MCID: PSD015
MIFTS: 49

Pseudohypoparathyroidism malady

Endocrine category

Summaries for Pseudohypoparathyroidism

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. Related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Wikipedia:64 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

Description from OMIM:47 612462,603233

Aliases & Classifications for Pseudohypoparathyroidism

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

pseudohypoparathyroidism 8 43 10 45 61


External Ids:

Disease Ontology8 DOID:4184
MeSH35 D011547
ICD1025 E20.1

Related Diseases for Pseudohypoparathyroidism

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the pseudohypoparathyroidism type 1b family:

pseudohypoparathyroidism pseudohypoparathyroidism type 2
pseudohypoparathyroidism type 1c

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

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.9PTH, PTHLH, BGLAP, CALCA, NAGLU, PTH1R
2pseudopseudohypoparathyroidism30.8GNAS
3pseudohypoparathyroidism type 1b30.6BGLAP, GNAS, GNAS-AS1, STX16, PTH1R, PTHLH
4rickets30.4BGLAP, PTH
5growth hormone deficiency30.3GHRH, BGLAP
6acrodysostosis30.2GNAS
7brachydactyly30.2GNAS, PTH, ADCY10
8osteitis fibrosa30.2BGLAP, GNAS, PTH
9congenital hypothyroidism30.1GNAS
10mccune albright syndrome30.0APC, GNAS
11renal osteodystrophy30.0BGLAP, CALCA, PTH
12primary hyperparathyroidism30.0PTH, PTHLH, PTH1R, CALCA, BGLAP
13insulin resistance29.8GNAS
14amenorrhea29.8TRH
15diabetes insipidus29.8TRH, GHRH
16graves' disease29.8BGLAP, GNAS, ADCY10
17short stature29.8BGLAP, GNAS, GHRH
18progressive osseous heteroplasia29.8GNAS, BGLAP
19osteoporosis29.8BGLAP, CALCA, PTH1R, PTHLH, PTH
20osteomalacia29.8BGLAP, CALCA, GNAS, PTH1R, PTHLH, PTH
21hypercalcemia29.8BGLAP, CALCA, PTH1R, PTHLH, PTH, ADCY10
22albright's hereditary osteodystrophy10.5
23pseudohypoparathyroidism type 210.4
24pseudohypoparathyroidism type 1c10.4
25paroxysmal dyskinesia10.2
26morbid obesity10.0
27protein c deficiency10.0
28mccune–albright syndrome10.0
29protein r deficiency10.0
30slipped capital femoral epiphysis10.0
31hyperparathyroidism, neonatal10.0
32nephrolithiasis10.0PTH
33osteonecrosis10.0BGLAP
34osteosclerosis10.0PTH
35sarcoma10.0ADCY10
36paraneoplastic syndromes10.0PTHLH
37craniopharyngioma10.0TRH
38polycystic ovary syndrome10.0GHRH
39calcinosis10.0PTH
40glucagonoma10.0GHRH
41thyrotoxicosis10.0TRH
42anorexia nervosa10.0GHRH
43thyroid adenoma10.0APC, GNAS
44nontoxic goiter10.0BGLAP
45metaphyseal dysplasia10.0PTHLH, PTH1R
46paget's disease of bone10.0CALCA
47multiple endocrine neoplasia10.0GNAS, CALCA
48pancreatic islet cell tumors10.0PTHLH, CALCA
49hypertension10.0PTH, CALCA
50ollier disease10.0PTHLH, PTH1R

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Clinical Features for Pseudohypoparathyroidism

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612462,603233

Drugs & Therapeutics for Pseudohypoparathyroidism

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

Approved drugs:

Search CenterWatch for Pseudohypoparathyroidism

Drug clinical trials:

Search ClinicalTrials for Pseudohypoparathyroidism

Search NIH Clinical Center for Pseudohypoparathyroidism

Search CenterWatch for Pseudohypoparathyroidism

Genetic Tests for Pseudohypoparathyroidism

Anatomical Context for Pseudohypoparathyroidism

Animal Models for Pseudohypoparathyroidism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Pseudohypoparathyroidism

Sources:
51PubMed
See all sources

Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 512)
idTitleAuthorsYear
1
An update on the clinical and molecular characteristics of pseudohypoparathyroidism. (23076042)
2012
2
Pseudohypoparathyroidism type 1b with hypothyroidism. (22962241)
2012
3
Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone. (22029008)
2011
4
Identification of a novel mutation in a pseudohypoparathyroidism family. (21822432)
2011
5
Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b. (21836370)
2011
6
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism. (21274319)
2010
7
Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons. (20979189)
2010
8
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. (20061437)
2010
9
A study of computed tomography scan and magnetic resonance imaging findings in pseudohypoparathyroidism. (21085533)
2010
10
Successful off-label use of cinacalcet HCl after standard therapy failure in a young man with pseudohypoparathyroidism Type 1b and vitamin D intoxication sequelae. (19000547)
2008
11
Visual vignette. Type 1A pseudohypoparathyroidism. (18996830)
2008
12
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. (18617581)
2008
13
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. (17392598)
2007
14
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. (17164301)
2007
15
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. (16116826)
2005
16
Pseudohypoparathyroidism with systemic lupus erythematosus. (12693459)
2003
17
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. (14561710)
2003
18
Plasma levels of parathyroid hormone (1-84) whole molecule and parathyroid hormone (7-84)-like fragments in pseudohypoparathyroidism type I. (12727982)
2003
19
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. (11406605)
2001
20
Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. (11600515)
2001
21
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. (11200992)
2001
22
Pseudohypoparathyroidism--another monogenic obesity syndrome. (10718839)
2000
23
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. (11067869)
2000
24
Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ib and II]. (10518973)
1999
25
Pseudohypoparathyroidism type Ia: late presentation with intact mental development. (9661086)
1998
26
Sigmoidal curve shift in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (9504951)
1998
27
Deletion of chromosome 22q11 and pseudohypoparathyroidism. (9295077)
1997
28
Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. (8770691)
1996
29
Heterogeneity of pseudohypoparathyroidism type I from the aspect of urinary excretion of calcium and serum levels of parathyroid hormone. (2108792)
1990
30
The resistance to parathyroid hormone of fibroblasts from some patients with type Ib pseudohypoparathyroidism is reversible with dexamethasone. (2168431)
1990
31
Studies on parathyroid hormone, vitamin D and pseudohypoparathyroidism: an example of trail from basic science to clinical practice. (2724638)
1989
32
Synthetic human parathyroid hormone-(1-34) for the study of pseudohypoparathyroidism. (2846629)
1988
33
Hypomagnesemia masking the appearance of elevated parathyroid hormone concentrations in familial pseudohypoparathyroidism. (3223496)
1988
34
Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification. (3404168)
1988
35
Effects of endogenous and exogenous parathyroid hormone on tubular reabsorption of calcium in pseudohypoparathyroidism. (2832440)
1988
36
Case study of a family of pseudohypoparathyroidism and pseudopseudohypoparathyroidism. (3793685)
1986
37
Metabolic bone disease in pseudohypoparathyroidism: radiologic features. (3983385)
1985
38
Pseudohypoparathyroidism: a case report. (6671445)
1983
39
Pseudohypoparathyroidism: continuing paradox. (6135920)
1983
40
Reduced bone growth in rats treated with anticonvulsant drugs: a type II pseudohypoparathyroidism? (6820680)
1982
41
Hypoparathyroidism and pseudohypoparathyroidism in childhood. (7094390)
1982
42
Pseudohypoparathyroidism with normal phosphaturic response to exogenous parathyroid hormone administration. (6270036)
1981
43
Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. (6265935)
1981
44
Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. (6249307)
1980
45
Pseudotumor cerebri in pseudohypoparathyroidism. (6255754)
1980
46
Studies on the attainment of normocalcemia in patients with pseudohypoparathyroidism. (6247909)
1980
47
Multiple abnormalities of anterior pituitary hormone secretion in association with pseudohypoparathyroidism. (6773975)
1980
48
Partial gonadotrophin-resistance in pseudohypoparathyroidism. (208340)
1978
49
Transient congenital pseudohypoparathyroidism type II. (216850)
1978
50
Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations. (14469327)
1962

Genetic Variations for Pseudohypoparathyroidism

Expression for genes affiliated with Pseudohypoparathyroidism

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

Sources:
38NCBI BioSystems Database, 54Reactome, 50PharmGKB, 52QIAGEN, 12EMD Millipore, 30KEGG
See all sources

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
Hide members
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
Hide members
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

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

Compounds related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1pge24510.8PTH1R
2estrogen4510.6TRH
3adenosine 3,5-cyclic monophosphorothioate4510.3CALCA, ADCY10, PTHLH
4forskolin45 50 1112.2PTH, PTH1R, GHRH, CALCA
5calcium carbonate4510.2BGLAP, PTHLH, CALCA, PTH
6teriparatide45 1111.2PTH1R, CALCA, BGLAP
7pamidronate45 50 1112.1PTH, BGLAP, PTHLH, CALCA
824,25-dihydroxyvitamin d34510.1BGLAP, CALCA, ADCY10
9clodronate45 50 1112.1PTHLH, CALCA
10alendronate45 50 1112.1CALCA, PTH, PTHLH, BGLAP
118-bromo-cgmp, sodium salt6010.1GNAS, GNA11, GNA15, GNAL
12pertussis toxin6010.1GNAL, GNA15, GNAS, GNA11
13suramin hexasodium salt6010.1GNA15, GNAS, GNAL, GNA11
14g-protein antagonist peptide6010.0GNA11, GNAL, GNAS, GNA15
15gallein6010.0GNA15, GNA11, GNAL, GNAS
1625-hydroxyvitamin d4510.0BGLAP, PTHLH, CALCA, PTH
17tartrate4510.0CALCA, BGLAP, PTHLH
18fluoride4510.0ADCY10, NAGLU, CALCA, BGLAP
19hydroxyproline45 11 2411.9PTH, HP, CALCA, BGLAP, PTHLH
201,25 dihydroxy vitamin d3459.9CALCA, PTH1R, BGLAP, PTHLH, PTH
21dopamine45 29 11 2412.9GHRH, NAGLU, TRH, APC, GNAS
22isoproterenol45 1110.9CALCA, GNAS, APC, PTH, ADCY10, PTHLH
23acth459.9APC, GNAS, HP, TRH, GHRH
24clonidine45 29 1111.8BGLAP, TRH, CALCA, GHRH, ADCY10
25atropine45 29 1111.8GHRH, CALCA, TRH, ADCY10
26ibmx45 29 6011.8PTHLH, PTH1R, PTH, ADCY10, TRH, CALCA
27octreotide45 60 29 1112.8GNAS, PTHLH, ADCY10, GHRH, TRH, CALCA
28dbc-amp459.8PTHLH, PTH1R, NAGLU, TRH, GHRH, ADCY10
29sodium fluoride459.8CALCA, BGLAP, ADCY10
30estradiol45 11 2411.8PTHLH, TRH, CHKA, GHRH
31guanine45 11 2411.8GNAL, CALCA, GBP1, GNAS, APC, ADCY10
32calcitriol45 60 11 2412.7PTH1R, PTH, PTHLH, CALCA, BGLAP
33lithium45 50 11 2412.6HP, APC, NAGLU, TRH
34urea45 11 2411.6GHRH, HP, CHKA, TRH, NAGLU
35norepinephrine45 11 2411.6ADCY10, CALCA, PTHLH, GNAS, TRH, GHRH
36phosphorus459.6NAGLU, BGLAP, PTH, PTHLH, PTH1R, CALCA
37creatinine459.6BGLAP, CHKA, HP, NAGLU, PTHLH, PTH
38thymidine45 2410.5PTH, PTHLH, GNAS, PTH1R, TRH, NAGLU
39nitric oxide45 11 2411.4PTH, PTHLH, PTH1R, NAGLU, CALCA, GNAS
40steroid459.3PTHLH, PTH1R, NAGLU, HP, CHKA, GHRH
41progesterone45 60 29 11 2413.2GHRH, APC, GNAS, CHKA, TRH, HP
42thyroxine45 2410.2GHRH, TRH, HP, PTH, BGLAP, CALCA
43glucose459.1CHKA, TRH, APC, GNAS, PTH, PTHLH
44dexamethasone45 50 29 1112.0PTH1R, BGLAP, GHRH, CHKA, TRH, HP
45cyclic amp45 2410.0PTH, ADCY10, PTH1R, GHRH, APC, GNAS
46testosterone45 60 11 2412.0TRH, BGLAP, CALCA, APC, GHRH, CHKA
47vitamin d458.9CALCA, CHKA, GHRH, NAGLU, PTH1R, PTHLH
48arginine458.9PTH, PTHLH, TRH, GHRH, GNAS, BGLAP
49adenylate458.8CALCA, ADCY10, PTH, PTHLH, PTH1R, HP
50calcium45 50 11 2411.4GHRH, PTH1R, NAGLU, TRH, CHKA, APC

GO Terms for genes affiliated with Pseudohypoparathyroidism

Sources:
16Gene Ontology
See all sources

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

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