NSHPT
MCID: HYP315
MIFTS: 20

Hyperparathyroidism, Neonatal (NSHPT) malady

Bone, Endocrine, Fetal categories

Summaries for Hyperparathyroidism, Neonatal

Sources:
47OMIM, 33MalaCards
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MalaCards: Hyperparathyroidism, Neonatal, is also known as hyperparathyroidism, neonatal severe primary, and has symptoms including autosomal recessive inheritance, pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria and hypotonia. An important gene associated with Hyperparathyroidism, Neonatal is CASR (calcium-sensing receptor).

Description from OMIM:47 239200

Aliases & Classifications for Hyperparathyroidism, Neonatal

Sources:
61UMLS, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Endocrine


Characteristics (Orphanet epidemiological data):

49
neonatal severe primary hyperparathyroidism:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

hyperparathyroidism, neonatal 47
hyperparathyroidism, neonatal severe primary 61
neonatal severe primary hyperparathyroidism 49
nshpt 49


External Ids:

OMIM47 239200
ICD10 via Orphanet26 E21.0

Related Diseases for Hyperparathyroidism, Neonatal

Clinical Features for Hyperparathyroidism, Neonatal

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

239200

Clinical synopsis from OMIM:

239200

Symptoms:

49 (show all 12)
  • autosomal recessive inheritance
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • hypotonia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • short stature/dwarfism/nanism
  • aminoacid metabolism anomalies/aminoaciduria
  • metaphyseal anomaly
  • narrow rib cage/thorax
  • mutiple fractures/bone fragility
  • hyperparathyroidy
  • phosphocalcic metabolism anomalies

Drugs & Therapeutics for Hyperparathyroidism, Neonatal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperparathyroidism, Neonatal

Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism, Neonatal

Search NIH Clinical Center for Hyperparathyroidism, Neonatal

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Genetic Tests for Hyperparathyroidism, Neonatal

Anatomical Context for Hyperparathyroidism, Neonatal

Animal Models for Hyperparathyroidism, Neonatal or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hyperparathyroidism, Neonatal

Sources:
51PubMed
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Articles related to Hyperparathyroidism, Neonatal:

(show all 45)
idTitleAuthorsYear
1
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. (24203066)
2014
2
Neonatal seizure as a manifestation of unrecognized maternal hyperparathyroidism. (24072092)
2013
3
Late neonatal hypocalcemic tetany as a manifestation of unrecognized maternal primary hyperparathyroidism. (24292040)
2013
4
Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a. (23729602)
2013
5
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
6
Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II. (23612593)
2013
7
Anaesthetic management of neonatal primary hyperparathyroidism. (23866456)
2012
8
Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism. (22331334)
2012
9
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
10
Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress. (19460269)
2009
11
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. (18751724)
2009
12
Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism. (17569990)
2008
13
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
14
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. (17974727)
2007
15
A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism. (16509534)
2006
16
Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II. (16886594)
2006
17
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. (15580357)
2005
18
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. (15572418)
2005
19
Neonatal hyperparathyroidism due to maternal hypoparathyroidism and vitamin D deficiency: a cause of multiple bone fractures. (15821853)
2005
20
Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. (15292296)
2004
21
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (15241791)
2004
22
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. (15241688)
2004
23
Neonatal convulsion revealing maternal hyperparathyroidism: an unusual case of late neonatal hypoparathyroidism. (12942255)
2003
24
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor]. (11857921)
2002
25
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (11668634)
2001
26
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (11013439)
2000
27
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families. (10885494)
2000
28
Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. (9253359)
1997
29
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
30
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
31
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. (9011580)
1997
32
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. (8675635)
1995
33
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7493018)
1995
34
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7717399)
1995
35
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7916660)
1993
36
Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia. (8416480)
1993
37
Maternal and neonatal hyperparathyroidism as a consequence of maternal renal tubular acidosis. (8441579)
1993
38
Transient neonatal distal renal tubular acidosis with secondary hyperparathyroidism. (1616837)
1992
39
Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. (3612401)
1987
40
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. (6543841)
1984
41
Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. (6843519)
1983
42
Transient neonatal hyperparathyroidism secondary to maternal pseudohypoparathyroidism. (7073308)
1982
43
Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. (7102625)
1982
44
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. (7054696)
1982
45
Transient neonatal hyperparathyroidism secondary to maternal pseudohypoparathyroidism. (7271292)
1981

Genetic Variations for Hyperparathyroidism, Neonatal

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperparathyroidism, Neonatal:

63
id Symbol AA change Variation SNP ID
1CASRp.Arg62MetVAR_003586
2CASRp.Arg227LeuVAR_003594rs28936684
3CASRp.Glu297LysVAR_003596
4CASRp.Cys582TyrVAR_003597
5CASRp.Gly670GluVAR_058073

Expression for genes affiliated with Hyperparathyroidism, Neonatal

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperparathyroidism, Neonatal

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Pathways for genes affiliated with Hyperparathyroidism, Neonatal

Compounds for genes affiliated with Hyperparathyroidism, Neonatal

GO Terms for genes affiliated with Hyperparathyroidism, Neonatal

Products for genes affiliated with Hyperparathyroidism, Neonatal

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Sources for Hyperparathyroidism, Neonatal

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet