MCID: HYP024
MIFTS: 58

Hypoparathyroidism malady

Endocrine diseases category

Summaries for Hypoparathyroidism

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 pseudohypoparathyroidism and hypoparathyroidism-retardation-dysmorphism syndrome. 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 testes, thyroid and kidney, and related mouse phenotypes are endocrine/exocrine gland and skeleton.

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

Aliases & Classifications for Hypoparathyroidism

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hypoparathyroidism 8 42 10 44 60
hypoparathyroidism, idiopathic 42
parathyroid, underactivity of 42
hypoparathyroidism nos 8


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Disease Ontology8 DOID:11199
NCIt39 C78350
ICD9CM27 252.1
MeSH34 D007011
ICD1025 E20.0

Related Diseases for Hypoparathyroidism

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17GeneCards, 18GeneDecks
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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 219)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism30.8PTH, PTHLH, PTH1R, NAGLU
2hypoparathyroidism-retardation-dysmorphism syndrome30.5TBCE
3hypoparathyroidism familial isolated30.5PTH, CASR, GCM2
4hypercalcemia30.4NR1I3, PRKAR1A, CASR, FGF23, CXADR, ALPP
5hyperparathyroidism30.4PRKAR1A, CASR, NR1I3, FGF23, CXADR, ALPP
6hypothyroidism30.3F9, CASR, PIK3C2A, AIRE, PTH
7diabetes mellitus30.2CASR, PIK3C2A, AIRE, NAGLU, PTH, ALPP
8autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.2CASR, AIRE
9hypocalcemia, autosomal dominant30.1CASR, PRKAR1A, CXADR
10graves' disease30.1FGF23, AIRE, CASR
11calcinosis30.1CASR, PIK3C2A, FGF23, PTH, ALPP
12nephrocalcinosis30.0NAGLU, NR1I3, CASR
13thyroid cancer29.9PTH, PRKAR1A
14hypertension29.9PTH
15autoimmune polyendocrine syndrome29.9CASR, AIRE
16pseudohypoparathyroidism type 1b29.9PTH1R, PTHLH, PTH
17osteomalacia29.9CASR, FGF23, PTH1R, PTHLH, PTH, ALPP
18primary hyperparathyroidism29.9ALPP, PTH, PTHLH, PTH1R, CXADR, FGF23
19sarcoidosis29.7ALPP
20hyperthyroidism29.7FGF23, PTH, ALPP
21leukemia29.7F9, CXADR, ALPP
22hyperphosphatemia29.7CASR, FGF23, PTH, ALPP
23brachydactyly29.7PTH
24hepatitis29.7F9, AIRE, ALPP
25osteoarthritis29.7PTHLH
26chronic kidney failure29.7CASR, NR1I3, NAGLU, FGF23, CXADR, PTH1R
27acromegaly29.7PRKAR1A
28osteoporosis29.7ALPP, SPG7, PTH, PTHLH, PTH1R, CXADR
29thyroiditis10.5
30steatorrhea10.3
31kearns-sayre syndrome10.3
32thalassemia10.3
33beta thalassemia10.2
34digeorge syndrome10.2
35celiac disease10.2
36myopathy10.2
37barakat syndrome10.2
38systemic lupus erythematosus10.1
39dementia10.1
40lupus erythematosus10.1
41familial isolated hypoparathyroidism due to agenesis of parathyroid gland10.1
42autoimmune hypoparathyroidism10.1
43impetigo herpetiformis10.1
44ankylosing spondylitis10.1
45adult syndrome10.1
46pernicious anemia10.1
47albright's hereditary osteodystrophy10.1
48candidiasis10.1
49dilated cardiomyopathy10.1
50impetigo10.1

Graphical network of the top 20 diseases related to Hypoparathyroidism:



Diseases related to hypoparathyroidism

Clinical Features for Hypoparathyroidism

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Drugs & Therapeutics for Hypoparathyroidism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hypoparathyroidism

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Hypoparathyroidism

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Anatomical Context for Hypoparathyroidism

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32MalaCards
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MalaCards organs/tissues related to Hypoparathyroidism:

32
Testes, Thyroid, Kidney, Skin, Bone, Heart, Brain, T cells, Pituitary, Liver, Endothelial, Breast

Animal Models for Hypoparathyroidism or affiliated genes

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36MGI
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Publications for Hypoparathyroidism

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50PubMed
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Articles related to Hypoparathyroidism:

(show top 50)    (show all 592)
idTitleAuthorsYear
1
Recovery of parathyroid hormone secretion and function in postoperative hypoparathyroidism: a case series. (24037886)
2013
2
Effect of relative hypoparathyroidism on the responsiveness to recombinant human erythropoietin in chronic hemodialysis patients: a single Saudi center experience. (23816744)
2013
3
Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism. (24083181)
2013
4
Germline mutations affecting GI+11 in hypoparathyroidism. (23802536)
2013
5
An unusual cause of acute renal failure in a patient with surgical hypoparathyroidism: nephrocalcinosis. (22083502)
2012
6
Wilson's disease presenting with hypokalemia, hypoparathyroidism and renal failure. (23547415)
2012
7
Congenital hypoparathyroidism presenting as recurrent seizures in an adult. (22690060)
2012
8
Exacerbation of idiopathic paroxysmal kinesigenic dyskinesia in remission state caused by secondary hypoparathyroidism with hypocalcemia after thyroidectomy: evidence for ion channelopathy. (22361453)
2012
9
Hypoparathyroidism mimicking ankylosing spondylitis and myopathy: a case report. (21876989)
2011
10
Severe isolated primary hypoparathyroidism in an adult. (21333245)
2011
11
Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome. (21606191)
2011
12
Outcome of protracted hypoparathyroidism after total thyroidectomy. (20730856)
2010
13
Therapy of hypoparathyroidism with intact parathyroid hormone. (20094706)
2010
14
A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. (19057839)
2009
15
Functional autoantibodies cause hypoparathyroidism. (19959750)
2009
16
Cessation of dental development in a child with idiopathic hypoparathyroidism: a 5-year follow-up. (19201623)
2009
17
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
18
Hypoparathyroidism after total thyroidectomy: a prospective study. (18283137)
2008
19
Hypogonadism, diabetes mellitus, hypothyroidism, hypoparathyroidism: incidence and prevalence related to iron overload and chelation therapy in patients with thalassaemia major followed from 1980 to 2007 in the Ferrara Centre. (19337172)
2008
20
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. (18426329)
2008
21
Successful treatment of portal hypertension and hypoparathyroidism with a gluten-free diet. (17667060)
2007
22
Striopallidodentate calcification and progressive supranuclear palsy-like phenotype in a patient with idiopathic hypoparathyroidism. (19513345)
2007
23
Calcium-sensing receptor and hypoparathyroidism]. (17660614)
2007
24
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. (17210674)
2007
25
Recurrent laryngeal cancer presenting as delayed hypoparathyroidism. (17450540)
2007
26
Hypomagnesaemia masquerading as hypoparathyroidism. (16909743)
2006
27
The advantage of near-total thyroidectomy to avoid postoperative hypoparathyroidism in benign multinodular goiter. (17021791)
2006
28
A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. (17114920)
2006
29
Prevalence of thyroid autoimmunity in sporadic idiopathic hypoparathyroidism in comparison to type 1 diabetes and premature ovarian failure. (16895958)
2006
30
Tonic-clonic seizures in a patient with primary hypoparathyroidism: a case report. (15164818)
2004
31
Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium. (12970289)
2003
32
Hypovitaminosis D and 'functional hypoparathyroidism' -- the NoNoF (Nottingham Neck of Femur Study). (12446302)
2002
33
Congenital hypoparathyroidism, associated in this case with mental retardation, seizure disorder, and short stature. (11951813)
2002
34
Idiopathic hypoparathyroidism and celiac disease in two patients with previous history of cataract. (10659486)
2000
35
ECG changes in a 25-year-old woman with hypocalcemia due to hypoparathyroidism. Hypocalcemia mimicking acute myocardial infarction. (10893393)
2000
36
Idiopathic hypoparathyroidism with intracranial calcifications and dominant skin manifestations. (11208303)
2000
37
Magnesium deficit in major burns: role in hypoparathyroidism and end-organ parathyroid hormone resistance. (9675754)
1998
38
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. (9832036)
1998
39
The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies. (9220193)
1997
40
mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. (8981958)
1997
41
Hypoparathyroidism and pseudohypoparathyroidism. (9316298)
1997
42
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
43
Low calcium (1.25 mmol/L) dialysate can normalize relative hypoparathyroidism in CAPD patients with low bone turnover. (8865914)
1996
44
Celiac disease and hypoparathyroidism: cross-reaction of endomysial antibodies with parathyroid tissue. (8991626)
1996
45
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. (7808841)
1994
46
Dental manifestations of autoimmune hypoparathyroidism. (8464608)
1993
47
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. (1522843)
1992
48
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. (3534888)
1986
49
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? (6020652)
1967
50
STUDIES OF CALCIUM AND PHOSPHORUS METABOLISM: VI. In Hypoparathyroidism and Chronic Steatorrhea with Tetany with Special Consideration of the Therapeutic Effect of Thyroid. (16694031)
1932

Genetic Variations for Hypoparathyroidism

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Expression for genes affiliated with Hypoparathyroidism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypoparathyroidism

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Pathways for genes affiliated with Hypoparathyroidism

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore
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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
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10.2PTH, PTHLH, PTH1R
4
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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10.2PTH, PTHLH, PTH1R, PRKAR1A

Compounds for genes affiliated with Hypoparathyroidism

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Hypoparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8F9
2gadolinium4410.6PRKAR1A, CASR, NR1I3
322-oxacalcitriol4410.6CASR, PTHLH, ALPP
4calcium carbonate4410.6PTHLH, ALPP, PTH
5cinacalcet44 28 1112.6CXADR, PRKAR1A, NR1I3, CASR
6pamidronate44 49 1112.6PTH, CASR, PTHLH, ALPP
7potassium44 11 2412.6CASR, PIK3C2A, NAGLU
8l-amino acid4410.6NR1I3, CASR, CXADR, PRKAR1A
925-hydroxyvitamin d4410.5ALPP, CASR, PTHLH, PTH, FGF23
10hydroxyapatite4410.5ALPP, FGF23, CASR, PTHLH
11aprotinin44 1111.5PTH, PTHLH, NAGLU, F9
12alendronate44 49 1112.5PTH, ALPP, PTHLH
13colchicine59 44 2 28 1114.4PIK3C2A, NR1I3, NAGLU, PTHLH
14sodium44 2411.4NAGLU, NR1I3, PIK3C2A, CASR
15isoflurane44 1111.4NAGLU, ALPP, PIK3C2A
16verapamil44 49 28 11 2414.4ALPP, CASR, NAGLU, PTHLH
17tcpobop4410.4CXADR, NR1I3
18sevelamer4410.4FGF23, CASR
19ribonucleic acid4410.4NR1I3, CXADR, PTHLH, PTH1R, PTH, CASR
20ibmx44 28 5912.4ALPP, PTHLH, PTH1R, PTH
21prednisolone44 28 1112.4PIK3C2A, PTHLH, ALPP, F9
22cyclic amp44 2411.3PRKAR1A, CASR, GATA3, NR1I3, PTH1R, PTHLH
23inositol 1,4,5 trisphosphate4410.3PTH, PTH1R, NR1I3, CASR
24neomycin4410.3F9, PTHLH, ALPP, PRKAR1A, CXADR, NR1I3
25lysine4410.3PTHLH, F9, CASR, NR1I3, CXADR, SPG7
26adenylate4410.3CXADR, PRKAR1A, PTH1R, PTHLH, PTH, CASR
27thyroxine44 2411.3PIK3C2A, ALPP, PTH, PTHLH
28cyclosporin a44 28 5912.3CASR, F9, PIK3C2A, ALPP, NAGLU, NR1I3
291,25 dihydroxy vitamin d34410.3PTHLH, PTH1R, CXADR, FGF23, ALPP, NR1I3
30calcitriol44 59 11 2413.2PTHLH, CASR, NR1I3, FGF23, CXADR, PTH1R
31heparin44 28 11 2413.2F9, PTHLH, FGF23, ALPP, NAGLU, CXADR
32steroid4410.2GATA3, PTHLH, PTH1R, NAGLU, NR1I3, PRKAR1A
33thymidine44 2411.2F9, ALPP, PTH, PTHLH, PTH1R, CXADR
34phosphorus4410.2PTH1R, NAGLU, PTHLH, PIK3C2A, CASR, PTH
35testosterone44 59 11 2413.2NR1I3, PTHLH, ALPP, PIK3C2A, F9, PTH
36glutamate4410.2PIK3C2A, CASR, ALPP, SPG7, F9, CXADR
37forskolin44 49 1112.2PRKAR1A, PTH1R, PTH
38creatinine4410.1PTHLH, ALPP, SPG7, PTH, FGF23, NAGLU
39dexamethasone44 49 28 1113.1F9, GATA3, PRKAR1A, NR1I3, PTH1R, PTHLH
40magnesium44 11 2412.1PIK3C2A, CASR, PTHLH, PRKAR1A, NR1I3, NAGLU
41glucose4410.1PIK3C2A, PRKAR1A, PTHLH, F9, CASR, NAGLU
42estradiol44 11 2412.1PIK3C2A, NR1I3, PTHLH, PTH, GATA3
43pge24410.1ALPP, PTH, PTHLH, CASR, PTH1R
44alanine4410.1PIK3C2A, NR1I3, F9, ALPP, CASR, NAGLU
45arginine4410.1PIK3C2A, PRKAR1A, ALPP, FGF23, CXADR, PTH
46cpccoet44 2811.0PRKAR1A, CASR
47tyrosine4410.0CASR, GATA3, PIK3C2A, NR1I3, F9, PTH
48serine4410.0CXADR, AIRE, NR1I3, CASR, PTHLH, ALPP
49vitamin d4410.0PRKAR1A, CASR, ALPP, SPG7, PTH, PTHLH
50calcium44 49 11 2412.7FGF23, CXADR, PTH1R, PTHLH, PTH, ALPP

GO Terms for genes affiliated with Hypoparathyroidism

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16Gene Ontology
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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

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  • Antibodies
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Sources for Hypoparathyroidism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet