MCID: HYP024
MIFTS: 57

Hypoparathyroidism malady

Rare diseases, Endocrine diseases, Immune diseases categories

Summaries for Hypoparathyroidism

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (pth). common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). it may be caused by injury to the parathyroid glands (e.g., during surgery). other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, digeorge syndrome, and type i polyglandular autoimmune syndrome. the goal of treatment is to restore the calcium and mineral balance in the body. last updated: 3/10/2011

MalaCards: Hypoparathyroidism, also known as hypoparathyroidism, idiopathic, is related to hypoparathyroidism familial isolated and hypercalcemia. An important gene associated with Hypoparathyroidism is PTH (parathyroid hormone), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Factors involved in megakaryocyte development and platelet production. The drug ergocalciferol and the compounds pamidronate and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and kidney, and related mouse phenotypes are pigmentation and craniofacial.

Wikipedia:66 Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid... more...

Aliases & Classifications for Hypoparathyroidism

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 28ICD9CM, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Endocrine diseases, Immune diseases


Aliases & Descriptions:

hypoparathyroidism 9 44 11 46 63
hypoparathyroidism, idiopathic 44
parathyroid, underactivity of 44
hypoparathyroidism nos 9


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Disease Ontology9 DOID:11199
MeSH36 D007011
NCIt41 C78350
ICD9CM28 252.1
ICD1026 E20.0

Related Diseases for Hypoparathyroidism

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Hypoparathyroidism family:

Autoimmune Hypoparathyroidism

Diseases related to Hypoparathyroidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 206)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism familial isolated30.7GCM2, PTH
2hypercalcemia30.5CASR, PTH, PRKAR1A
3hyperparathyroidism30.5PTH, PRKAR1A, CASR
4hypothyroidism30.4CASR, PTH, AIRE
5autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.3CASR, AIRE
6diabetes mellitus30.3CASR, PTH, AIRE
7calcinosis30.3PTH, CASR
8hypocalcemia, autosomal dominant30.3PRKAR1A, CASR
9graves' disease30.2AIRE, CASR
10osteomalacia30.1CASR, PTH
11autoimmune polyendocrine syndrome30.1CASR, AIRE
12thyroid cancer30.0PTH, PRKAR1A
13primary hyperparathyroidism29.9PTH, GCM2, CASR, PRKAR1A
14osteoporosis29.7PTH, GCM2, CASR, PRKAR1A
15pseudohypoparathyroidism10.6
16thyroiditis10.5
17autoimmune hypoparathyroidism10.5
18renal dysplasia10.5
19hypoparathyroidism-retardation-dysmorphism syndrome10.4
20steatorrhea10.3
21kearns-sayre syndrome10.3
22thalassemia10.3
23beta thalassemia10.3
24celiac disease10.3
25myopathy10.3
26barakat syndrome10.3
27digeorge syndrome10.2
28systemic lupus erythematosus10.2
29dementia10.2
30lupus erythematosus10.2
31familial isolated hypoparathyroidism due to agenesis of parathyroid gland10.2
32ankylosing spondylitis10.1
33impetigo herpetiformis10.1
34albright's hereditary osteodystrophy10.1
35pernicious anemia10.1
36candidiasis10.1
37impetigo10.1
38laryngitis10.1
39spondylitis10.1
40hypoparathyroidism, sensorineural deafness, and renal disease10.1
41mental retardation10.1
42parathyroid gland disease10.1AIRE
43omenn syndrome10.1AIRE
44pseudopseudohypoparathyroidism10.1
45nephrocalcinosis10.1
46autoimmune polyendocrine syndrome type 110.1
47psoriasis10.1
48dahlberg borer newcomer syndrome10.1
49hypoparathyroidism x-linked10.1
50pseudohypoparathyroidism type 1c10.1

Graphical network of the top 20 diseases related to Hypoparathyroidism:



Diseases related to hypoparathyroidism

Symptoms for Hypoparathyroidism

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Drugs & Therapeutics for Hypoparathyroidism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hypoparathyroidism

Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism

Search NIH Clinical Center for Hypoparathyroidism

Search CenterWatch for Hypoparathyroidism

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Hypoparathyroidism

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Anatomical Context for Hypoparathyroidism

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34MalaCards
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MalaCards organs/tissues related to Hypoparathyroidism:

34
Testes, Thyroid, Kidney, Skin, Bone, Heart, Brain, T cells, Liver, Pituitary, Breast, Endothelial

Animal Models for Hypoparathyroidism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hypoparathyroidism:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1PRKAR1A, CASR, GATA3
2MP:00053828.9GCM2, GATA3, PRKAR1A, PTH
3MP:00053918.5AIRE, PRKAR1A, CASR, GATA3
4MP:00053908.5PTH, PRKAR1A, CASR, GATA3, GCM2
5MP:00053978.2GATA3, CASR, PRKAR1A, PTH, AIRE
6MP:00053878.1AIRE, PTH, PRKAR1A, CASR, GATA3
7MP:00028738.1GATA3, RMRP, PRKAR1A, AIRE
8MP:00053848.0GCM2, GATA3, CASR, PRKAR1A, AIRE
9MP:00053798.0AIRE, PTH, PRKAR1A, CASR, GATA3, GCM2
10MP:00053767.9AIRE, PTH, PRKAR1A, CASR, GATA3, GCM2
11MP:00053787.8AIRE, PTH, PRKAR1A, CASR, GATA3
12MP:00107686.7GCM2, AIRE, PTH, PRKAR1A, CASR, TBCE

Publications for Hypoparathyroidism

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53PubMed
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Articles related to Hypoparathyroidism:

(show top 50)    (show all 586)
idTitleAuthorsYear
1
Adult primary hypoparathyroidism: A rare presentation. (24251158)
2013
2
Dental findings in the diagnosis of idiopathic hypoparathyroidism. (24060725)
2013
3
The syndrome of hypoparathyroidism, deafness, and renal anomalies. (23757620)
2013
4
Post-operative partial hypoparathyroidism: an under-recognized disorder (Re: ANZ J. Surg. 2011; 81: 524-7). (22507516)
2012
5
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. (22066718)
2012
6
Carotid intima media thickness in patients with sporadic idiopathic hypoparathyroidism: a pilot study. (22481143)
2012
7
Transient and permanent hypoparathyroidism following thyroidectomy. (23232482)
2012
8
Hypoparathyroidism mimicking ankylosing spondylitis and myopathy: a case report. (21876989)
2011
9
Severe isolated primary hypoparathyroidism in an adult. (21333245)
2011
10
Three dimensional cancellous bone structure in hypoparathyroidism. (19782782)
2010
11
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. (19491227)
2009
12
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. (19659764)
2009
13
Successful treatment of vitamin D unresponsive hypoparathyroidism with multipulse subcutaneous infusion of teriparatide. (18703565)
2008
14
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. (18520110)
2008
15
Intracranial bilateral symmetric calcification in hypoparathyroidism. (18299367)
2008
16
Do NALP5 antibodies correlate with hypoparathyroidism in patients with APS-1? (18711407)
2008
17
A rare cause of heart failure--primary hypoparathyroidism. (17907506)
2007
18
Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. (18018479)
2007
19
Successful treatment of portal hypertension and hypoparathyroidism with a gluten-free diet. (17667060)
2007
20
Reversible dilated hypocalcaemic cardiomyopathy in a patient with primary hypoparathyroidism. (16712680)
2006
21
Heterochromia iridis with primary hypoparathyroidism. (15636313)
2004
22
Hypoparathyroidism with extensive intracerebral calcification in patients with beta-thalassemia major. (12948301)
2003
23
The impact of surgical technique on postoperative hypoparathyroidism in bilateral thyroid surgery: a multivariate analysis of 5846 consecutive patients. (12605179)
2003
24
Risk factors and risk for mortality of mild hypoparathyroidism in hemodialysis patients. (12046038)
2002
25
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. (11571675)
2001
26
High bone mass and hypocalcaemic myopathy in a patient with idiopathic hypoparathyroidism. (10752503)
2000
27
Parathyroid xenotransplantation without immunosuppression in experimental hypoparathyroidism: long-term in vivo function following microencapsulation with a clinically suitable alginate. (11038207)
2000
28
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism. (11102731)
2000
29
Untreated idiopathic hypoparathyroidism associated with infant congenital and perinatal abnormalities. (10052751)
1999
30
Hypercalcemia in a woman with hypoparathyroidism associated with increased parathyroid hormone-related protein during lactation. (15251676)
1999
31
Relative hypoparathyroidism and adynamic bone disease. (10372841)
1999
32
Idiopathic hypoparathyroidism associated with adult rheumatoid arthritis. (10468176)
1999
33
Oestrogen and calcium homeostasis in women with hypoparathyroidism. (10550094)
1999
34
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (10487661)
1999
35
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
36
Association between vitamin D receptor gene polymorphism and relative hypoparathyroidism in patients with chronic renal failure. (9335382)
1997
37
Incidence and clinical characteristics of hypoparathyroidism in dialysis patients. (9350686)
1997
38
Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features. (10830039)
1996
39
Reversible dementia in idiopathic hypoparathyroidism associated with normocalcemia. (8757023)
1996
40
Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (8045737)
1994
41
Serum striated muscle enzymes in autoimmune hypoparathyroidism]. (8253399)
1993
42
Dental manifestations of autoimmune hypoparathyroidism. (8464608)
1993
43
Relative hypoparathyroidism and calcitriol up-regulation in hypercalciuric calcium renal stone formers--impact of nutrition. (8322837)
1993
44
Generalized pustular psoriasis and idiopathic hypoparathyroidism. (1892417)
1991
45
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. (3534888)
1986
46
Idiopathic hypoparathyroidism and steatorrhea: a new aid in management. (4443861)
1974
47
A case of the Capgras syndrome in association with pseudo-hypoparathyroidism. (4826852)
1974
48
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)
1967
49
Convulsions and papilledema in a child with idiopathic hypoparathyroidism. (13701082)
1961
50
Idiopathic hypoparathyroidism with papilledema in a boy six years of age; report of a case associated with moniliasis and the celiac syndrome and a brief review of the literature. (15423957)
1950

Variations for Hypoparathyroidism

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Expression for genes affiliated with Hypoparathyroidism

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypoparathyroidism

Search GEO for disease gene expression data for Hypoparathyroidism.

Pathways for genes affiliated with Hypoparathyroidism

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51PathCards, 61Thomson Reuters, 56Reactome
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Pathways related to Hypoparathyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PRKAR1A, PTH
29.4GATA3, PRKAR1A

Compounds for genes affiliated with Hypoparathyroidism

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB
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Compounds related to Hypoparathyroidism according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1pamidronate46 52 1212.0CASR, PTH
225-hydroxyvitamin d469.9CASR, PTH
3phosphorus469.9PTH, CASR
4cpccoet46 3010.8CASR, PRKAR1A
5gadolinium469.7PRKAR1A, CASR
6cinacalcet46 30 1211.7PRKAR1A, CASR
7l-amino acid469.7PRKAR1A, CASR
81,25 dihydroxy vitamin d3469.6CASR, PTH
9neomycin469.6CASR, PRKAR1A
10vitamin d469.4CASR, PRKAR1A, PTH
11forskolin46 52 1211.3CASR, PRKAR1A, PTH
12adenylate469.2PTH, PRKAR1A, CASR
13magnesium46 25 1211.2CASR, PRKAR1A, PTH
14arginine469.1CASR, PRKAR1A, PTH
15cyclic amp46 2510.0GATA3, CASR, PRKAR1A, PTH
16dexamethasone46 52 30 1211.8PTH, PRKAR1A, GATA3
17tyrosine468.7AIRE, PTH, CASR, GATA3
18calcium46 52 25 1211.5PTH, PRKAR1A, CASR, GATA3, GCM2

GO Terms for genes affiliated with Hypoparathyroidism

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17Gene Ontology
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Biological processes related to Hypoparathyroidism according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1parathyroid gland developmentGO:0600179.8GCM2, GATA3
2positive regulation of signal transductionGO:0099679.7PTH, GATA3
3developmental growthGO:0485899.6TBCE, GATA3
4humoral immune responseGO:0069599.6GATA3, AIRE
5response to ethanolGO:0454719.6PTH, GATA3
6cellular calcium ion homeostasisGO:0068749.5GCM2, CASR, PTH
7post-embryonic developmentGO:0097919.5GATA3, TBCE
8anatomical structure morphogenesisGO:0096539.3CASR, GATA3
9positive regulation of transcription from RNA polymerase II promoterGO:0459449.2GATA3, PTH, AIRE

Products for genes affiliated with Hypoparathyroidism

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Hypoparathyroidism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet