NSHPT
MCID: HYP776
MIFTS: 46

Hyperparathyroidism, Neonatal Severe (NSHPT)

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

Aliases & Classifications for Hyperparathyroidism, Neonatal Severe

MalaCards integrated aliases for Hyperparathyroidism, Neonatal Severe:

Name: Hyperparathyroidism, Neonatal Severe 57 72 70
Nshpt 57 58 72 54
Neonatal Severe Hyperparathyroidism 20 29 6
Neonatal Severe Primary Hyperparathyroidism 58 72
Hyperparathyroidism, Neonatal 57 13
Neonatal Hyperparathyroidism 36 70
Nsph 57 72
Nhpt 57 72
Hyperparathyroidism, Neonatal Severe Primary 57
Hyperparathyroidism, Severe, Neonatal 39
Nsph; Nhpt 57

Characteristics:

Orphanet epidemiological data:

58
neonatal severe primary hyperparathyroidism
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant (de novo in some patients)


HPO:

31
hyperparathyroidism, neonatal severe:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Hyperparathyroidism, Neonatal Severe

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 417 Definition Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. Epidemiology The prevalence is unknown. Clinical description The 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. Etiology NSHPT 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 methods Biologically, 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 diagnosis Prenatal diagnosis might be proposed to parents if they are both suffering from FHH. Genetic counseling NSHPT represents the homozygous form of FHH and is transmitted as an autosomal recessive trait. However, sporadic forms of NSHPT occur and are associated with a heterozygous de 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 treatment The 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. Prognosis Patients can die from complications of hypercalcemia during the neonatal period from respiratory distress and dramatic hypercalcemia.

MalaCards based summary : Hyperparathyroidism, Neonatal Severe, also known as nshpt, is related to familial hypocalciuric hypercalcemia and secondary 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, thyroid and kidney, and related phenotypes are splenomegaly and hepatomegaly

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Neonatal hyperparathyroidism (NHPT) is a disorder of calcium homeostasis that is associated with missense mutations of the calcium-sensing receptor. NHPT is characterized by marked elevation in serum calcium and parathyroid hormone (PTH) levels, skeletal demineralization, and parathyroid cellular hyperplasia that can be lethal without parathyroidectomy.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Hyperparathyroidism, Neonatal Severe family:

Hyperparathyroidism, Transient Neonatal

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 familial hypocalciuric hypercalcemia 29.6 CXADR CASR
2 secondary hyperparathyroidism 29.5 NR1I3 CXADR CASR
3 hypocalcemia, autosomal dominant 1 29.5 PRKAR1A NR1I3 CXADR CASR
4 hyperparathyroidism 29.2 TRPV6 PRKAR1A NR1I3 CASR
5 hypoparathyroidism 29.0 PRKAR1A NR1I3 CXADR CASR
6 primary hyperparathyroidism 29.0 PRKAR1A NR1I3 CXADR CASR
7 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 11.3
8 hyperparathyroidism, transient neonatal 11.1
9 hypocalciuric hypercalcemia, familial, type i 10.5
10 hypercalcemia, infantile, 1 10.4
11 hypotonia 10.3
12 autosomal recessive disease 10.2
13 bone disease 10.2
14 secondary hyperparathyroidism of renal origin 10.2
15 hypercalciuria, absorptive, 2 10.1
16 mucolipidosis 10.0
17 pseudohypoparathyroidism 10.0
18 alkaptonuria 10.0
19 nephrocalcinosis 10.0
20 multiple endocrine neoplasia 10.0
21 hyperthyroidism 10.0
22 hurler syndrome 10.0
23 dysostosis 10.0
24 lysosomal storage disease with skeletal involvement 10.0
25 hyperparathyroidism 1 9.9
26 celiac disease 1 9.9
27 multiple endocrine neoplasia, type iv 9.9
28 rickets 9.9
29 respiratory failure 9.9
30 constipation 9.9
31 craniosynostosis 9.9
32 bilirubin metabolic disorder 9.9
33 dysphagia 9.9
34 encephalopathy 9.9
35 autoimmune hypoparathyroidism 9.8 PRKAR1A CASR
36 mucolipidosis ii alpha/beta 9.8
37 mucopolysaccharidosis-plus syndrome 9.8
38 hypophosphatemia 9.8
39 bone resorption disease 9.8
40 osteomalacia 9.8
41 asphyxia neonatorum 9.8
42 renal tubular acidosis 9.8
43 lysosomal storage disease 9.8
44 glycoproteinosis 9.8
45 adenoma 9.8
46 muscular atrophy 9.8
47 impetigo herpetiformis 9.8
48 impetigo 9.8
49 aminoaciduria 9.8
50 bronchopulmonary dysplasia 9.8

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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
7 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
8 abnormality of the thyroid gland 58 31 hallmark (90%) Very frequent (99-80%) HP:0000820
9 hypotonia 31 hallmark (90%) HP:0001252
10 abnormal calcium-phosphate regulating hormone level 31 hallmark (90%) HP:0100530
11 failure to thrive 31 HP:0001508
12 constipation 31 HP:0002019
13 muscular hypotonia 58 Very frequent (99-80%)
14 feeding difficulties in infancy 31 HP:0008872
15 polydipsia 31 HP:0001959
16 hypophosphatemia 31 HP:0002148
17 anemia 31 HP:0001903
18 dyspnea 31 HP:0002094
19 hypercalciuria 31 HP:0002150
20 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
21 hypercalcemia 31 HP:0003072
22 tachypnea 31 HP:0002789
23 generalized hypotonia 31 HP:0001290
24 metaphyseal irregularity 31 HP:0003025
25 calcinosis 31 HP:0003761
26 hyperphosphaturia 31 HP:0003109
27 primary hyperparathyroidism 31 HP:0008200
28 elevated circulating parathyroid hormone level 31 HP:0003165
29 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypophosphatemia
aminoaciduria
hypercalciuria
hypercalcemia
hyperphosphaturia
more
Respiratory:
dyspnea
tachypnea

Genitourinary Kidneys:
polyuria
renal calcinosis

Skeletal:
multiple fractures
irregular metaphyses
demineralization

Abdomen Gastrointestinal:
constipation
polydipsia
poor feeding

Abdomen Liver:
hepatomegaly

Hematology:
anemia

Chest External Features:
narrow chest

Neurologic Central Nervous System:
hypotonia

Endocrine Features:
neonatal primary hyperparathyroidism

Clinical features from OMIM®:

239200 (Updated 20-May-2021)

UMLS symptoms related to Hyperparathyroidism, Neonatal Severe:


constipation; polydipsia; dyspnea; polyuria

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.39 PRKAR1A CASR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10.39 CASR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.39 CASR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 10.39 CASR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.39 PRKAR1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 10.39 PRKAR1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.39 TRPV6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 10.39 CASR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 10.39 PRKAR1A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.39 CASR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.39 TRPV6
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.39 CASR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-30 10.39 TRPV6
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 10.39 PRKAR1A
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.39 PRKAR1A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.39 PRKAR1A TRPV6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.39 TRPV6
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.39 PRKAR1A
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 10.39 CASR
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.39 PRKAR1A
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.39 CASR
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 10.39 TRPV6
23 Decreased viability GR00221-A-1 9.77 NR1I3 PRKAR1A TRPV6
24 Decreased viability GR00221-A-2 9.77 NR1I3 PRKAR1A TRPV6
25 Decreased viability GR00221-A-3 9.77 PRKAR1A TRPV6
26 Decreased viability GR00221-A-4 9.77 PRKAR1A TRPV6
27 Decreased viability GR00249-S 9.77 NR1I3
28 Decreased viability GR00301-A 9.77 NR1I3
29 Decreased viability GR00386-A-1 9.77 NR1I3
30 Decreased viability GR00402-S-2 9.77 TRPV6

MGI Mouse Phenotypes related to Hyperparathyroidism, Neonatal Severe:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 CASR CXADR NR1I3 PRKAR1A TRPV6
2 reproductive system MP:0005389 8.92 CXADR NR1I3 PRKAR1A TRPV6

Drugs & Therapeutics for Hyperparathyroidism, Neonatal Severe

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serum Neurofilaments Light Chain and GFAP (Glial Fibrillary Acidic Protein) in Atypical Idiopathic Inflammatory Demyelinating Disorders Recruiting NCT04201470
2 Preliminary Study to Evaluate the Effect of an EEG-proprioceptive Neurofeedback on Cortical Excitability and Motor Function of the Upper Limb After Stroke Recruiting NCT04130711
3 Influence of Cognitive Function Software Therapy on the Improvement of Manual Skills in Multiple Sclerosis Patients Terminated NCT03693118

Search 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 29 CASR

Anatomical Context for Hyperparathyroidism, Neonatal Severe

MalaCards organs/tissues related to Hyperparathyroidism, Neonatal Severe:

40
Bone, Thyroid, Kidney

Publications for Hyperparathyroidism, Neonatal Severe

Articles related to Hyperparathyroidism, Neonatal Severe:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 61 57 6
7916660 1993
2
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. 57 6
8675635 1995
3
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. 57 6
7054696 1982
4
Hereditary parathyroid hyperplasia: a surgical emergency of early infancy. 6 57
5013415 1972
5
Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. 61 6 54
9253359 1997
6
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 6 54 61
9109436 1997
7
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 61 6 54
7717399 1995
8
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. 6 61
26646938 2016
9
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia. 6 61
26855056 2016
10
Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism. 6 61
25828954 2015
11
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 61 6
26161261 2015
12
A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. 6 61
24854525 2014
13
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. 6
31672324 2019
14
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. 6
26963950 2016
15
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia. 6
24947037 2014
16
Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager. 6
19423559 2009
17
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. 6
16642557 2006
18
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. 6
15572418 2005
19
Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. 6
15292296 2004
20
A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria. 6
11231970 2001
21
Primary hyperparathyroidism in children: patient report and review of the literature. 57
9642634 1998
22
Calcium-ion-sensing cell-surface receptors. 6
7791841 1995
23
Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. 6
2211966 1990
24
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. 57
3966479 1985
25
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. 6
6543841 1984
26
Familial hypocalciuric hypercalcemia. 57
7412788 1980
27
Hereditary neonatal hyperparathyroidism. 57
619857 1978
28
Neonatal primary hyperparathyroidism with autosomal dominant inheritance. 57
830920 1977
29
[Congenital hyperparathyroidism]. 57
5748703 1968
30
[Acute hyperparathyroidism in primary parathyroid hyperplasia]. 57
5592962 1967
31
NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM. 57
14089114 1964
32
Primary diffuse parathyroid hyperplasia in an infant of 4 months. 57
18887540 1948
33
Hypercalcemia and idiopathic hyperplasia of the parathyroid glands in an infant. 6
20290361 1947
34
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. 54 61
17555508 2007
35
A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism. 54 61
16509534 2006
36
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. 61 54
15879434 2005
37
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. 54 61
15662592 2005
38
Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. 54 61
15579740 2004
39
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 61 54
15588433 2004
40
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. 61 54
15241688 2004
41
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. 61 54
15241791 2004
42
Diseases associated with the extracellular calcium-sensing receptor. 61 54
15200151 2004
43
The pathophysiology of primary hyperparathyroidism. 54 61
12412774 2002
44
Hyperparathyroidism in hereditary syndromes: special expressions and special managements. 54 61
12412776 2002
45
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. 61 54
11889203 2002
46
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 61 54
11668634 2001
47
Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. 54 61
11033758 2000
48
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. 61 54
10468915 1999
49
Disorders of the calcium-sensing receptor. 61 54
9920407 1998
50
The calcium-sensing receptor (CaR) permits Ca2+ to function as a versatile extracellular first messenger. 61 54
9769711 1998

Variations for Hyperparathyroidism, Neonatal Severe

ClinVar genetic disease variations for Hyperparathyroidism, Neonatal Severe:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASR NM_000388.4(CASR):c.680G>T (p.Arg227Leu) SNV Pathogenic 8317 rs28936684 GRCh37: 3:121980562-121980562
GRCh38: 3:122261715-122261715
2 CASR NM_000388.4(CASR):c.280G>T (p.Gly94Ter) SNV Pathogenic 8351 rs104893709 GRCh37: 3:121976022-121976022
GRCh38: 3:122257175-122257175
3 CASR NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) Indel Pathogenic 8319 rs869320729 GRCh37: 3:122003042-122003043
GRCh38: 3:122284195-122284196
4 CASR NM_000388.4(CASR):c.889G>A (p.Glu297Lys) SNV Pathogenic 8313 rs121909259 GRCh37: 3:121980771-121980771
GRCh38: 3:122261924-122261924
5 CASR CASR, ALU INS, CODON 877 Insertion Pathogenic 8316 GRCh37:
GRCh38:
6 CASR NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) SNV Pathogenic 8341 rs104893705 GRCh37: 3:122002743-122002743
GRCh38: 3:122283896-122283896
7 CASR NM_000388.4(CASR):c.1609-31G>A SNV Pathogenic 1028226 GRCh37: 3:122000929-122000929
GRCh38: 3:122282082-122282082
8 CASR NM_000388.4(CASR):c.554G>A (p.Arg185Gln) SNV Pathogenic 8314 rs104893689 GRCh37: 3:121980436-121980436
GRCh38: 3:122261589-122261589
9 CASR NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) SNV Pathogenic 8318 rs104893690 GRCh37: 3:122002546-122002546
GRCh38: 3:122283699-122283699
10 CASR NM_000388.4(CASR):c.553C>T (p.Arg185Ter) SNV Pathogenic 8345 rs104893707 GRCh37: 3:121980435-121980435
GRCh38: 3:122261588-122261588
11 CASR NM_000388.4(CASR):c.206G>A (p.Arg69His) SNV Pathogenic 35787 rs193922432 GRCh37: 3:121975948-121975948
GRCh38: 3:122257101-122257101
12 CASR NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) SNV Pathogenic 8329 rs104893700 GRCh37: 3:122002810-122002810
GRCh38: 3:122283963-122283963
13 CASR NM_000388.4(CASR):c.2303G>T (p.Gly768Val) SNV Pathogenic 633483 rs201858689 GRCh37: 3:122003104-122003104
GRCh38: 3:122284257-122284257
14 CASR NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) SNV Conflicting interpretations of pathogenicity 237758 rs115230894 GRCh37: 3:122000982-122000982
GRCh38: 3:122282135-122282135
15 CASR NM_000388.4(CASR):c.2064C>T (p.Phe688=) SNV Uncertain significance 237762 rs150869744 GRCh37: 3:122002865-122002865
GRCh38: 3:122284018-122284018
16 CASR NM_000388.4(CASR):c.1665T>C (p.Ile555=) SNV Uncertain significance 342799 rs201955278 GRCh37: 3:122001016-122001016
GRCh38: 3:122282169-122282169
17 CASR NM_000388.4(CASR):c.*103A>C SNV Uncertain significance 342808 rs199899073 GRCh37: 3:122004141-122004141
GRCh38: 3:122285294-122285294
18 CASR NM_000388.4(CASR):c.-111C>A SNV Uncertain significance 342794 rs201098532 GRCh37: 3:121972926-121972926
GRCh38: 3:122254079-122254079
19 CASR NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) SNV Uncertain significance 463891 rs200771541 GRCh37: 3:121980973-121980973
GRCh38: 3:122262126-122262126
20 CASR NM_000388.4(CASR):c.1752G>A (p.Lys584=) SNV Uncertain significance 237759 rs138638329 GRCh37: 3:122002553-122002553
GRCh38: 3:122283706-122283706
21 CASR NM_000388.4(CASR):c.3054C>T (p.Cys1018=) SNV Uncertain significance 342804 rs371038712 GRCh37: 3:122003855-122003855
GRCh38: 3:122285008-122285008
22 CASR NM_000388.4(CASR):c.*923T>C SNV Uncertain significance 342814 rs201230484 GRCh37: 3:122004961-122004961
GRCh38: 3:122286114-122286114
23 CASR NM_000388.4(CASR):c.*1197C>G SNV Uncertain significance 342819 rs886057836 GRCh37: 3:122005235-122005235
GRCh38: 3:122286388-122286388
24 CASR NM_000388.4(CASR):c.930C>T (p.Tyr310=) SNV Uncertain significance 342797 rs201737357 GRCh37: 3:121980812-121980812
GRCh38: 3:122261965-122261965
25 CASR NM_000388.4(CASR):c.3168G>T (p.Val1056=) SNV Uncertain significance 342805 rs886057831 GRCh37: 3:122003969-122003969
GRCh38: 3:122285122-122285122
26 CASR NM_000388.4(CASR):c.*1201C>T SNV Uncertain significance 342821 rs886057837 GRCh37: 3:122005239-122005239
GRCh38: 3:122286392-122286392
27 CASR NM_000388.4(CASR):c.-10C>T SNV Uncertain significance 431803 rs753659949 GRCh37: 3:121973027-121973027
GRCh38: 3:122254180-122254180
28 CASR NM_000388.4(CASR):c.649G>A (p.Asp217Asn) SNV Uncertain significance 410344 rs201091657 GRCh37: 3:121980531-121980531
GRCh38: 3:122261684-122261684
29 CASR NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) SNV Uncertain significance 900089 GRCh37: 3:121981189-121981189
GRCh38: 3:122262342-122262342
30 CASR NM_000388.4(CASR):c.2147G>A (p.Arg716His) SNV Uncertain significance 410351 rs201670662 GRCh37: 3:122002948-122002948
GRCh38: 3:122284101-122284101
31 CASR NM_000388.4(CASR):c.*1011T>A SNV Uncertain significance 900509 GRCh37: 3:122005049-122005049
GRCh38: 3:122286202-122286202
32 CASR NM_000388.4(CASR):c.32T>C (p.Leu11Ser) SNV Uncertain significance 647813 rs200673016 GRCh37: 3:121973068-121973068
GRCh38: 3:122254221-122254221
33 CASR NM_000388.4(CASR):c.60C>T (p.Tyr20=) SNV Uncertain significance 285281 rs201564143 GRCh37: 3:121973096-121973096
GRCh38: 3:122254249-122254249
34 CASR NM_000388.4(CASR):c.2255G>A (p.Arg752His) SNV Uncertain significance 532595 rs771529256 GRCh37: 3:122003056-122003056
GRCh38: 3:122284209-122284209
35 CASR NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) SNV Uncertain significance 851685 GRCh37: 3:122003350-122003350
GRCh38: 3:122284503-122284503
36 CASR NM_000388.4(CASR):c.*251G>C SNV Uncertain significance 902114 GRCh37: 3:122004289-122004289
GRCh38: 3:122285442-122285442
37 CASR NM_000388.4(CASR):c.1188A>G (p.Thr396=) SNV Uncertain significance 237755 rs200312817 GRCh37: 3:121981070-121981070
GRCh38: 3:122262223-122262223
38 CASR NM_000388.4(CASR):c.3234A>T (p.Ser1078=) SNV Uncertain significance 532639 rs556263764 GRCh37: 3:122004035-122004035
GRCh38: 3:122285188-122285188
39 CASR NM_000388.4(CASR):c.*1298A>G SNV Uncertain significance 902233 GRCh37: 3:122005336-122005336
GRCh38: 3:122286489-122286489
40 CASR NM_000388.4(CASR):c.-137C>T SNV Uncertain significance 899938 GRCh37: 3:121972900-121972900
GRCh38: 3:122254053-122254053
41 CASR NM_000388.4(CASR):c.108G>A (p.Gly36=) SNV Uncertain significance 744538 rs781573002 GRCh37: 3:121973144-121973144
GRCh38: 3:122254297-122254297
42 CASR NM_000388.4(CASR):c.183C>T (p.Ile61=) SNV Uncertain significance 900017 GRCh37: 3:121973219-121973219
GRCh38: 3:122254372-122254372
43 CASR NM_000388.4(CASR):c.-154T>A SNV Uncertain significance 342792 rs186365367 GRCh37: 3:121972883-121972883
GRCh38: 3:122254036-122254036
44 CASR NM_000388.4(CASR):c.*625G>A SNV Uncertain significance 342811 rs886057833 GRCh37: 3:122004663-122004663
GRCh38: 3:122285816-122285816
45 CASR NM_000388.4(CASR):c.2955C>T (p.Asn985=) SNV Uncertain significance 342803 rs199884115 GRCh37: 3:122003756-122003756
GRCh38: 3:122284909-122284909
46 CASR NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) SNV Uncertain significance 1033006 GRCh37: 3:122003371-122003371
GRCh38: 3:122284524-122284524
47 CASR NM_000388.4(CASR):c.*1193C>T SNV Uncertain significance 342818 rs886057835 GRCh37: 3:122005231-122005231
GRCh38: 3:122286384-122286384
48 CASR NM_000388.4(CASR):c.1733-9A>G SNV Uncertain significance 257606 rs190731787 GRCh37: 3:122002525-122002525
GRCh38: 3:122283678-122283678
49 CASR NM_000388.4(CASR):c.*1169C>T SNV Uncertain significance 342817 rs200652347 GRCh37: 3:122005207-122005207
GRCh38: 3:122286360-122286360
50 CASR NM_000388.4(CASR):c.*640G>T SNV Uncertain significance 342812 rs201855028 GRCh37: 3:122004678-122004678
GRCh38: 3:122285831-122285831

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

72
# 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

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 PRKAR1A CASR

GO Terms for Hyperparathyroidism, Neonatal Severe

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 TRPV6 CASR

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 CXADR CASR

Sources for Hyperparathyroidism, Neonatal Severe

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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