MCID: PSD015
MIFTS: 55

Pseudohypoparathyroidism malady

Endocrine diseases category

Summaries for Pseudohypoparathyroidism

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Pseudohypoparathyroidism is a genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone), but is caused by a lack of response to parathyroid hormone rather than having too little of the hormone itself. this condition is very similar to hypoparathyroidism, with low calcium levels and high phosphate levels in the blood. this results in the characteristic symptoms which are generally first seen in childhood. there are two different types of pseudohypoparathyroidism, both of which are caused by abnormal genes. type 1 can be further divided into three sub-types. click on the links below for more information on the various types of pseudohypoparathyroidism.pseudohypoparathyroidism type 1apseudohypoparathyroidism type 1bpseudohypoparathyroidism type 1cpseudohypoparathyroidism type 2 last updated: 10/7/2011

MalaCards: Pseudohypoparathyroidism is related to hypoparathyroidism and pseudopseudohypoparathyroidism. An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS complex locus), and among its related pathways are Osteoblast Signaling and Endochondral Ossification. The compounds pge2 and estrogen have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and thyroid, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Wikipedia:63 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

Description from OMIM:46 612462,603233

Aliases & Classifications for Pseudohypoparathyroidism

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

pseudohypoparathyroidism 8 42 10 44 60


External Ids:

Disease Ontology8 DOID:4184
MeSH34 D011547
ICD1025 E20.1

Related Diseases for Pseudohypoparathyroidism

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17GeneCards, 18GeneDecks
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Diseases in the Pseudohypoparathyroidism Type 1c family:

pseudohypoparathyroidism Pseudohypoparathyroidism Type 2
Pseudohypoparathyroidism Type 1b

Diseases related to Pseudohypoparathyroidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.9BGLAP, PTH, PTHLH, CALCA, NAGLU, PTH1R
2pseudopseudohypoparathyroidism30.7GNAS
3pseudohypoparathyroidism type 1b30.6PTH, PTHLH, PTH1R, STX16, GNAS-AS1, GNAS
4obesity30.5GHRH, GNAS, ADCY10, TRH
5hypothyroidism30.5CHKA, GHRH, TRH, PTH, ADCY10, GNAS
6hyperparathyroidism30.5PTHLH, ADCY10, PTH, CALCA, BGLAP
7rickets30.4PTH, BGLAP
8thyroiditis30.3TRH, CALCA
9calcinosis30.3PTH
10acrodysostosis30.2GNAS
11brachydactyly30.2PTH, ADCY10, GNAS
12osteitis fibrosa30.2GNAS, PTH, BGLAP
13congenital hypothyroidism30.1GNAS
14hypertension30.1CALCA, PTH
15mccune albright syndrome30.0GNAS, APC
16renal osteodystrophy30.0BGLAP, PTH, CALCA
17primary hyperparathyroidism30.0CALCA, PTH, PTH1R, BGLAP, PTHLH
18osteosclerosis29.8PTH
19amenorrhea29.8TRH
20diabetes insipidus29.8GHRH, TRH
21osteoporosis29.7PTH1R, PTH, PTHLH, BGLAP, CALCA
22osteomalacia29.7GNAS, PTHLH, PTH1R, CALCA, BGLAP, PTH
23hypercalcemia29.7ADCY10, PTHLH, PTH, PTH1R, CALCA, BGLAP
24diabetes mellitus29.7CALCA, PTH, BGLAP, HP, NAGLU
25hyperthyroidism29.7BGLAP, ADCY10, PTH, GHRH, GNAS, TRH
26albright's hereditary osteodystrophy10.6
27pseudohypoparathyroidism type 1c10.4
28pseudohypoparathyroidism type 210.4
29cerebritis10.2
30morbid obesity10.0
31hyperostosis10.0
32retinitis10.0
33insulin resistance10.0GNAS
34nephrolithiasis10.0PTH
35osteonecrosis10.0BGLAP
36sarcoma10.0ADCY10
37paraneoplastic syndromes10.0PTHLH
38craniopharyngioma10.0TRH
39polycystic ovary syndrome10.0GHRH
40glucagonoma10.0GHRH
41thyrotoxicosis10.0TRH
42anorexia nervosa10.0GHRH
43thyroid adenoma10.0GNAS, APC
44nontoxic goiter10.0BGLAP
45paget's disease of bone10.0CALCA
46metaphyseal dysplasia10.0PTH1R, PTHLH
47multiple endocrine neoplasia10.0GNAS, CALCA
48pancreatic islet cell tumors10.0CALCA, PTHLH
49ollier disease10.0PTHLH, PTH1R
50uremia10.0PTH, ADCY10

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Clinical Features for Pseudohypoparathyroidism

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46OMIM
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Clinical features from OMIM:

612462,603233

Drugs & Therapeutics for Pseudohypoparathyroidism

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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 Pseudohypoparathyroidism

Genetic Tests for Pseudohypoparathyroidism

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Anatomical Context for Pseudohypoparathyroidism

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32MalaCards
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MalaCards organs/tissues related to Pseudohypoparathyroidism:

32
Bone, Testes, Thyroid, Spinal cord, Kidney, Skin, Pituitary, Cortex, Brain, Heart, Adipocyte

Animal Models for Pseudohypoparathyroidism or affiliated genes

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36MGI
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Publications for Pseudohypoparathyroidism

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50PubMed
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Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 513)
idTitleAuthorsYear
1
Congestive heart failure: an unusual presentation of pseudohypoparathyroidism. (23823262)
2013
2
Clinical utility gene card for: pseudohypoparathyroidism. (22968134)
2013
3
Pseudohypoparathyroidism, rare cause of hypocalcaemia! (24298504)
2013
4
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with Pseudohypoparathyroidism type I and GNAS epigenetic alterations. (24423294)
2013
5
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
6
Pseudohypoparathyroidism with diabetes mellitus and hypothyroidism. (23315110)
2012
7
Vitamin D deficiency in two young adults with biochemical findings resembling pseudohypoparathyroidism type I and type II. (20505259)
2010
8
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. (19916794)
2010
9
The administration of an active vitamin D(3) analogue reduced the serum concentrations of 1-84 and truncated parathyroid hormone in pseudohypoparathyroidism type Ib patients. (20508384)
2010
10
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. (19858129)
2010
11
Pseudohypoparathyroidism manifesting with paroxysmal dyskinesias and seizures. (19185018)
2009
12
New mutation type in pseudohypoparathyroidism type Ia. (18394017)
2008
13
Pseudohypoparathyroidism type I b and genomic imprinting]. (17660619)
2007
14
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. (16831926)
2006
15
Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism. (16789631)
2006
16
Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. (11926205)
2002
17
Periodic changes in behaviour in a child with pseudohypoparathyroidism. (11727584)
2001
18
Pseudohypoparathyroidism with normocalcemia. (11686549)
2001
19
Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. (10695258)
2000
20
Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. (10094437)
1999
21
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (9751745)
1998
22
Paroxysmal dyskinesia in a patient with pseudohypoparathyroidism. (9686786)
1998
23
GNAS1 mutational analysis in pseudohypoparathyroidism. (9876352)
1998
24
Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. (9100569)
1997
25
Primary hypothyroidism revealing pseudohypoparathyroidism without hypocalcemia and hyperphosphoremia]. (9230993)
1997
26
Therapy-resistant seizures in pseudohypoparathyroidism. A case report. (8521197)
1995
27
Transient pseudohypoparathyroidism of the neonate. (7655638)
1995
28
Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case. (8129452)
1994
29
The modulatory effect of endogenous parathyroid hormone on the action of hydrochlorothiazide in pseudohypoparathyroidism type I. (8082049)
1994
30
Pseudohypoparathyroidism with striopallidodentate calcification--a case report and review of the literature. (2661891)
1989
31
Deficient erythrocyte membrane Gs alpha activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism. (2507735)
1989
32
Parathyroid hormone challenge in patients with pseudohypoparathyroidism and other hypocalcemic disorders. (2834506)
1988
33
Intracerebral bilateral symmetrical calcifications, demonstrated in a patient with pseudohypoparathyroidism. (3208470)
1988
34
Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism. (2999179)
1986
35
Inheritance of pseudohypoparathyroidism. (3976598)
1985
36
Pseudohypoparathyroidism and related disorders. (6325373)
1983
37
Inhibition of cytochemical bioactivity of parathyroid hormone by plasma in pseudohypoparathyroidism type I. (7076801)
1982
38
Pseudohypoparathyroidism: the molecular basis for hormone resistance--a retrospective. (6287258)
1982
39
Effect of dibutyryl adenosine 3',5'-monophosphate administration on plasma concentrations of 1,25-dihydroxyvitamin D in pseudohypoparathyroidism type I. (6270183)
1981
40
Cardiac failure in pseudohypoparathyroidism. (7251389)
1981
41
Lack of response of 1,25-dihydroxycholecalciferol to exogenous parathyroid hormone in a patient with treated pseudohypoparathyroidism. (6266703)
1981
42
Pseudohypoparathyroidism presenting with rickets. (7419691)
1980
43
Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism. (6252235)
1980
44
Effect of parathyroid hormone on 1,25-dihydroxyvitamin D formation in type I pseudohypoparathyroidism. (6255001)
1980
45
Spinal cord compression: an unusual manifestation of pseudohypoparathyroidism. (7395834)
1980
46
Pseudohypoparathyroidism type II and anticonvulsant rickets. (230052)
1979
47
The actions of parathyroid hormone on bone: relation to bone remodeling and turnover, calcium homeostasis, and metabolic bone disease. Part IV of IV parts: The state of the bones in uremic hyperaparathyroidism--the mechanisms of skeletal resistance to PTH in renal failure and pseudohypoparathyroidism and the role of PTH in osteoporosis, osteopetrosis, and osteofluorosis. (787723)
1976
48
Pseudohypoparathyroidism. Disappearance of the resistance to parathyroid extract during treatment with vitamin D. (1138547)
1975
49
Effect of chlorpropamide on renal response to parathyroid hormone in normal subjects and in patients with hypoparathyroidism and pseudohypoparathyroidism. (169346)
1975
50
Brachydactyly and pseudo-pseudohypoparathyroidism. (5703222)
1968

Genetic Variations for Pseudohypoparathyroidism

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Expression for genes affiliated with Pseudohypoparathyroidism

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

Search GEO for disease gene expression data for Pseudohypoparathyroidism.

Pathways for genes affiliated with Pseudohypoparathyroidism

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37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 51QIAGEN, 12EMD Millipore, 29KEGG
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Pathways related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PTH, PTH1R
210.0PTH, PTHLH, PTH1R
3
Hide members
10.0PTH, PTHLH, PTH1R
4
Hide members
10.0GNA15, GNA11
5
Hide members
9.9GNA15, GNAS, GNA11
69.9GNA15, GNAS, GNA11
79.8GNAL, GNA15, GNA11
8
Hide members
9.8GNA11, GNA15, GNAL
9
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.7PTH, PTH1R, CALCA, BGLAP
109.7CALCA, GNAS, GNA15, ADCY10
119.7GNA11, GNAS, GNA15, GNAL
12
Hide members
9.7GNA11, GNAS, GNA15, GNAL
13
Signal transduction cAMP signaling
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9.7GNA11, GNAS, GNA15, GNAL
149.7GNA11, GNAS, GNA15, GNAL
159.6GNA11, GNA15, GNAL, APC
16
Hide members
9.6GNA11, GNA15, GNAL, APC
17
Hide members
9.6GNA11, GNA15, GNAL, GHRH
18
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.4PTH, BGLAP, GNA11, GNAS, PTH1R, PTHLH
19
Hide members
9.2CALCA, GNAS, GHRH, TRH, PTH1R, PTHLH
20
Hide members
8.4CALCA, GNA11, GNAS, GNA15, GNAL, APC

Compounds for genes affiliated with Pseudohypoparathyroidism

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

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1pge24410.8PTH1R
2estrogen4410.6TRH
3adenosine 3,5-cyclic monophosphorothioate4410.3CALCA, ADCY10, PTHLH
4forskolin44 49 1112.2PTH, PTH1R, GHRH, CALCA
5calcium carbonate4410.2BGLAP, PTHLH, CALCA, PTH
6teriparatide44 1111.2PTH1R, CALCA, BGLAP
7pamidronate44 49 1112.1PTH, BGLAP, PTHLH, CALCA
824,25-dihydroxyvitamin d34410.1BGLAP, CALCA, ADCY10
9clodronate44 49 1112.1PTHLH, CALCA
10alendronate44 49 1112.1CALCA, PTH, PTHLH, BGLAP
118-bromo-cgmp, sodium salt5910.1GNAS, GNA11, GNA15, GNAL
12pertussis toxin5910.1GNAL, GNA15, GNAS, GNA11
13suramin hexasodium salt5910.1GNA15, GNAS, GNAL, GNA11
14g-protein antagonist peptide5910.0GNA11, GNAL, GNAS, GNA15
15gallein5910.0GNA15, GNA11, GNAL, GNAS
1625-hydroxyvitamin d4410.0BGLAP, PTHLH, CALCA, PTH
17tartrate4410.0CALCA, BGLAP, PTHLH
18fluoride4410.0ADCY10, NAGLU, CALCA, BGLAP
19hydroxyproline44 11 2411.9PTH, HP, CALCA, BGLAP, PTHLH
201,25 dihydroxy vitamin d3449.9CALCA, PTH1R, BGLAP, PTHLH, PTH
21dopamine44 28 11 2412.9GHRH, NAGLU, TRH, APC, GNAS
22isoproterenol44 1110.9CALCA, GNAS, APC, PTH, ADCY10, PTHLH
23acth449.9APC, GNAS, HP, TRH, GHRH
24clonidine44 28 1111.8BGLAP, TRH, CALCA, GHRH, ADCY10
25atropine44 28 1111.8GHRH, CALCA, TRH, ADCY10
26ibmx44 28 5911.8PTHLH, PTH1R, PTH, ADCY10, TRH, CALCA
27octreotide44 59 28 1112.8GNAS, PTHLH, ADCY10, GHRH, TRH, CALCA
28dbc-amp449.8PTHLH, PTH1R, NAGLU, TRH, GHRH, ADCY10
29sodium fluoride449.8CALCA, BGLAP, ADCY10
30estradiol44 11 2411.8PTHLH, TRH, CHKA, GHRH
31guanine44 11 2411.8GNAL, CALCA, GBP1, GNAS, APC, ADCY10
32calcitriol44 59 11 2412.7PTH1R, PTH, PTHLH, CALCA, BGLAP
33lithium44 49 11 2412.6HP, APC, NAGLU, TRH
34urea44 11 2411.6GHRH, HP, CHKA, TRH, NAGLU
35norepinephrine44 11 2411.6ADCY10, CALCA, PTHLH, GNAS, TRH, GHRH
36phosphorus449.6NAGLU, BGLAP, PTH, PTHLH, PTH1R, CALCA
37creatinine449.6BGLAP, CHKA, HP, NAGLU, PTHLH, PTH
38thymidine44 2410.5PTH, PTHLH, GNAS, PTH1R, TRH, NAGLU
39nitric oxide44 11 2411.4PTH, PTHLH, PTH1R, NAGLU, CALCA, GNAS
40steroid449.3PTHLH, PTH1R, NAGLU, HP, CHKA, GHRH
41progesterone44 59 28 11 2413.2GHRH, APC, GNAS, CHKA, TRH, HP
42thyroxine44 2410.2GHRH, TRH, HP, PTH, BGLAP, CALCA
43glucose449.1CHKA, TRH, APC, GNAS, PTH, PTHLH
44dexamethasone44 49 28 1112.0PTH1R, BGLAP, GHRH, CHKA, TRH, HP
45cyclic amp44 2410.0PTH, ADCY10, PTH1R, GHRH, APC, GNAS
46testosterone44 59 11 2412.0TRH, BGLAP, CALCA, APC, GHRH, CHKA
47vitamin d448.9CALCA, CHKA, GHRH, NAGLU, PTH1R, PTHLH
48arginine448.9PTH, PTHLH, TRH, GHRH, GNAS, BGLAP
49adenylate448.8CALCA, ADCY10, PTH, PTHLH, PTH1R, HP
50calcium44 49 11 2411.4GHRH, PTH1R, NAGLU, TRH, CHKA, APC

GO Terms for genes affiliated with Pseudohypoparathyroidism

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16Gene Ontology
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Cellular components related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extrinsic to internal side of plasma membraneGO:0312349.7GNAL, GNA15, GNAS, GNA11
2heterotrimeric G-protein complexGO:0058349.6GNA11, GNAS, GNA15, GNAL
3extracellular spaceGO:0056159.3CALCA, GHRH, HP, PTHLH, PTH, BGLAP
4extracellular regionGO:0055768.4BGLAP, CALCA, GNAS, GHRH, TRH, HP

Biological processes related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cAMP metabolic processGO:04605810.3PTH, PTHLH
2osteoblast developmentGO:00207610.2PTHLH, PTH1R, BGLAP
3activation of adenylate cyclase activityGO:00719010.1GNAL, GNAS, CALCA
4phospholipase C-activating dopamine receptor signaling pathwayGO:06015810.1GNA11, GNA15
5adenylate cyclase-activating dopamine receptor signaling pathwayGO:00719110.1GNAL, GNAS
6regulation of osteoclast differentiationGO:04567010.1BGLAP, APC
7adenylate cyclase-modulating G-protein coupled receptor signaling pathwayGO:00718810.0GNA11, GNA15, PTH1R
8positive regulation of cAMP biosynthetic processGO:0308199.9CALCA, GNAS, GHRH, PTHLH, PTH
9cAMP biosynthetic processGO:0061719.9ADCY10, GNAS
10elevation of cytosolic calcium ion concentrationGO:0072049.9PTH1R, GNA15, CALCA
11skeletal system developmentGO:0015019.8BGLAP, GNA11, PTH1R, PTHLH, PTH
12cell-cell signalingGO:0072679.7CALCA, GHRH, TRH, PTHLH, PTH
13adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.7PTH, PTHLH, PTH1R, GHRH, GNAL, CALCA

Molecular functions related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:05142810.1PTHLH, PTH
2hormone activityGO:00517910.0PTH, PTHLH, CALCA
3G-protein coupled receptor bindingGO:0016649.9GNA11, GNA15, GNAL
4adenylate cyclase activityGO:0040169.9ADCY10, GNAS
5G-protein beta/gamma-subunit complex bindingGO:0316839.9GNAL, GNA15, GNAS, GNA11
6GTPase activityGO:0039249.6GNA11, GNAS, GNA15, GNAL, GBP1
7signal transducer activityGO:0048719.5CHKA, GNAL, GNA15, GNAS, GNA11
8GTP bindingGO:0055259.5GBP1, GNAL, GNA15, GNAS, GNA11

Products for genes affiliated with Pseudohypoparathyroidism

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Sources for Pseudohypoparathyroidism

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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
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50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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