MCID: HYP024
MIFTS: 48

Hypoparathyroidism malady

Rare diseases, Endocrine diseases categories

Summaries for Hypoparathyroidism

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NIH Rare Diseases:41 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 based summary: Hypoparathyroidism, also known as hypoparathyroidism, idiopathic, is related to hypoparathyroidism, familial isolated and calcinosis. 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.

Disease Ontology:9 A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (pth), leading to abnormally low ionized calcium levels in the blood.

Wikipedia:63 Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid... more...

Aliases & Classifications for Hypoparathyroidism

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Hypoparathyroidism, Aliases & Descriptions:

Name: Hypoparathyroidism 9 41 11 43 60
Hypoparathyroidism, Idiopathic 41
 
Parathyroid, Underactivity of 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:11199
MeSH33 D007011
ICD9CM27 252.1
NCIt38 C78350
ICD1025 E20, E20.0

Related Diseases for Hypoparathyroidism

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

(show top 50)    (show all 203)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism, familial isolated31.2GCM2, PTH
2calcinosis30.8CASR, PTH
3hypercalcemia30.7PTH, PRKAR1A, CASR
4hypocalcemia, autosomal dominant30.6PRKAR1A, CASR
5hyperparathyroidism30.5CASR, PRKAR1A, PTH
6hypothyroidism30.5CASR, PTH, AIRE
7autoimmune polyendocrine syndrome type 130.4AIRE, CASR
8hyperphosphatemia30.4CASR, PTH
9osteomalacia30.4CASR, PTH
10autoimmune polyendocrine syndrome30.3CASR, AIRE
11graves' disease30.1CASR, AIRE
12thyroid cancer30.0PRKAR1A, PTH
13primary hyperparathyroidism29.8PTH, PRKAR1A, CASR, GCM2
14osteoporosis29.6GCM2, CASR, PRKAR1A, PTH
15pseudohypoparathyroidism10.6
16thyroiditis10.5
17hypoparathyroidism-retardation-dysmorphism syndrome10.5
18renal dysplasia10.5
19hypoparathyroidism, sensorineural deafness, and renal dysplasia10.5
20kearns-sayre syndrome10.4
21omenn syndrome10.4AIRE
22steatorrhea10.4
23androgen insensitivity, partial, with or without breast cancer10.3
24thalassemia10.3
25basal ganglia calcification10.3
26parathyroid gland disease10.3PTH, CASR
27parathyroid carcinoma10.3CASR, PTH
28celiac disease10.3
29myopathy10.3
30rickets10.3CASR, PTH
31osteitis fibrosa10.3CASR, PTH
32renal osteodystrophy10.3PTH, CASR
33digeorge syndrome10.2
34hypoparathyroidism, x-linked10.2
35dahlberg borer newcomer syndrome10.2
36familial isolated hypoparathyroidism due to agenesis of parathyroid gland10.2
37nephrolithiasis10.2CASR, PTH
38systemic lupus erythematosus10.2
39glycogen storage disease vi10.2
40dementia10.2
41lupus erythematosus10.2
42mental retardation10.2
43familial isolated hypoparathyroidism due to impaired pth secretion10.2
44uremia10.2CASR, PTH
45sensorineural hearing loss10.2GATA3, CASR
46hyperparathyroidism, neonatal10.2CASR, PRKAR1A
47secondary syphilis10.2CASR, PTH
48impetigo herpetiformis10.2
49albright's hereditary osteodystrophy10.2
50pernicious anemia10.2

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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Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism

Search NIH Clinical Center for Hypoparathyroidism

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Hypoparathyroidism

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Anatomical Context for Hypoparathyroidism

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MalaCards organs/tissues related to Hypoparathyroidism:

31
Testes, Thyroid, Kidney, Bone, Skin, Brain, Heart, T cells, Liver, Endothelial, Pituitary, Small intestine, Breast

Animal Models for Hypoparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Hypoparathyroidism:

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

Publications for Hypoparathyroidism

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Articles related to Hypoparathyroidism:

(show top 50)    (show all 634)
idTitleAuthorsYear
1
Hypoparathyroidism in a 3-year-old Korean Boy with Sotos Syndrome and a Novel Mutation in NSD1. (25887879)
2015
2
Dental manifestation of primary idiopathic hypoparathyroidism. (25210273)
2014
3
Adult primary hypoparathyroidism: A rare presentation. (24251158)
2013
4
Dental findings in the diagnosis of idiopathic hypoparathyroidism. (24060725)
2013
5
The syndrome of hypoparathyroidism, deafness, and renal anomalies. (23757620)
2013
6
Post-operative partial hypoparathyroidism: an under-recognized disorder (Re: ANZ J. Surg. 2011; 81: 524-7). (22507516)
2012
7
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. (22066718)
2012
8
Carotid intima media thickness in patients with sporadic idiopathic hypoparathyroidism: a pilot study. (22481143)
2012
9
Hypoparathyroidism mimicking ankylosing spondylitis and myopathy: a case report. (21876989)
2011
10
Severe isolated primary hypoparathyroidism in an adult. (21333245)
2011
11
Three dimensional cancellous bone structure in hypoparathyroidism. (19782782)
2010
12
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
13
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. (19659764)
2009
14
Successful treatment of vitamin D unresponsive hypoparathyroidism with multipulse subcutaneous infusion of teriparatide. (18703565)
2008
15
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. (18520110)
2008
16
Intracranial bilateral symmetric calcification in hypoparathyroidism. (18299367)
2008
17
Do NALP5 antibodies correlate with hypoparathyroidism in patients with APS-1? (18711407)
2008
18
Latent hypoparathyroidism in an osteoporotic patient with multiple endocrinopathies and secondary hemochromatosis due to multiple blood transfusions, unmasked by alendronate and glucocorticoid at adrenal crisis. (18344638)
2008
19
A rare cause of heart failure--primary hypoparathyroidism. (17907506)
2007
20
Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. (18018479)
2007
21
Successful treatment of portal hypertension and hypoparathyroidism with a gluten-free diet. (17667060)
2007
22
Reversible dilated hypocalcaemic cardiomyopathy in a patient with primary hypoparathyroidism. (16712680)
2006
23
Heterochromia iridis with primary hypoparathyroidism. (15636313)
2004
24
Hypoparathyroidism with extensive intracerebral calcification in patients with beta-thalassemia major. (12948301)
2003
25
The impact of surgical technique on postoperative hypoparathyroidism in bilateral thyroid surgery: a multivariate analysis of 5846 consecutive patients. (12605179)
2003
26
Risk factors and risk for mortality of mild hypoparathyroidism in hemodialysis patients. (12046038)
2002
27
Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease. (11470934)
2001
28
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. (11571675)
2001
29
High bone mass and hypocalcaemic myopathy in a patient with idiopathic hypoparathyroidism. (10752503)
2000
30
Parathyroid xenotransplantation without immunosuppression in experimental hypoparathyroidism: long-term in vivo function following microencapsulation with a clinically suitable alginate. (11038207)
2000
31
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism. (11102731)
2000
32
Untreated idiopathic hypoparathyroidism associated with infant congenital and perinatal abnormalities. (10052751)
1999
33
Hypercalcemia in a woman with hypoparathyroidism associated with increased parathyroid hormone-related protein during lactation. (15251676)
1999
34
Relative hypoparathyroidism and adynamic bone disease. (10372841)
1999
35
Idiopathic hypoparathyroidism associated with adult rheumatoid arthritis. (10468176)
1999
36
Oestrogen and calcium homeostasis in women with hypoparathyroidism. (10550094)
1999
37
Hypocalcemia and hyperphosphatemia due to primary hypoparathyroidism in a six-month-old kitten. (9826287)
1998
38
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
39
Association between vitamin D receptor gene polymorphism and relative hypoparathyroidism in patients with chronic renal failure. (9335382)
1997
40
Incidence and clinical characteristics of hypoparathyroidism in dialysis patients. (9350686)
1997
41
Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features. (10830039)
1996
42
Reversible dementia in idiopathic hypoparathyroidism associated with normocalcemia. (8757023)
1996
43
Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (8045737)
1994
44
Serum striated muscle enzymes in autoimmune hypoparathyroidism]. (8253399)
1993
45
Generalized pustular psoriasis and idiopathic hypoparathyroidism. (1892417)
1991
46
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. (3534888)
1986
47
Idiopathic hypoparathyroidism and steatorrhea: a new aid in management. (4443861)
1974
48
A case of the Capgras syndrome in association with pseudo-hypoparathyroidism. (4826852)
1974
49
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)
1967
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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Search GEO for disease gene expression data for Hypoparathyroidism.

Pathways for genes affiliated with Hypoparathyroidism

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Pathways related to Hypoparathyroidism according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Hypoparathyroidism

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Hypoparathyroidism according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1pamidronate43 49 1212.0CASR, PTH
225-hydroxyvitamin d439.9CASR, PTH
3phosphorus439.9PTH, CASR
4cpccoet43 2810.8CASR, PRKAR1A
5gadolinium439.7PRKAR1A, CASR
6cinacalcet43 28 1211.7PRKAR1A, CASR
7l-amino acid439.7PRKAR1A, CASR
81,25 dihydroxy vitamin d3439.6CASR, PTH
9neomycin439.6CASR, PRKAR1A
10vitamin d439.4CASR, PRKAR1A, PTH
11forskolin43 49 1211.3CASR, PRKAR1A, PTH
12adenylate439.2PTH, PRKAR1A, CASR
13magnesium43 24 1211.2CASR, PRKAR1A, PTH
14arginine439.1CASR, PRKAR1A, PTH
15cyclic amp43 2410.0GATA3, CASR, PRKAR1A, PTH
16dexamethasone43 49 28 1211.8PTH, PRKAR1A, GATA3
17tyrosine438.7AIRE, PTH, CASR, GATA3
18calcium43 49 24 1211.5PTH, PRKAR1A, CASR, GATA3, GCM2

GO Terms for genes affiliated with Hypoparathyroidism

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Biological processes related to Hypoparathyroidism according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1parathyroid gland developmentGO:00600179.8GCM2, GATA3
2positive regulation of signal transductionGO:00099679.7PTH, GATA3
3developmental growthGO:00485899.6TBCE, GATA3
4humoral immune responseGO:00069599.6GATA3, AIRE
5response to ethanolGO:00454719.6GATA3, PTH
6cellular calcium ion homeostasisGO:00068749.5GCM2, CASR, PTH
7post-embryonic developmentGO:00097919.5GATA3, TBCE
8anatomical structure morphogenesisGO:00096539.3CASR, GATA3
9positive regulation of transcription from RNA polymerase II promoterGO:00459449.2GATA3, PTH, AIRE

Products for genes affiliated with Hypoparathyroidism

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Sources for Hypoparathyroidism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet