MCID: HYP024
MIFTS: 57

Hypoparathyroidism malady

Endocrine category

Summaries for Hypoparathyroidism

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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-retardation-dysmorphism syndrome and hypoparathyroidism familial isolated. An important gene associated with Hypoparathyroidism is PTH (parathyroid hormone), and among its related pathways are Osteoblast Signaling and Endochondral Ossification. The drug ergocalciferol and the compounds estrogen and gadolinium have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are endocrine/exocrine gland and skeleton.

Wikipedia:64 Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid... more...

Aliases & Classifications for Hypoparathyroidism

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 27ICD9CM, 35MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hypoparathyroidism 8 43 10 45 61
hypoparathyroidism, idiopathic 43
parathyroid, underactivity of 43
hypoparathyroidism nos 8


External Ids:

Disease Ontology8 DOID:11199
NCIt40 C78350
ICD9CM27 252.1
MeSH35 D007011
ICD1025 E20.0

Related Diseases for Hypoparathyroidism

Sources:
17GeneCards, 18GeneDecks
See all sources

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 222)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism-retardation-dysmorphism syndrome30.7TBCE
2hypoparathyroidism familial isolated30.6PTH, CASR, GCM2
3hypercalcemia30.5NR1I3, PRKAR1A, CASR, FGF23, CXADR, ALPP
4autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.2CASR, AIRE
5hyperparathyroidism, neonatal30.1CXADR, NR1I3, PRKAR1A, CASR
6graves' disease30.1FGF23, AIRE, CASR
7hypocalcemia, autosomal dominant30.1CASR, PRKAR1A, CXADR
8nephrocalcinosis30.1NAGLU, NR1I3, CASR
9short stature29.9RMRP
10thyroid cancer29.9PTH, PRKAR1A
11autoimmune polyendocrine syndrome29.9CASR, AIRE
12osteomalacia29.9CASR, FGF23, PTH1R, PTHLH, PTH, ALPP
13primary hyperparathyroidism29.9ALPP, PTH, PTHLH, PTH1R, CXADR, FGF23
14pseudohypoparathyroidism type 1b29.7PTH1R, PTHLH, PTH
15hyperphosphatemia29.7CASR, FGF23, PTH, ALPP
16brachydactyly29.7PTH
17osteoarthritis29.7PTHLH
18acromegaly29.7PRKAR1A
19osteoporosis29.7ALPP, SPG7, PTH, PTHLH, PTH1R, CXADR
20autoimmune hypoparathyroidism10.5
21renal dysplasia10.5
22hypoparathyroidism, autosomal dominant10.4
23steatorrhea10.3
24kearns-sayre syndrome10.3
25thalassemia10.3
26say syndrome10.3
27beta thalassemia10.3
28thyroiditis10.3
29digeorge syndrome10.2
30celiac disease10.2
31barakat syndrome10.2
32hypoparathyroidism, autosomal recessive10.2
33riedel thyroiditis10.2
34n syndrome10.2
35chromosome 22q deletion10.2
36familial deafness10.2
37hypoparathyroidism x-linked10.2
38systemic lupus erythematosus10.2
39impetigo herpetiformis10.1
40ankylosing spondylitis10.1
41adult syndrome10.1
42pernicious anemia10.1
43spondylitis10.1
44char syndrome10.1
45mental retardation10.1
46autoimmune polyendocrine syndrome type 110.1
47dahlberg borer newcomer syndrome10.1
48hypoparathyroidism short stature mental retardation10.1
49fahr's syndrome10.1
50paroxysmal choreoathetosis10.1

Graphical network of the top 20 diseases related to Hypoparathyroidism:



Diseases related to hypoparathyroidism

Clinical Features for Hypoparathyroidism

Drugs & Therapeutics for Hypoparathyroidism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Hypoparathyroidism

Anatomical Context for Hypoparathyroidism

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypoparathyroidism:

33
Skin, Liver, Brain, Kidney, Heart, Skeletal muscle, Small intestine, Thyroid, Adrenal gland, Breast, T cells, B cells, Endothelial, Pituitary

Animal Models for Hypoparathyroidism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hypoparathyroidism

Sources:
51PubMed
See all sources

Articles related to Hypoparathyroidism:

(show top 50)    (show all 591)
idTitleAuthorsYear
1
Pure red cell aplasia as a presenting feature in systemic lupus erythematosus and association with thymoma, hypothyroidism and hypoparathyroidism: a case report and literature review. (24338260)
2014
2
Dental findings in the diagnosis of idiopathic hypoparathyroidism. (24060725)
2013
3
Reversible myocardial failure in a cat with primary hypoparathyroidism. (23492352)
2013
4
Prolonged hypocalcaemia after pamidronate infusion in Riedel's thyroiditis associated hypoparathyroidism. (24127509)
2013
5
Reversible dilated cardiomyopathy caused by idiopathic hypoparathyroidism. (24009458)
2013
6
Transient and permanent hypoparathyroidism following thyroidectomy. (23232482)
2012
7
Calcium-alkali syndrome in post-surgical hypoparathyroidism. (21954111)
2012
8
Rare presentation of a common disease: Idiopathic hypoparathyroidism presenting with extrapyramidal symptoms and status epilepticus. (23226661)
2012
9
First report of anti-calcium-sensing receptor antibodies in a patient with Sjogren's syndrome and primary hypoparathyroidism. (21454310)
2011
10
Genetics of hypoparathyroidism and pseudohypoparathyroidism. (21985977)
2011
11
Parathyroid hormone stimulates circulating osteogenic cells in hypoparathyroidism. (20881259)
2011
12
Severe hypercalcemia in a patient treated for hypoparathyroidism with calcitriol. (20679997)
2010
13
Primary hypoparathyroidism: psychosis in postpartum period. (21189701)
2010
14
Development of systemic lupus erythematosus in a patient with hypoparathyroidism: a case report and review of the literature. (20536604)
2010
15
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. (19328421)
2009
16
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
17
Successful treatment of vitamin D unresponsive hypoparathyroidism with multipulse subcutaneous infusion of teriparatide. (18703565)
2008
18
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. (18520110)
2008
19
Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism. (18492754)
2008
20
Cardiomyopathy and pericardial effusion in a 7 year-old boy with beta-thalassaemia major, severe primary hypothyroidism and hypoparathyroidism due to iron overload. (19337175)
2008
21
Hypoparathyroidism in systemic lupus erythematosus. (17336124)
2007
22
Hypoparathyroidism in adult patients with Beta-thalassemia major. (21748106)
2007
23
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). (16595601)
2006
24
Extensive brain calcification and dementia in postsurgical hypoparathyroidism. (16275848)
2005
25
Hypoparathyroidism simulating ankylosing spondylitis. (15681258)
2005
26
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. (15214756)
2004
27
Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. (14713274)
2004
28
Hypovitaminosis D and "functional hypoparathyroidism"--the NoNoF (Nottingham Neck of Femur Study). (12851201)
2003
29
Hypoparathyroidism and pseudohypoparathyroidism. (12070488)
2002
30
Hypovitaminosis D and 'functional hypoparathyroidism'-the NoNoF (Nottingham Neck of Femur) study. (11742774)
2001
31
Transient hypoparathyroidism due to amphotericin B-induced hypomagnesemia in a patient with beta-thalassemia. (11573853)
2001
32
A case of hereditary angioedema associated with idiopathic hypoparathyroidism. (11855162)
2001
33
Idiopathic hypoparathyroidism with extensive intracranial calcification associated with kinesogenic choreoathetosis. (11198806)
2000
34
Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? (11134112)
2000
35
Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome. (10861712)
2000
36
Idiopathic hypoparathyroidism in a 13 year old girl presenting with convulsion. (22912303)
2000
37
Relative hypoparathyroidism and adynamic bone disease. (10372841)
1999
38
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (10487661)
1999
39
Hypoparathyroidism secondary to Riedel's thyroiditis. A case report and a review of the literature. (10528426)
1999
40
Primary hypoparathyroidism in two horses. (10494394)
1999
41
Unusual neuropsychiatric manifestations of hypoparathyroidism: report of two cases. (9640841)
1998
42
A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism. (9768650)
1998
43
Reversible dementia in idiopathic hypoparathyroidism associated with normocalcemia. (8757023)
1996
44
Clinical results of human cultured parathyroid cell allotransplantation in the treatment of surgical hypoparathyroidism. (8962377)
1996
45
Hypocalcemia due to hypoparathyroidism in a dog. (22074522)
1996
46
Albright's hereditary osteodystrophy with hypoparathyroidism. (10999072)
1996
47
Long-standing latent idiopathic hypoparathyroidism discovered during concurrent central nervous system disease. (1441480)
1992
48
Riedel's thyroiditis associated with Hashimoto's thyroiditis, hypoparathyroidism, and retroperitoneal fibrosis. (1761813)
1991
49
Idiopathic hypoparathyroidism; observations on two cases, one complicate by moniliasis and idiopathic steatorrhea and one with an unusual degree of calcium deposition in the bones. (13123751)
1953
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

Genetic Variations for Hypoparathyroidism

Expression for genes affiliated with Hypoparathyroidism

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore
See all sources

Pathways related to Hypoparathyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2FGF23, PTH1R, PTH
210.2PTH, PTHLH, PTH1R
3
Hide members
10.2PTH, PTHLH, PTH1R
4
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.2PTH, PTHLH, PTH1R, PRKAR1A

Compounds for genes affiliated with Hypoparathyroidism

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Hypoparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8F9
2gadolinium4510.6CASR, PRKAR1A, NR1I3
322-oxacalcitriol4510.6CASR, PTHLH, ALPP
4calcium carbonate4510.6PTHLH, PTH, ALPP
5cinacalcet45 29 1112.6CASR, PRKAR1A, NR1I3, CXADR
6pamidronate45 50 1112.6CASR, PTHLH, PTH, ALPP
7potassium45 11 2412.6NAGLU, PIK3C2A, CASR
8l-amino acid4510.6CASR, PRKAR1A, NR1I3, CXADR
925-hydroxyvitamin d4510.5CASR, FGF23, PTHLH, PTH, ALPP
10hydroxyapatite4510.5CASR, FGF23, PTHLH, ALPP
11aprotinin45 1111.5F9, NAGLU, PTHLH, PTH
12alendronate45 50 1112.5ALPP, PTH, PTHLH
13colchicine60 45 2 29 1114.4PTHLH, NAGLU, NR1I3, PIK3C2A
14sodium45 2411.4CASR, PIK3C2A, NR1I3, NAGLU
15isoflurane45 1111.4ALPP, NAGLU, PIK3C2A
16verapamil45 50 29 11 2414.4CASR, NAGLU, PTHLH, ALPP
17tcpobop4510.4NR1I3, CXADR
18sevelamer4510.4CASR, FGF23
19ribonucleic acid4510.4CASR, NR1I3, CXADR, PTH1R, PTHLH, PTH
20ibmx45 29 6012.4PTH1R, PTHLH, PTH, ALPP
21prednisolone45 29 1112.4F9, PIK3C2A, PTHLH, ALPP
22cyclic amp45 2411.3CASR, GATA3, PRKAR1A, NR1I3, PTH1R, PTHLH
23inositol 1,4,5 trisphosphate4510.3PTH, PTH1R, NR1I3, CASR
24neomycin4510.3F9, CASR, PRKAR1A, NR1I3, CXADR, PTHLH
25lysine4510.3F9, CASR, NR1I3, CXADR, PTHLH, SPG7
26adenylate4510.3CASR, PRKAR1A, CXADR, PTH1R, PTHLH, PTH
27thyroxine45 2411.3PIK3C2A, PTHLH, PTH, ALPP
28cyclosporin a45 29 6012.3F9, CASR, PIK3C2A, NR1I3, NAGLU, ALPP
291,25 dihydroxy vitamin d34510.3CASR, NR1I3, FGF23, CXADR, PTH1R, PTHLH
30calcitriol45 60 11 2413.2CASR, NR1I3, FGF23, CXADR, PTH1R, PTHLH
31heparin45 29 11 2413.2F9, PIK3C2A, NAGLU, FGF23, CXADR, PTHLH
32steroid4510.2GATA3, PIK3C2A, PRKAR1A, NR1I3, NAGLU, CXADR
33thymidine45 2411.2F9, NR1I3, NAGLU, CXADR, PTH1R, PTHLH
34testosterone45 60 11 2413.2F9, PIK3C2A, NR1I3, PTHLH, PTH, ALPP
35glutamate4510.2F9, CASR, PIK3C2A, PRKAR1A, NR1I3, CXADR
36phosphorus4510.2PTH, PTHLH, PTH1R, FGF23, NAGLU, NR1I3
37forskolin45 50 1112.2PRKAR1A, PTH1R, PTH
38creatinine4510.1F9, CASR, PIK3C2A, NAGLU, FGF23, PTHLH
39dexamethasone45 50 29 1113.1F9, GATA3, PRKAR1A, NR1I3, CXADR, PTH1R
40magnesium45 11 2412.1F9, CASR, PIK3C2A, PRKAR1A, NR1I3, NAGLU
41glucose4510.1F9, CASR, PIK3C2A, PRKAR1A, NAGLU, PTHLH
42estradiol45 11 2412.1PTH, PTHLH, NR1I3, PIK3C2A, GATA3
43pge24510.1ALPP, PTH, PTHLH, PTH1R, CASR
44alanine4510.1F9, CASR, PIK3C2A, NR1I3, NAGLU, CXADR
45arginine4510.1F9, CASR, PIK3C2A, PRKAR1A, NR1I3, FGF23
46cpccoet45 2911.0PRKAR1A, CASR
47tyrosine4510.0F9, CASR, GATA3, PIK3C2A, NR1I3, AIRE
48vitamin d4510.0ALPP, CASR, PRKAR1A, SPG7, PTH, PTHLH
49serine4510.0F9, CASR, NR1I3, AIRE, FGF23, CXADR
50calcium45 50 11 2412.7PRKAR1A, PIK3C2A, GATA3, CASR, F9, GCM2

GO Terms for genes affiliated with Hypoparathyroidism

Sources:
16Gene Ontology
See all sources

Biological processes related to Hypoparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cAMP metabolic processGO:04605810.4PTH, PTHLH
2positive regulation of signal transductionGO:00996710.4PTH, GATA3
3cellular phosphate ion homeostasisGO:03064310.3FGF23, GCM2
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.3PTH, PTHLH, PTH1R
5parathyroid gland developmentGO:06001710.2GCM2, GATA3
6cellular calcium ion homeostasisGO:00687410.0PTH, CASR, GCM2

Molecular functions related to Hypoparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:05142810.3PTH, PTHLH

Products for genes affiliated with Hypoparathyroidism

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypoparathyroidism

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