MCID: HYP024
MIFTS: 58

Hypoparathyroidism malady

Endocrine diseases category

Summaries for Hypoparathyroidism

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH, 25ICD10
See all sources

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


External Ids:

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

Related Diseases for Hypoparathyroidism

About this section
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 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

About this section

Drugs & Therapeutics for Hypoparathyroidism

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Hypoparathyroidism

About this section

Anatomical Context for Hypoparathyroidism

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hypoparathyroidism:

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

Animal Models for Hypoparathyroidism or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Hypoparathyroidism

About this section
Sources:
50PubMed
See all sources

Articles related to Hypoparathyroidism:

(show top 50)    (show all 592)
idTitleAuthorsYear
1
Hypoparathyroidism. (23729019)
2013
2
Recurrent seizures manifestations in a case of congenital hypoparathyroidism: a case report. (24382229)
2013
3
Neuropsychological dysfunction in idiopathic hypoparathyroidism and its relationship with intracranial calcification and serum total calcium. (23482593)
2013
4
Severe hypomagnesemia and hypoparathyroidism induced by omeprazole. (22627012)
2013
5
Teriparatide in kidney transplant patients with severe hypoparathyroidism. (23897194)
2013
6
Attenuation of postmenopausal bone loss in patients with transient hypoparathyroidism after total thyroidectomy. (24045966)
2013
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
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
10
Total versus near-total thyroidectomy in Graves' disease and their outcome on postoperative transient hypoparathyroidism: study protocol for a randomized controlled trial? (23216901)
2012
11
PTH therapy for hypoparathyroidism impacts bone structure. (23951505)
2012
12
Long-term results of continuous subcutaneous recombinant PTH (1-34) infusion in children with refractory hypoparathyroidism. (21865375)
2011
13
Reading epilepsy as the initial symptom of idiopathic hypoparathyroidism. (21628941)
2011
14
PTH treatment in hypoparathyroidism. (21524246)
2011
15
Prevalence of clinical remission in patients with sporadic idiopathic hypoparathyroidism. (19549251)
2010
16
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. (20718774)
2010
17
Intracranial bilateral symmetric calcification in hypoparathyroidism. (18299367)
2008
18
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation. (17464094)
2007
19
Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia. (16502121)
2006
20
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. (16912130)
2006
21
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene R620W variant and sporadic idiopathic hypoparathyroidism in Asian Indians. (16893384)
2006
22
Fibroblast growth factor (FGF)-23 in patients with hypoparathyroidism]. (16272628)
2005
23
Hypocalcaemia due to nutritional calcium deficiency and hypoparathyroidism in an adult dog. (15675523)
2005
24
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review. (15645691)
2004
25
X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. (15533723)
2004
26
Long-standing idiopathic hypoparathyroidism masking coexistent chronic inflammatory demyelinating polyneuropathy. (15574130)
2004
27
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. (14677060)
2004
28
The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex. (14557429)
2003
29
Hypoparathyroidism and intracranial calcifications in beta-thalassemia major. (11241052)
2001
30
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism. (11102731)
2000
31
Hypoparathyroidism potentiates cardiovascular complications through disturbed calcium metabolism: possible risk of vitamin D(3) analog administration in dialysis patients with end-stage renal disease. (10644903)
2000
32
Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. (10695258)
2000
33
Familial hypoparathyroidism. (10740313)
1999
34
Liver granulomatosis is not an exceptional cause of hypercalcemia with hypoparathyroidism in dialysis patients. (10626831)
1999
35
Hypocalcemia and hyperphosphatemia due to primary hypoparathyroidism in a six-month-old kitten. (9826287)
1998
36
Riedel's thyroiditis presenting with hypothyroidism and hypoparathyroidism: dramatic response to glucocorticoid and thyroxine therapy. (9713573)
1998
37
Hypoparathyroidism after the treatment of laryngopharyngeal carcinoma. (10197144)
1998
38
First successful xenotransplantation of microencapsulated human parathyroid tissue in experimental hypoparathyroidism: long-term function without immunosuppression. (9292437)
1997
39
Lack of mutations of preproparathyroid hormone gene in three kindreds with familial isolated hypoparathyroidism. (9152631)
1997
40
Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication. (8739941)
1996
41
Transition from latent to overt hypoparathyroidism in a child with CATCH 22. (8741050)
1996
42
Familial isolated hypoparathyroidism: case report with serum PTHrP examination. (8980898)
1996
43
The influence of Coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre Syndrome and hypoparathyroidism. (8845718)
1996
44
Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (8045737)
1994
45
Autoimmune hypoparathyroidism and hyper-CK-emia. (2064002)
1991
46
Effects of parathyroid hormone on urinary excretion of N-acetyl-beta-D-glucosaminidase in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (2509030)
1989
47
Hypoparathyroidism with T-cell deficiency and hypoimmunoglobulinemia: response to thymosin therapy. (6972840)
1981
48
Effect of calcium administration on renal responsiveness to parathyroid hormone in pseudohypoparathyroidism type I and II -- in comparison with normals, idiopathic and surgical hypoparathyroidism. (225161)
1979
49
Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. (915513)
1977
50
MONILIASIS, STEATORRHEA, DIABETES MELLITUS, CIRRHOSIS, GALLSTONES, AND HYPOPARATHYROIDISM IN A 10-YEAR-OLD BOY. (14280337)
1965

Genetic Variations for Hypoparathyroidism

About this section

Expression for genes affiliated with Hypoparathyroidism

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 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

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Hypoparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8F9
2gadolinium4410.6CASR, PRKAR1A, NR1I3
322-oxacalcitriol4410.6CASR, PTHLH, ALPP
4calcium carbonate4410.6PTHLH, PTH, ALPP
5cinacalcet44 28 1112.6CASR, PRKAR1A, NR1I3, CXADR
6pamidronate44 49 1112.6CASR, PTHLH, PTH, ALPP
7potassium44 11 2412.6NAGLU, PIK3C2A, CASR
8l-amino acid4410.6CASR, PRKAR1A, NR1I3, CXADR
925-hydroxyvitamin d4410.5CASR, FGF23, PTHLH, PTH, ALPP
10hydroxyapatite4410.5CASR, FGF23, PTHLH, ALPP
11aprotinin44 1111.5F9, NAGLU, PTHLH, PTH
12alendronate44 49 1112.5ALPP, PTH, PTHLH
13colchicine59 44 2 28 1114.4PTHLH, NAGLU, NR1I3, PIK3C2A
14sodium44 2411.4CASR, PIK3C2A, NR1I3, NAGLU
15isoflurane44 1111.4ALPP, NAGLU, PIK3C2A
16verapamil44 49 28 11 2414.4CASR, NAGLU, PTHLH, ALPP
17tcpobop4410.4NR1I3, CXADR
18sevelamer4410.4CASR, FGF23
19ribonucleic acid4410.4CASR, NR1I3, CXADR, PTH1R, PTHLH, PTH
20ibmx44 28 5912.4PTH1R, PTHLH, PTH, ALPP
21prednisolone44 28 1112.4F9, PIK3C2A, PTHLH, ALPP
22cyclic amp44 2411.3CASR, GATA3, PRKAR1A, NR1I3, PTH1R, PTHLH
23inositol 1,4,5 trisphosphate4410.3PTH, PTH1R, NR1I3, CASR
24neomycin4410.3F9, CASR, PRKAR1A, NR1I3, CXADR, PTHLH
25lysine4410.3F9, CASR, NR1I3, CXADR, PTHLH, SPG7
26adenylate4410.3CASR, PRKAR1A, CXADR, PTH1R, PTHLH, PTH
27thyroxine44 2411.3PIK3C2A, PTHLH, PTH, ALPP
28cyclosporin a44 28 5912.3F9, CASR, PIK3C2A, NR1I3, NAGLU, ALPP
291,25 dihydroxy vitamin d34410.3CASR, NR1I3, FGF23, CXADR, PTH1R, PTHLH
30calcitriol44 59 11 2413.2CASR, NR1I3, FGF23, CXADR, PTH1R, PTHLH
31heparin44 28 11 2413.2F9, PIK3C2A, NAGLU, FGF23, CXADR, PTHLH
32steroid4410.2GATA3, PIK3C2A, PRKAR1A, NR1I3, NAGLU, CXADR
33thymidine44 2411.2F9, NR1I3, NAGLU, CXADR, PTH1R, PTHLH
34testosterone44 59 11 2413.2F9, PIK3C2A, NR1I3, PTHLH, PTH, ALPP
35glutamate4410.2F9, CASR, PIK3C2A, PRKAR1A, NR1I3, CXADR
36phosphorus4410.2PTH, PTHLH, PTH1R, FGF23, NAGLU, NR1I3
37forskolin44 49 1112.2PRKAR1A, PTH1R, PTH
38creatinine4410.1F9, CASR, PIK3C2A, NAGLU, FGF23, PTHLH
39dexamethasone44 49 28 1113.1F9, GATA3, PRKAR1A, NR1I3, CXADR, PTH1R
40magnesium44 11 2412.1F9, CASR, PIK3C2A, PRKAR1A, NR1I3, NAGLU
41glucose4410.1F9, CASR, PIK3C2A, PRKAR1A, NAGLU, PTHLH
42estradiol44 11 2412.1PTH, PTHLH, NR1I3, PIK3C2A, GATA3
43pge24410.1ALPP, PTH, PTHLH, PTH1R, CASR
44alanine4410.1F9, CASR, PIK3C2A, NR1I3, NAGLU, CXADR
45arginine4410.1F9, CASR, PIK3C2A, PRKAR1A, NR1I3, FGF23
46cpccoet44 2811.0PRKAR1A, CASR
47tyrosine4410.0F9, CASR, GATA3, PIK3C2A, NR1I3, AIRE
48vitamin d4410.0ALPP, CASR, PRKAR1A, SPG7, PTH, PTHLH
49serine4410.0F9, CASR, NR1I3, AIRE, FGF23, CXADR
50calcium44 49 11 2412.7PRKAR1A, PIK3C2A, GATA3, CASR, F9, GCM2

GO Terms for genes affiliated with Hypoparathyroidism

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypoparathyroidism

About this section
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