NSHPT
MCID: HYP776
MIFTS: 42

Hyperparathyroidism, Neonatal Severe (NSHPT)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism, Neonatal Severe

MalaCards integrated aliases for Hyperparathyroidism, Neonatal Severe:

Name: Hyperparathyroidism, Neonatal Severe 58 76 74
Nshpt 58 60 76 56
Neonatal Severe Hyperparathyroidism 54 30 6
Neonatal Severe Primary Hyperparathyroidism 60 76
Hyperparathyroidism, Neonatal 58 13
Neonatal Hyperparathyroidism 38 74
Nsph 58 76
Nhpt 58 76
Hyperparathyroidism, Neonatal Severe Primary 58
Hyperparathyroidism, Severe, Neonatal 41
Nsph; Nhpt 58

Characteristics:

Orphanet epidemiological data:

60
neonatal severe primary hyperparathyroidism
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant (de novo in some patients)


HPO:

33
hyperparathyroidism, neonatal severe:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hyperparathyroidism, Neonatal Severe

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 417Disease definitionNeonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.EpidemiologyThe prevalence is unknown.Clinical descriptionThe clinical manifestations are early (with onset occurring during the first days of life) and severe, including respiratory distress due to hypotonia and rib cage deformities, bone under mineralization, and multiple fractures, all of which influence the immediate vital prognosis.EtiologyNSHPT is associated in most cases with homozygous inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR), a member of the subfamily of G protein-coupled transmembrane receptors. CaSR plays a key role in the regulation of phosphocalcic metabolism by controlling parathyroid hormone (PTH) secretion and calcium urinary excretion in response to variations in serum calcium levels.Diagnostic methodsBiologically, children present with extremely high serum calcium and serum PTH levels and a relative hypocalciuria, but in some cases they present with a markedly elevated calciuria.Differential diagnosis'Familial hypocalciuric hypercalcemia (FHH; see this term) is a differential diagnosis. Hypercalcemia is usually milder and PTH levels are lower in FHH than in NSHPT and FHH is asymptomatic in most cases.'Antenatal diagnosisPrenatal diagnosis might be proposed to parents if they are both suffering from FHH.Genetic counselingNSHPT represents the homozygous form of FHH and is transmitted as an autosomal recessivetrait. However, sporadic forms of NSHPT occur and are associated with a heterozygousde novo mutation in the CASR gene. To date, there have been no reports of severe neonatal hyperparathyroidism with homozygous mutations in those with FHH type 2 or 3 (see these terms) but their molecular identification is still too recent to make any definite conclusions.Management and treatmentThe control of hypercalcemia is often obtained through progressive therapeutic intervention involving the use of bisphosphonates, dialysis or even calcimimetics. If this is unsuccessful, a total parathyroidectomy is required. After parathyroidectomy, life-long treatment with 1-alpha hydoxylated vitamin D is required.PrognosisPatients can die from complications of hypercalcemia during the neonatal period from respiratory distress and dramatic hypercalcemia.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperparathyroidism, Neonatal Severe, also known as nshpt, is related to hypocalcemia, autosomal dominant 1 and hyperparathyroidism, and has symptoms including constipation, polydipsia and dyspnea. An important gene associated with Hyperparathyroidism, Neonatal Severe 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 muscular hypotonia and splenomegaly

OMIM : 58 Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008). (239200)

UniProtKB/Swiss-Prot : 76 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 Severe

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



Diseases related to Hyperparathyroidism, Neonatal Severe

Symptoms & Phenotypes for Hyperparathyroidism, Neonatal Severe

Human phenotypes related to Hyperparathyroidism, Neonatal Severe:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 aminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003355
6 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
7 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
8 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
9 abnormality of the thyroid gland 60 33 hallmark (90%) Very frequent (99-80%) HP:0000820
10 abnormality level of calcium-phosphate regulating hormone 33 hallmark (90%) HP:0100530
11 failure to thrive 33 HP:0001508
12 constipation 33 HP:0002019
13 feeding difficulties in infancy 33 HP:0008872
14 polydipsia 33 HP:0001959
15 hypophosphatemia 33 HP:0002148
16 dyspnea 33 HP:0002094
17 anemia 33 HP:0001903
18 hypercalciuria 33 HP:0002150
19 abnormality of calcium-phosphate metabolism 60 Very frequent (99-80%)
20 hypercalcemia 33 HP:0003072
21 elevated circulating parathyroid hormone level 33 HP:0003165
22 generalized hypotonia 33 HP:0001290
23 tachypnea 33 HP:0002789
24 metaphyseal irregularity 33 HP:0003025
25 hyperphosphaturia 33 HP:0003109
26 primary hyperparathyroidism 33 HP:0008200
27 calcinosis 33 HP:0003761
28 polyuria 33 HP:0000103

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypophosphatemia
aminoaciduria
hypercalciuria
hypercalcemia
hyperphosphaturia
more
Hematology:
anemia

Neurologic Central Nervous System:
hypotonia

Skeletal:
multiple fractures
irregular metaphyses
demineralization

Abdomen Gastrointestinal:
constipation
polydipsia
poor feeding

Abdomen Liver:
hepatomegaly

Respiratory:
dyspnea
tachypnea

Chest External Features:
narrow chest

Genitourinary Kidneys:
polyuria
renal calcinosis

Endocrine Features:
neonatal primary hyperparathyroidism

Clinical features from OMIM:

239200

UMLS symptoms related to Hyperparathyroidism, Neonatal Severe:


constipation, polydipsia, dyspnea, polyuria

GenomeRNAi Phenotypes related to Hyperparathyroidism, Neonatal Severe according to GeneCards Suite gene sharing:

27 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.19 PRKAR1A TRPV6 CASR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.19 TRPV6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.19 PRKAR1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.19 CASR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.19 CASR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.19 PRKAR1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.19 TRPV6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.19 PRKAR1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.19 CASR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.19 PRKAR1A TRPV6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.19 TRPV6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.19 TRPV6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.19 TRPV6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.19 PRKAR1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.19 TRPV6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.19 TRPV6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.19 PRKAR1A TRPV6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.19 TRPV6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.19 TRPV6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.19 PRKAR1A TRPV6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.19 PRKAR1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.19 CASR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.19 TRPV6
24 Decreased viability GR00221-A-1 10.1 NR1I3 PRKAR1A TRPV6
25 Decreased viability GR00221-A-2 10.1 NR1I3 PRKAR1A TRPV6
26 Decreased viability GR00221-A-3 10.1 PRKAR1A TRPV6
27 Decreased viability GR00221-A-4 10.1 PRKAR1A TRPV6
28 Decreased viability GR00301-A 10.1 NR1I3
29 Decreased viability GR00402-S-2 10.1 NR1I3 PRKAR1A TRPV6

MGI Mouse Phenotypes related to Hyperparathyroidism, Neonatal Severe:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 CASR CXADR NR1I3 PRKAR1A TRPV6

Drugs & Therapeutics for Hyperparathyroidism, Neonatal Severe

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism, Neonatal Severe

Genetic Tests for Hyperparathyroidism, Neonatal Severe

Genetic tests related to Hyperparathyroidism, Neonatal Severe:

# Genetic test Affiliating Genes
1 Neonatal Severe Hyperparathyroidism 30 CASR

Anatomical Context for Hyperparathyroidism, Neonatal Severe

MalaCards organs/tissues related to Hyperparathyroidism, Neonatal Severe:

42
Bone, Thyroid

Publications for Hyperparathyroidism, Neonatal Severe

Articles related to Hyperparathyroidism, Neonatal Severe:

(show all 30)
# Title Authors Year
1
Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism. ( 30641521 )
2019
2
Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. ( 30665551 )
2018
3
Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review. ( 30407334 )
2018
4
Neonatal severe hyperparathyroidism secondary to a novel homozygous CASR gene mutation. ( 29354167 )
2017
5
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia. ( 26855056 )
2016
6
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. ( 26161261 )
2015
7
Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism. ( 25828954 )
2015
8
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. ( 24203066 )
2014
9
A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. ( 24854525 )
2014
10
Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet. ( 24735972 )
2014
11
Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy. ( 24763815 )
2014
12
Molecular and clinical analysis of a neonatal severe hyperparathyroidism case caused by a stop mutation in the calcium-sensing receptor extracellular domain representing in effect a human 'knockout'. ( 23612447 )
2013
13
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). ( 21468522 )
2011
14
Neonatal severe hyperparathyroidism: further clinical and molecular delineation. ( 20972686 )
2011
15
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. ( 17555508 )
2007
16
A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism. ( 16509534 )
2006
17
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. ( 15241688 )
2004
18
Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. ( 15292296 )
2004
19
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. ( 15241791 )
2004
20
[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor]. ( 11857921 )
2002
21
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. ( 11668634 )
2001
22
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families. ( 10885494 )
2000
23
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. ( 11013439 )
2000
24
Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. ( 9217223 )
1997
25
Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. ( 9253359 )
1997
26
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. ( 9109436 )
1997
27
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. ( 7493018 )
1995
28
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. ( 7717399 )
1995
29
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. ( 8132750 )
1994
30
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. ( 7916660 )
1993

Variations for Hyperparathyroidism, Neonatal Severe

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

76
# Symbol AA change Variation ID SNP ID
1 CASR p.Arg227Leu VAR_003594 rs28936684
2 CASR p.Cys582Tyr VAR_003597 rs104893690
3 CASR p.Gly670Glu VAR_058073 rs104893700
4 CASR p.Thr100Ile VAR_065199
5 CASR p.Leu650Pro VAR_065202
6 CASR p.Val689Met VAR_065203
7 CASR p.Arg551Lys VAR_078163 rs106050286

ClinVar genetic disease variations for Hyperparathyroidism, Neonatal Severe:

6 (show top 50) (show all 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.78C> G (p.Ala26=) single nucleotide variant Benign rs77852524 GRCh37 Chromosome 3, 121973114: 121973114
2 CASR NM_000388.3(CASR): c.78C> G (p.Ala26=) single nucleotide variant Benign rs77852524 GRCh38 Chromosome 3, 122254267: 122254267
3 CASR NM_000388.3(CASR): c.748G> A (p.Glu250Lys) single nucleotide variant Benign/Likely benign rs62269092 GRCh37 Chromosome 3, 121980630: 121980630
4 CASR NM_000388.3(CASR): c.748G> A (p.Glu250Lys) single nucleotide variant Benign/Likely benign rs62269092 GRCh38 Chromosome 3, 122261783: 122261783
5 CASR NM_000388.3(CASR): c.2610G> A (p.Glu870=) single nucleotide variant Benign rs143738711 GRCh37 Chromosome 3, 122003411: 122003411
6 CASR NM_000388.3(CASR): c.2610G> A (p.Glu870=) single nucleotide variant Benign rs143738711 GRCh38 Chromosome 3, 122284564: 122284564
7 CASR NM_001178065.1(CASR): c.2998A> G (p.Arg1000Gly) single nucleotide variant Benign rs1042636 GRCh37 Chromosome 3, 122003769: 122003769
8 CASR NM_001178065.1(CASR): c.2998A> G (p.Arg1000Gly) single nucleotide variant Benign rs1042636 GRCh38 Chromosome 3, 122284922: 122284922
9 CASR NM_000388.3(CASR): c.889G> A (p.Glu297Lys) single nucleotide variant Pathogenic rs121909259 GRCh37 Chromosome 3, 121980771: 121980771
10 CASR NM_000388.3(CASR): c.889G> A (p.Glu297Lys) single nucleotide variant Pathogenic rs121909259 GRCh38 Chromosome 3, 122261924: 122261924
11 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh37 Chromosome 3, 121980436: 121980436
12 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh38 Chromosome 3, 122261589: 122261589
13 CASR CASR, ALU INS, CODON 877 insertion Pathogenic
14 CASR NM_000388.3(CASR): c.680G> T (p.Arg227Leu) single nucleotide variant Pathogenic rs28936684 GRCh37 Chromosome 3, 121980562: 121980562
15 CASR NM_000388.3(CASR): c.680G> T (p.Arg227Leu) single nucleotide variant Pathogenic rs28936684 GRCh38 Chromosome 3, 122261715: 122261715
16 CASR NM_000388.3(CASR): c.1745G> A (p.Cys582Tyr) single nucleotide variant Uncertain significance rs104893690 GRCh37 Chromosome 3, 122002546: 122002546
17 CASR NM_000388.3(CASR): c.1745G> A (p.Cys582Tyr) single nucleotide variant Uncertain significance rs104893690 GRCh38 Chromosome 3, 122283699: 122283699
18 CASR NM_000388.3(CASR): c.2241_2242delCCinsT (p.Ser749Glnfs) indel Pathogenic rs869320729 GRCh37 Chromosome 3, 122003042: 122003043
19 CASR NM_000388.3(CASR): c.2241_2242delCCinsT (p.Ser749Glnfs) indel Pathogenic rs869320729 GRCh38 Chromosome 3, 122284195: 122284196
20 CASR NM_000388.3(CASR): c.2009G> A (p.Gly670Glu) single nucleotide variant Pathogenic rs104893700 GRCh37 Chromosome 3, 122002810: 122002810
21 CASR NM_000388.3(CASR): c.2009G> A (p.Gly670Glu) single nucleotide variant Pathogenic rs104893700 GRCh38 Chromosome 3, 122283963: 122283963
22 CASR NM_000388.3(CASR): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs104893705 GRCh37 Chromosome 3, 122002743: 122002743
23 CASR NM_000388.3(CASR): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs104893705 GRCh38 Chromosome 3, 122283896: 122283896
24 CASR NM_000388.3(CASR): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs104893707 GRCh37 Chromosome 3, 121980435: 121980435
25 CASR NM_000388.3(CASR): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs104893707 GRCh38 Chromosome 3, 122261588: 122261588
26 CASR NM_001178065.1(CASR): c.2986G> T (p.Ala996Ser) single nucleotide variant Benign rs1801725 GRCh37 Chromosome 3, 122003757: 122003757
27 CASR NM_001178065.1(CASR): c.2986G> T (p.Ala996Ser) single nucleotide variant Benign rs1801725 GRCh38 Chromosome 3, 122284910: 122284910
28 CASR NM_000388.3(CASR): c.280G> T (p.Gly94Ter) single nucleotide variant Pathogenic rs104893709 GRCh37 Chromosome 3, 121976022: 121976022
29 CASR NM_000388.3(CASR): c.280G> T (p.Gly94Ter) single nucleotide variant Pathogenic rs104893709 GRCh38 Chromosome 3, 122257175: 122257175
30 CASR NM_000388.3(CASR): c.1333A> G (p.Thr445Ala) single nucleotide variant Benign/Likely benign rs12493789 GRCh37 Chromosome 3, 121981215: 121981215
31 CASR NM_000388.3(CASR): c.1333A> G (p.Thr445Ala) single nucleotide variant Benign/Likely benign rs12493789 GRCh38 Chromosome 3, 122262368: 122262368
32 CASR NM_000388.3(CASR): c.573G> A (p.Glu191=) single nucleotide variant Benign/Likely benign rs141631116 GRCh37 Chromosome 3, 121980455: 121980455
33 CASR NM_000388.3(CASR): c.573G> A (p.Glu191=) single nucleotide variant Benign/Likely benign rs141631116 GRCh38 Chromosome 3, 122261608: 122261608
34 CASR NM_000388.3(CASR): c.762T> C (p.His254=) single nucleotide variant Likely benign rs76438850 GRCh37 Chromosome 3, 121980644: 121980644
35 CASR NM_000388.3(CASR): c.762T> C (p.His254=) single nucleotide variant Likely benign rs76438850 GRCh38 Chromosome 3, 122261797: 122261797
36 CASR NM_000388.3(CASR): c.1285C> T (p.His429Tyr) single nucleotide variant Benign/Likely benign rs142818334 GRCh37 Chromosome 3, 121981167: 121981167
37 CASR NM_000388.3(CASR): c.1285C> T (p.His429Tyr) single nucleotide variant Benign/Likely benign rs142818334 GRCh38 Chromosome 3, 122262320: 122262320
38 CASR NM_000388.3(CASR): c.1631G> A (p.Arg544Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115230894 GRCh38 Chromosome 3, 122282135: 122282135
39 CASR NM_000388.3(CASR): c.1631G> A (p.Arg544Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115230894 GRCh37 Chromosome 3, 122000982: 122000982
40 CASR NM_000388.3(CASR): c.1752G> A (p.Lys584=) single nucleotide variant Likely benign rs138638329 GRCh37 Chromosome 3, 122002553: 122002553
41 CASR NM_000388.3(CASR): c.1752G> A (p.Lys584=) single nucleotide variant Likely benign rs138638329 GRCh38 Chromosome 3, 122283706: 122283706
42 CASR NM_000388.3(CASR): c.1775A> G (p.Asn592Ser) single nucleotide variant Benign/Likely benign rs117375173 GRCh37 Chromosome 3, 122002576: 122002576
43 CASR NM_000388.3(CASR): c.1775A> G (p.Asn592Ser) single nucleotide variant Benign/Likely benign rs117375173 GRCh38 Chromosome 3, 122283729: 122283729
44 CASR NM_000388.3(CASR): c.2064C> T (p.Phe688=) single nucleotide variant Conflicting interpretations of pathogenicity rs150869744 GRCh37 Chromosome 3, 122002865: 122002865
45 CASR NM_000388.3(CASR): c.2064C> T (p.Phe688=) single nucleotide variant Conflicting interpretations of pathogenicity rs150869744 GRCh38 Chromosome 3, 122284018: 122284018
46 CASR NM_001178065.1(CASR): c.1763-9A> G single nucleotide variant Benign/Likely benign rs190731787 GRCh37 Chromosome 3, 122002525: 122002525
47 CASR NM_001178065.1(CASR): c.1763-9A> G single nucleotide variant Benign/Likely benign rs190731787 GRCh38 Chromosome 3, 122283678: 122283678
48 CASR NM_000388.3(CASR): c.1665T> C (p.Ile555=) single nucleotide variant Likely benign rs201955278 GRCh38 Chromosome 3, 122282169: 122282169
49 CASR NM_000388.3(CASR): c.1665T> C (p.Ile555=) single nucleotide variant Likely benign rs201955278 GRCh37 Chromosome 3, 122001016: 122001016
50 CASR NM_000388.3(CASR): c.1923C> T (p.Pro641=) single nucleotide variant Uncertain significance rs368093724 GRCh38 Chromosome 3, 122283877: 122283877

Expression for Hyperparathyroidism, Neonatal Severe

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

Pathways for Hyperparathyroidism, Neonatal Severe

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

# Super pathways Score Top Affiliating Genes
1 10.73 CASR PRKAR1A

GO Terms for Hyperparathyroidism, Neonatal Severe

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

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

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

# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 8.62 CASR TRPV6

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

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

Sources for Hyperparathyroidism, Neonatal Severe

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....