078163

ClinVar genetic disease variations for Hyperparathyroidism, Neonatal:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.889G> A (p.Glu297Lys) single nucleotide variant Pathogenic rs121909259 GRCh37 Chromosome 3, 121980771: 121980771
2 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh37 Chromosome 3, 121980436: 121980436
3 CASR CASR, ALU INS, CODON 877 insertion Pathogenic
4 CASR NM_000388.3(CASR): c.680G> T (p.Arg227Leu) single nucleotide variant Pathogenic rs28936684 GRCh37 Chromosome 3, 121980562: 121980562
5 CASR NM_000388.3(CASR): c.2241_2242delCCinsT (p.Ser749Glnfs) indel Pathogenic rs869320729 GRCh37 Chromosome 3, 122003042: 122003043
6 CASR NM_000388.3(CASR): c.2009G> A (p.Gly670Glu) single nucleotide variant Pathogenic rs104893700 GRCh37 Chromosome 3, 122002810: 122002810
7 CASR NM_000388.3(CASR): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs104893705 GRCh37 Chromosome 3, 122002743: 122002743
8 CASR NM_000388.3(CASR): c.186-1G> T single nucleotide variant Pathogenic rs797044441 GRCh37 Chromosome 3, 121975927: 121975927
9 CASR NM_000388.3(CASR): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs104893707 GRCh37 Chromosome 3, 121980435: 121980435
10 CASR NM_000388.3(CASR): c.280G> T (p.Gly94Ter) single nucleotide variant Pathogenic rs104893709 GRCh37 Chromosome 3, 121976022: 121976022

Expression for Hyperparathyroidism, Neonatal

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

Pathways for Hyperparathyroidism, Neonatal

Pathways related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.72 CASR PRKAR1A

GO Terms for Hyperparathyroidism, Neonatal

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

id Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 8.62 CASR CXADR

Biological processes related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 8.62 CXADR PRKAR1A

Molecular functions related to Hyperparathyroidism, Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 CASR CXADR

Sources for Hyperparathyroidism, Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....