MCID: HYP024

Hypoparathyroidism malady

Summaries for Hypoparathyroidism

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30NIH Rare Diseases, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: 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.30

MalaCards: Hypoparathyroidism, also known as hypoparathyroidism, idiopathic (subtype), is related to hypoparathyroidism familial isolated and hypoparathyroidism, autosomal dominant. An important gene associated with Hypoparathyroidism is PTH (parathyroid hormone), and among its related pathways are Class B/2 (Secretin family receptors) and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drug ergocalciferol and the compounds cinacalcet and calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and skin, and related mouse phenotypes are hematopoietic system and craniofacial.

Wikipedia: Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid...44 more...

Aliases & Descriptions for Hypoparathyroidism

Sources:
6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 8DISEASES, 32Novoseek , 43UMLS, 19ICD9CM, 27NCIt, 40SNOMED-CT, 24MeSH
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Aliases & Descriptions:

hypoparathyroidism 6 7 30 8 32 43
hypoparathyroidism, idiopathic (subtype) 30
hypoparathyroidism nos (disorder) 6
parathyroid, underactivity of 30
hypoparathyroidism (disorder) 6

External Ids:

ICD9CM19 252.1
SNOMED-CT40 36976004, 267479004, 154697005 190457001, more

Related Diseases for Hypoparathyroidism

Sources:
13GeneCards, 14GeneDecks
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Diseases related to hypoparathyroidism by text searches and GeneDecks gene sharing:

(show top 50)    (show all 398)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism familial isolated31.7GCM2, PTH
2hypoparathyroidism, autosomal dominant30.4GCM2, CASR, PTH
3autoimmune polyendocrine syndrome type 130.1CASR, AIRE, NLRP5
4pseudohypoparathyroidism type 1b29.8GNAS, PTHLH
5hdr syndrome29.2ZFPM2, GATA3
6pseudohypoparathyroidism28.6NAGLU, BGLAP, IGF1, GNAS, CALCA, PTH
7parathyroid disorders28.2PTH, PTHLH
8hypothyroidism27.5RET, CALCA, AIRE, TPO
9hypomagnesemia27.3BGLAP, INS, CASR, GATA3
10hypercalcemia26.8VDR, BGLAP, FGF23, IGF1, ALPP, CARS
11hypercalciuria25.9NAGLU, VDR, BGLAP, FGF23, CASR, CALCA
12hypocalcemia25.6PIK3C2A, GCM2, VDR, BGLAP, FGF23, ALPP
13leukemia/lymphoma25.5BGLAP, MTHFR, IL2RA, CALCA, DYT10, PTHLH
14hyperhomocysteinemia25.2MTHFR, INS, IGF1, F9, CASR
15beta thalassemia24.4NAGLU, VDR, BGLAP, MTHFR, INS, IGF1
16short stature23.9VDR, BGLAP, INS, FGF23, IGF1, ALPP
17osteoarthritis23.4VDR, BGLAP, INS, IL2RA, MCF2L, IGF1
18thalassemia22.8PIK3C2A, NAGLU, VDR, BGLAP, MTHFR, INS
19hyperparathyroidism22.0RET, GCM2, VDR, BGLAP, INS, FGF23
20diabetes mellitus20.9PIK3C2A, RET, NAGLU, VDR, BGLAP, MTHFR
21thyroiditis19.3PIK3C2A, RET, GCM2, NAGLU, VDR, ZFPM2
22leukemia18.0PIK3C2A, VDR, BGLAP, MTHFR, INS, FGF23
23parathyroid carcinoma13.8CASR, PTH, CXADR
24clear cell adenoma13.8ALPP, PTH
25familial isolated hyperparathyroidism13.7RET, CASR, PTH
26ollier disease13.7PTH1R, PTHLH
27parathyroid gland disease13.7RET, CASR, AIRE
28familial hypocalciuric hypercalcemia13.7CASR, SPG7, NR1I3, CXADR
29hyperparathyroidism, neonatal severe primary13.7CASR, NR1I3, PRKAR1A, CXADR
30jansen's metaphyseal chondrodysplasia13.7FGF23, PTH, PTH1R, PTHLH
31metaphyseal chondrodysplasia13.7FGF23, PTH, PTH1R, PTHLH
32oncogenic osteomalacia13.6FGF23, CALCA, PTH, PTH1R
33multiple endocrine neoplasia type 2a13.6RET, CALCA, PTH
34hypocalcemia, autosomal dominant13.6CARS, CASR, PRKAR1A, CXADR
35dysgerminoma of ovary13.6ALPP, PTHLH
36paraneoplastic syndromes13.6FGF23, CALCA, AIRE, PTHLH
37osteochondrodysplasia13.6BGLAP, PTH1R, PTHLH
38familial medullary thyroid carcinoma13.6RET, CALCA
39paget's disease of bone13.6BGLAP, CALCA
40osteosclerosis13.6BGLAP, ALPP, AIRE, PTH, TBCE
41metaphyseal dysplasia13.5AIRE, PTH, PTH1R, PTHLH, RMRP
42progressive osseous heteroplasia13.5BGLAP, ALPP, GNAS
43wermer syndrome13.5GNAS, PTH, PRKAR1A
44hypophosphatasia13.5ALPP, CALCA, SLPI
45humoral hypercalcemia of malignancy13.4BGLAP, FGF23, CASR, PTH1R, PTHLH, NR1I3
46giant cell tumor13.4BGLAP, FGF23, CALCA
47hypervitaminosis d13.4VDR, FGF23, PTH
48vitamin d-dependent rickets type ii13.4VDR, BGLAP, PTH
49hypocalciuric hypercalcemia13.4CASR, CALCA, PTH, SPG7, NR1I3, PRKAR1A
50chst3-related skeletal dysplasia13.4GNAS, PTH1R, PTHLH, RMRP

Graphical network of the top 20 diseases related to hypoparathyroidism:



Graphical network of diseases related to hypoparathyroidism

Clinical Features for Hypoparathyroidism

Drugs & Therapeutics for Hypoparathyroidism

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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 UMLS/NDF-RT:

43 28 ergocalciferol

Genetic Tests for Hypoparathyroidism

Anatomical Context for Hypoparathyroidism

Sources:
22MalaCards
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MalaCards organs/tissues related to hypoparathyroidism:

22
Kidney, Thyroid, Skin, T cells, B cells

Phenotypes for genes affiliated with Hypoparathyroidism

Sources:
25MGI
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MGI Mouse Phenotypes related to hypoparathyroidism:

25 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1hematopoietic system phenotypeMP:00053979.5GATA3, CXADR, PRKAR1A, TBX1, PTHLH, PTPN22
2craniofacial phenotypeMP:00053829.4GATA3, PRKAR1A, TBX1, PTH1R, PTH, GNAS
3endocrine/exocrine gland phenotypeMP:00053799.3PRKAR1A, CTLA4, TBX1, PTH, AIRE, GNAS
4respiratory system phenotypeMP:00053889.3PRKAR1A, TBX1, TBCE, PTPN22, PTH1R, CALCA
5integument phenotypeMP:00107718.9GATA3, SNCA, CTLA4, TBX1, PTHLH, CALCA
6embryogenesis phenotypeMP:00053808.8GATA3, HADHA, CXADR, PRKAR1A, NLRP5, TBX1
7reproductive system phenotypeMP:00053898.7PRKAR1A, NLRP5, SNCA, NR1I3, ALPP, FGF23
8limbs/digits/tail phenotypeMP:00053718.7TBX1, PTHLH, PTH, GNAS, FGF23, MTHFR
9immune system phenotypeMP:00053878.6PTPN22, PTHLH, TBX1, PRKAR1A, CXADR, PTH
10liver/biliary system phenotypeMP:00053708.5HADHA, NR1I3, CTLA4, PTPN22, AIRE, GLA
11renal/urinary system phenotypeMP:00053678.0GLA, PTHLH, SNCA, HADHA, GATA3, CASR
12nervous system phenotypeMP:00036317.7TBCE, TBX1, SPG7, SNCA, PTHLH, AIRE
13digestive/alimentary phenotypeMP:00053817.4PTHLH, TBX1, CTLA4, SNCA, PRKAR1A, CXADR
14normal phenotypeMP:00028737.4TBX1, CTLA4, PRKAR1A, RMRP, GATA3, AIRE
15behavior/neurological phenotypeMP:00053867.0PTHLH, TBCE, TBX1, SPG7, SNCA, CXADR
16cardiovascular system phenotypeMP:00053856.3PTHLH, TBX1, CTLA4, SNCA, PRKAR1A, CXADR
17skeleton phenotypeMP:00053906.2PTH1R, PTHLH, TBX1, SPG7, CTLA4, SNCA
18mortality/agingMP:00107685.6PIK3C2A, PTPN22, TBCE, TBX1, CTLA4, NR1I3
19cellular phenotypeMP:00053845.4PTPN22, PTHLH, TBX1, CTLA4, NR1I3, SNCA
20growth/size phenotypeMP:00053785.3TBX1, PTHLH, PTPN22, PTH1R, SPG7, NR1I3
21homeostasis/metabolism phenotypeMP:00053764.3TBX1, PTHLH, PTPN22, PTH1R, TPO, CTLA4

Publications for genes affiliated with Hypoparathyroidism

Sources:
35PubMed
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Articles related to hypoparathyroidism:

(show top 50)    (show all 88)
idTitleAuthorsYearAffiliating Genes
1AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. (20718774)Cervato S.... Betterle C.2010AIRE
2Identification and characterization of novel parathyr oid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutation s in eight families with autosomal recessive hypoparathyroidism. (20190276)Bowl M.R.... Thakker R.V.2010GCM2
3Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism an d their family members. (19940031)Tomar N.... Goswami R.2010GCM2
4Intragenic GNAS deletion involving exon A/B in pseudo hypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylatio n: potential for misdiagnosis of pseudohypoparathyroidism type 1B. (20008020)Fernandez-Rebollo E.... PAcrez de Nanclares G.2010GNAS
5Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. (19328421)Brown E.M.2009CASR
6Autoimmune hypoparathyroidism in a 12-year-old girl w ith McKusick cartilage hair hypoplasia. (19626344)Bacchetta J.... Peretti N.2009RMRP
7Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. (18712808)Canaff L.... Hendy G.N.2009CASR, GCM2
8Autosomal dominant hypoparathyroidism with severe hypomagnesemia and hypocalcemia, successfully treated with recombinant PTH and continuous subcutaneous magnesium infusion. (18556971)Sanda S.... Newfield R.S.2008CASR
9Successful treatment of vitamin D unresponsive hypoparathyroidism with multipulse subcutaneous infusion of teriparatide. (18703565)Puig-Domingo M.... Halperin I.2008PTH
10Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. (18018479)Preusser M.... Brugger S.2007SNCA
11Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. (18056632)Datta R.... Sly W.S.2007PTH
12Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. (17210674)Ali A.... Thakker R.V.2007GATA3
13A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). (16509533)Adachi M.... Tsuchiya T.2006GATA3
14Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. (16470743)Courtens W.... Parvari R.2006TBCE
15A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. (16697534)Sticht H.... Hashemolhosseini S.2006GCM2
16A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. (17114920)Kobayashi H.... Ogawa Y.2006GATA3
17Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism. (16918956)Sarin R.... Goswami R.2006CASR
18Protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene R620W variant and sporadic idiopathic hypoparathyroidism in Asian Indians. (16893384)Ray D.... Goswami R.2006PTPN22
19Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor. (16983178)Shiohara M.... Koike K.2006CASR, CXADR
20antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). (16595601)Nucera C.... Vermiglio F.2006MTHFR
21GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. (15728199)Thomee C.... Abramowicz M.J.2005GCM2
22Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. (15705923)Zahirieh A.... Pei Y.2005GATA3
23X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. (15533723)Andrew-Nesbit M.... Thakker R.V.2004MCF2L, ATP11A, ATP11C
24Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. (14713274)Goswami R.... Chattopadhyay N.2004TPO, CASR
25Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism. (15356052)Mayer A.... Fabien N.2004CASR
26A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. (14677060)Shiohara M.... Yasuda T.2004CASR, CXADR
27Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. (12389028)Parvari R.... Gelb B.D.2002TBCE
28Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia. (11972098)Chern J.P.... Lin K.H.2002INS
29Familial hypoparathyroidism due to activating mutations in the calcium-sensing receptor gene (11857922)Watanabe T.... Minagawa M.2002CASR
30Fabry's disease and hypoparathyroidism (12218896)Misery L.... Cambazard F.2002GLA
31Comparison 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)Yamamoto M.... Ogata E.2000CASR, SPG7
32Hypercalcemia in a woman with hypoparathyroidism associated with increased parathyroid hormone-related protein during lactation. (15251676)Shomali M.E.... Ross D.S.1999PTHLH
33Symptomatic hypocalcaemia in hypermagnesaemia-induced hypoparathyroidism, during magnesium tocolytic therapy--possible involvement of the calcium-sensing receptor. (10435892)Mayan H.... Farfel Z.1999CASR
34BsmI polymorphism of the vitamin D receptor gene in hyperparathyroid or hypoparathyroid dialysis patients. (10478142)Tagliabue J.... Annoni G.1999VDR
35Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. (9661634)Watanabe T.... Yasuda T.1998CARS, CASR, CXADR
36A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism. (9768650)Winer K.K.... Cutler G.B.1998PTH, NR1I3
37A Ca(2+)-sensing receptor mutation causes hypoparathyroidism by increasing receptor sensitivity to Ca2+ and maximal signal transduction. (9380434)Mancilla E.E.... Baron J.1997SPG7
38Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. (9253358)De Luca F.... Baron J.1997CASR, SPG7
39Low calcium (1.25 mmol/L) dialysate can normalize relative hypoparathyroidism in CAPD patients with low bone turnover. (8865914)Shigematsu T.... Sakai O.1996BGLAP
40Familial isolated hypoparathyroidism: case report with serum PTHrP examination. (8980898)Koshiyama H.... Katakami H.1996PTHLH
41Antibodies targeting the calcium sensing receptor: acquired hypoparathyroidism--an autoimmune disease at last? (8810727)Hofbauer L.C.... Heufelder A.E.1996CASR
42Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. (8733126)Baron J.... Cutler G.B. Jr.1996CASR
43Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. (7808841)Finegold D.N.... Ferrell R.E.1994PTH
44A case of idiopathic hypoparathyroidism associated w ith primary hypothyroidism and diabetes mellitus (7958110)Sumida Y.... Shima T.1994INS
45Progressively increased serum 1,25-dihydroxyvitamin D2 concentration in a hypoparathyroid patient with protracted hypercalcemia due to vitamin D2 intoxication. (8528347)Sato K.... Kobayashi T.1994CALCA
46Serum striated muscle enzymes in autoimmune hypoparathyroidism (8253399)Waysbort Y.... Askenazy B.1993PIK3C2A
47A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. (1302009)Parkinson D.B.... Thakker R.V.1992PTH
48T-lymphocyte activation in adult-onset idiopathic hypoparathyroidism. (1348395)Wortsman J.... Mallette L.E.1992IL2RA
49A case of idiopathic hypoparathyroidism with extrapyramidal signs and insulin-dependent diabetes mellitus (2225658)Okuda S.... Muroga T.1990INS
50Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. (2212001)Arnold A.... Kronenberg H.M.1990PTH

Expression for genes affiliated with Hypoparathyroidism

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hypoparathyroidism

Pathways for genes affiliated with Hypoparathyroidism

Sources:
38Reactome, 41Thomson Reuters, 10EMD Millipore
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Compounds for genes affiliated with Hypoparathyroidism

Sources:
32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB
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Compounds related to hypoparathyroidism according to GeneDecks:

(show top 50)    (show all 143)
idCompoundScoreTop Affiliating Genes
1cinacalcet32 9 9 12.2CALCA, CASR, NR1I3, PRKAR1A, CXADR
2calcium carbonate32 10.2CALCA, BGLAP, ALPP, PTH, PTHLH
3pamidronate32 9 9 12.2CALCA, BGLAP, PTHLH, ALPP, CASR, PTH
4ipriflavone32 10.1SLPI, ALPP, BGLAP, CALCA
522-oxacalcitriol32 10.0ALPP, PTHLH, CASR, BGLAP, VDR
6tartrate32 10.0BGLAP, CALCA, PTHLH, ALPP, SLPI
7glucose32 9.9PTH, HADHA, CASR, GLA, PTHLH, PRKAR1A
8pge232 9.8SNCA, CASR, SLPI, GNAS
9hydroxyapatite32 9.8SLPI, CASR, ALPP, BGLAP, PTHLH, GLA
10lysine32 9.8CTLA4, TPO, PTHLH, CASR, CXADR, NR1I3
11hydroxyproline32 18 10.7SLPI, CALCA, ALPP, BGLAP, PTHLH, PTH
12neomycin32 9.7ALPP, F9, CASR, DYT10, PTHLH, NR1I3
13etidronate32 9.5SLPI, ALPP, CALCA, BGLAP
14pyridinoline32 9.5BGLAP, CALCA, SLPI, IGF1, ALPP, PTHLH
15phosphorus32 9.5CALCA, PTH, PTH1R, SLPI, CASR, ALPP
1624,25-dihydroxyvitamin d332 9.5VDR, BGLAP, CALCA, DYT10, ALPP
17alfacalcidol32 9 9 11.5VDR, BGLAP, SLPI, CALCA
18deoxypyridinoline32 9.3IGF1, SLPI, PTH, CALCA, ALPP, BGLAP
19alendronate32 9 9 11.2IGF1, CALCA, VDR, BGLAP, PTH, PTHLH
20aspartate32 9.2TPO, GLA, F9, VDR, NAGLU, RET
21thiazide32 9.1CASR, BGLAP, VDR, INS, CALCA
22heparin32 9 18 9 12.0SLPI, PIK3C2A, BGLAP, F9, ALPP, PTHLH
23ribonucleic acid32 8.9RET, IGF1, GNAS, CASR, TPO, NR1I3
241,25 dihydroxy vitamin d332 8.9CXADR, NR1I3, PTHLH, ALPP, IGF1, BGLAP
25cyclic amp32 18 9.7PTH1R, DYT10, PTHLH, CALCA, CASR, PTH
26dexamethasone32 42 34 9 9 12.6BGLAP, VDR, IL2RA, F9, ALPP, GATA3
2725-hydroxyvitamin d32 8.6IGF1, BGLAP, VDR, ALPP, CASR, CALCA
28forskolin32 42 9 9 11.5GNAS, DYT10, HADHA, CASR, CALCA, PRKAR1A
29octreotide32 42 9 9 11.4PTHLH, INS, GNAS, IGF1, FGF23, CALCA
30hydrocortisone32 9 9 10.3SLPI, ALPP, INS, IGF1, F9, PTHLH
31ibmx32 8.3PTHLH, PTH1R, PTH, DYT10, ALPP, INS
32calcitriol32 42 9 18 9 12.2ALPP, IGF1, IL2RA, FGF23, BGLAP, VDR
33cysteine32 8.1PRKAR1A, VDR, BGLAP, MTHFR, ALPP, CARS
34steroid32 8.0TPO, GNAS, IGF1, IL2RA, NAGLU, PTHLH
35thyroxine32 18 8.9BGLAP, PIK3C2A, PTHLH, PTH, TPO, VDR
36cyclosporin a32 42 8.9CALCA, NR1I3, SLPI, CTLA4, CASR, ALPP
37adenylate32 7.7DYT10, PTHLH, CXADR, SNCA, PRKAR1A, GNAS
38calcium32 9 18 9 10.5GATA3, HADHA, SLPI, CARS, ALPP, F9
39creatinine32 7.4SPG7, VDR, MTHFR, IL2RA, IGF1, F9
40thymidine32 18 8.4NAGLU, PTH1R, SLPI, CXADR, NR1I3, VDR
41retinoic acid32 42 18 9.1GATA3, PTHLH, IGF1, SLPI, MTHFR, BGLAP
42vitamin d32 7.0SLPI, CXADR, PRKAR1A, NR1I3, CTLA4, CASR
43cholesterol32 9 18 9 9.7PIK3C2A, NAGLU, INS, IGF1, F9, ALPP
44estrogen32 6.6VDR, MTHFR, INS, ALPP, CASR, F9
45alanine32 6.2BGLAP, VDR, MTHFR, PTH1R, INS, HADHA
46glutamate32 6.2SNCA, PRKAR1A, CXADR, NR1I3, CTLA4, PTPN22
47testosterone32 9 18 9 8.9PTHLH, IGF1, F9, ALPP, CALCA, TPO
48arginine32 5.8PIK3C2A, GLA, TPO, PTH, PTPN22, PTHLH
49tyrosine32 5.6F9, GNAS, FGF23, NR1I3, SLPI, IGF1
50serine32 5.2FGF23, INS, MTHFR, BGLAP, VDR, RET

GO Terms for genes affiliated with Hypoparathyroidism

Sources:
12Gene Ontology
See all sources

Cellular components related to hypoparathyroidism according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.1BGLAP, CXADR, SNCA, PTHLH, PTH, GLA

Biological processes related to hypoparathyroidism according to GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1parathyroid gland developmentGO:06001710.4GCM2, TBX1, GATA3
2cAMP metabolic processGO:04605810.3PTHLH, PTH
3osteoblast developmentGO:00207610.3BGLAP, PTH1R, PTHLH
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.3PTHLH, PTH1R, PTH, CALCA
5positive regulation of cAMP biosynthetic processGO:03081910.1CALCA, PTH, PTHLH
6phospholipid translocationGO:04533210.0ATP11C, ATP11A, ATP11B
7cellular calcium ion homeostasisGO:00687410.0PTH, CASR, VDR, GCM2
8positive regulation of inositol phosphate biosynthetic processGO:06073210.0SNCA, PTH1R
9positive regulation of vitamin D 24-hydroxylase activityGO:0109809.9FGF23, VDR
10skeletal system developmentGO:0015019.4VDR, PTHLH, PTH1R, PTH, IGF1, BGLAP
11positive regulation of glycogen biosynthetic processGO:0457259.3PTH, IGF1, INS
12positive regulation of glucose importGO:0463269.2INS, IGF1, PTH
13blood coagulationGO:0075968.6GATA3, CXADR, PRKAR1A, GNAS, F9, IGF1

Molecular functions related to hypoparathyroidism according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid-translocating ATPase activityGO:0040129.7ATP11C, ATP11A, ATP11B
2ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismGO:0156629.5ATP11B, ATP11A, ATP11C
3hormone activityGO:0051798.8INS, IGF1, CALCA, PTH, PTHLH
4protein bindingGO:0055155.4AIRE, PTPN22, SPG7, CTLA4, SNCA, PRKAR1A

Sources for Hypoparathyroidism

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS