MCID: PSD015
MIFTS: 54

Pseudohypoparathyroidism malady

Genetic diseases, Rare diseases, Endocrine diseases, Nephrological diseases, Fetal diseases, Eye diseases, Bone diseases, Skin diseases categories
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Summaries for Pseudohypoparathyroidism

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43NIH Rare Diseases, 65Wikipedia, 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 pseudohypoparathyroidism type 1b. An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS complex locus), and among its related pathways are Endocrine and other factor-regulated calcium reabsorption and Osteoblast Signaling. The compounds octreotide and calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and spinal cord, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:65 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

Description from OMIM:47 603233,612462

Aliases & Classifications for Pseudohypoparathyroidism

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 58SNOMED-CT, 35MeSH, 25ICD10
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Related Diseases for Pseudohypoparathyroidism

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

pseudohypoparathyroidism Pseudohypoparathyroidism Type 1c
Pseudohypoparathyroidism Type 2

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.9PTHLH, PTH, PTH1R
2pseudohypoparathyroidism type 1b30.7STX16, PTHLH, PTH1R, PTH, GNAS-AS1, GNAS
3hypothyroidism30.6PTH, GNAS
4hyperparathyroidism30.6PTHLH, PTH
5brachydactyly30.4GNAS, PTH
6osteitis fibrosa30.4PTH, GNAS
7mccune albright syndrome30.0GNAS
8primary hyperparathyroidism30.0PTH, PTH1R, PTHLH
9hyperthyroidism29.9PTH, GNAS
10hypercalcemia29.7PTH, PTH1R, PTHLH
11osteoporosis29.7PTHLH, PTH, PTH1R
12osteomalacia29.7PTH, PTH1R, PTHLH, GNAS
13albright's hereditary osteodystrophy10.6
14pseudopseudohypoparathyroidism10.6
15pseudohypoparathyroidism type 1c10.4
16pseudohypoparathyroidism type 210.4
17obesity10.4
18rickets10.3
19calcinosis10.2
20thyroiditis10.2
21growth hormone deficiency10.2
22cerebritis10.2
23acrodysostosis10.2
24paroxysmal dyskinesia10.2
25congenital hypothyroidism10.1
26hypertension10.1
27morbid obesity10.0
28hyperostosis10.0
29retinitis10.0
30slipped capital femoral epiphysis10.0
31wermer syndrome10.0PTH, GNAS
32hyperprolactinemia10.0GNAS, PTHLH
33goiter10.0GNAS, PTH
34leydig cell tumor10.0GNAS, PTHLH
35hypophosphatemia10.0PTHLH, PTH
36secondary hyperparathyroidism of renal origin10.0PTH, PTHLH
37osteoporosis, postmenopausal10.0PTH, PTHLH
38prolactinoma10.0PTHLH, GNAS
39hyperphosphatemia10.0GNAS, STX16, PTH
40ollier disease10.0PTHLH, PTH1R
41osteochondrodysplasia10.0PTHLH, PTH1R
42metaphyseal dysplasia10.0PTHLH, PTH1R
43parathyroid adenoma10.0PTHLH, PTH, GNAS
44thyroid cancer10.0PTH, GNAS
45chondrosarcoma10.0PTH1R, PTHLH
46skeletal dysplasias10.0GNAS, PTHLH, PTH1R
47dwarfism9.9PTH1R, PTHLH, PTH
48secondary syphilis9.9PTH, PTH1R, PTHLH
49primary hyperoxaluria9.9PTH, PTH1R, PTHLH
50osteosarcoma9.9PTHLH, PTH1R, PTH

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Symptoms for Pseudohypoparathyroidism

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47OMIM
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Clinical features from OMIM:

603233,612462

Drugs & Therapeutics for Pseudohypoparathyroidism

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pseudohypoparathyroidism

Search NIH Clinical Center for Pseudohypoparathyroidism

Genetic Tests for Pseudohypoparathyroidism

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Anatomical Context for Pseudohypoparathyroidism

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33MalaCards
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MalaCards organs/tissues related to Pseudohypoparathyroidism:

33
Bone, Testes, Spinal cord, Thyroid, Skin, Kidney, Pituitary, Cortex, Heart, Brain, Adipocyte

Animal Models for Pseudohypoparathyroidism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2GNAS, PTH, PTH1R, PTHLH
2MP:00053828.2PTHLH, PTH1R, PTH, GNAS
3MP:00053907.8GNAS, PTH, PTH1R, PTHLH
4MP:00053787.6GNAS, GNAS-AS1, PTH, PTH1R, PTHLH
5MP:00107687.6PTHLH, PTH1R, PTH, GNAS-AS1, GNAS
6MP:00053767.5GNAS, GNAS-AS1, PTH, PTH1R, PTHLH

Publications for Pseudohypoparathyroidism

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52PubMed
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Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Congestive heart failure: an unusual presentation of pseudohypoparathyroidism. (23823262)
2013
2
Clinical utility gene card for: pseudohypoparathyroidism. (22968134)
2013
3
An update on the clinical and molecular characteristics of pseudohypoparathyroidism. (23076042)
2012
4
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
5
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. (22140064)
2012
6
Spinal-cord compression related to pseudohypoparathyroidism. (20851612)
2011
7
Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone. (22029008)
2011
8
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. (20719837)
2010
9
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (19530187)
2009
10
Pseudohypoparathyroidism: history of the disease. (16789627)
2006
11
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. (15633718)
2004
12
Suspected pseudohypoparathyroidism in a domestic ferret. (12710772)
2003
13
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. (12970262)
2003
14
PTH/PTHrP receptor and pseudohypoparathyroidism]. (11857923)
2002
15
Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. (12041724)
2002
16
Pseudohypoparathyroidism: from bedside to bench and back. (10457257)
1999
17
Spinal cord compression by heterotopic ossification associated with pseudohypoparathyroidism. (9427170)
1997
18
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. (8702665)
1996
19
Real-time monitoring of reduced beta-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism. (8660590)
1996
20
Therapy-resistant seizures in pseudohypoparathyroidism. A case report. (8521197)
1995
21
Transient pseudohypoparathyroidism of the neonate. (7655638)
1995
22
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. (7745008)
1995
23
Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (8045737)
1994
24
Two cases of pseudohypoparathyroidism in adolescent boys. (9355673)
1994
25
The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism. (8268047)
1993
26
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. (1356667)
1992
27
Pseudohypoparathyroidism: case report. (1881816)
1991
28
Heterogeneity of pseudohypoparathyroidism type I from the aspect of urinary excretion of calcium and serum levels of parathyroid hormone. (2108792)
1990
29
Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic clue for pseudohypoparathyroidism. (2171682)
1990
30
Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. (3753557)
1986
31
Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. (3089087)
1986
32
Multiple pre- and postreceptor defects in pseudohypoparathyroidism (a multicenter study with twenty four patients). (3001127)
1986
33
Coexistent pseudohypoparathyroidism and D brachydactyly in a family. (3815876)
1986
34
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. (4025387)
1985
35
Metabolic bone disease in pseudohypoparathyroidism: radiologic features. (3983385)
1985
36
Examination of circulating parathyroid hormone in pseudohypoparathyroidism. (4008609)
1985
37
Abnormalities in erythrocyte membrane protein in pseudohypoparathyroidism type 1. (6204003)
1984
38
Pseudohypoparathyroidism: a case report. (6671445)
1983
39
Absence of overlapping resistance to vasopressin and parathyroid hormone in patients with nephrogenic diabetes insipidus and pseudohypoparathyroidism. (7107814)
1982
40
Improvement in abnormal secretion of thyrotropin and gonadotropin after restoration of serum calcium is pseudohypoparathyroidism. (6286295)
1982
41
Secondary hyperparathyroidism with 1,25-dihydroxyvitamin D deficiency and pseudohypoparathyroidism in childhood: relationship between plasma 1,25-dihydroxyvitamin D and parathyroid hormone levels and urinary cyclic AMP response to exogenous PTH. (6262082)
1981
42
Fibroblast defect in pseudohypoparathyroidism, type I: reduced activity of receptor-cyclase coupling protein. (6267099)
1981
43
Effect of dibutyryl adenosine 3',5'-monophosphate administration on plasma concentrations of 1,25-dihydroxyvitamin D in pseudohypoparathyroidism type I. (6270183)
1981
44
Dissociation of parathyroid hormone bioactivity and immunoreactivity in pseudohypoparathyroidism type I. (7298795)
1981
45
Pseudohypoparathyroidism: an inherited disorder of adenylate cyclase. (6269394)
1981
46
Pseudohypoparathyroidism associated with hypercalcitoninaemia. (7355665)
1980
47
Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. (6249307)
1980
48
Effect of acetazolamide on calcium and phosphate metabolism in type I pseudohypoparathyroidism: interaction with parathyroid hormone. (219008)
1979
49
Altered activity of the nucleotide regulatory site in the parathyroid hormone-sensitive adenylate cyclase from the renal cortex of a patient with pseudohypoparathyroidism. (219026)
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

Variations for Pseudohypoparathyroidism

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Expression for genes affiliated with Pseudohypoparathyroidism

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2BioGPS, 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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 53QIAGEN, 51PharmGKB
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Pathways related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2PTH1R, GNAS
29.1PTH1R, PTH
39.1PTH, PTH1R
48.5PTH1R, PTH, PTHLH
58.1PTHLH, PTH1R, PTH, GNAS
6
Show member pathways
8.1PTH1R, GNAS, PTHLH, PTH
7
Show member pathways
8.1GNAS, PTH, PTH1R, PTHLH
8
Show member pathways
8.1GNAS, PTH, PTH1R, PTHLH
98.1GNAS, PTH, PTH1R, PTHLH

Compounds for genes affiliated with Pseudohypoparathyroidism

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1octreotide45 61 29 1112.7PTHLH, GNAS
2calcium carbonate459.7PTH, PTHLH
3pamidronate45 51 1111.7PTHLH, PTH
4alendronate45 51 1111.7PTHLH, PTH
525-hydroxyvitamin d459.7PTHLH, PTH
6leupeptin459.7PTH, PTHLH
7hydroxyproline45 24 1111.7PTHLH, PTH
8bicarbonate459.6PTHLH, PTH
9ag 1478459.6PTH, PTHLH
10guanosine 5-o-(3-thiotriphosphate)459.6PTH1R, GNAS
11aprotinin45 1110.6PTHLH, PTH
12bromodeoxyuridine459.4PTHLH, PTH
13ccl445 2910.3PTHLH, PTH1R
14thyroxine45 2410.3PTH, PTHLH
15dbc-amp459.3PTH1R, PTHLH
16isoproterenol45 1110.3GNAS, PTH, PTHLH
17arginine459.1PTH, PTHLH, GNAS
18inositol 1,4,5 trisphosphate459.0PTH, PTH1R
19phosphorus458.9PTHLH, PTH1R, PTH
20glucose458.9PTH, GNAS, PTHLH
211,25 dihydroxy vitamin d3458.9PTHLH, PTH1R, PTH
22ibmx45 61 2910.9PTHLH, PTH1R, PTH
23calcitriol45 61 24 1111.9PTH, PTH1R, PTHLH
24vitamin d458.9PTH1R, PTHLH, PTH
25steroid458.9GNAS, PTH1R, PTHLH
26threonine458.8PTHLH, PTH1R, GNAS
27alanine458.7PTHLH, GNAS, PTH1R
28dexamethasone45 51 29 1111.7PTHLH, PTH1R, PTH
29ribonucleic acid458.5PTH1R, GNAS, PTH, PTHLH
30forskolin45 51 1110.5GNAS, PTHLH, PTH1R, PTH
31pge2458.5PTH1R, PTHLH, PTH, GNAS
32thymidine45 249.5GNAS, PTH, PTHLH, PTH1R
33adenylate458.5PTHLH, GNAS, PTH, PTH1R
34cyclic amp45 249.5PTHLH, PTH, PTH1R, GNAS
35nitric oxide45 24 1110.5GNAS, PTH, PTH1R, PTHLH
36calcium45 51 24 1111.2PTH1R, GNAS, PTH, PTHLH
37estrogen458.2PTHLH, PTH, PTH1R

GO Terms for genes affiliated with Pseudohypoparathyroidism

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16Gene Ontology
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Biological processes related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:0711079.7GNAS, PTH
2cAMP metabolic processGO:0460589.5PTHLH, PTH
3female pregnancyGO:0075659.4PTHLH, GNAS
4endochondral ossificationGO:0019589.3PTHLH, GNAS
5bone resorptionGO:0454539.1PTH, PTH1R
6positive regulation of cAMP biosynthetic processGO:0308199.1PTHLH, GNAS, PTH
7osteoblast developmentGO:0020769.1PTH1R, PTHLH
8regulation of gene expressionGO:0104689.0PTH, PTHLH
9skeletal system developmentGO:0015018.6PTHLH, PTH, PTH1R
10adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071898.3GNAS, PTH, PTH1R, PTHLH

Molecular functions related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.3PTHLH, PTH
2peptide hormone receptor bindingGO:0514289.0PTHLH, PTH

Products for genes affiliated with Pseudohypoparathyroidism

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Sources for Pseudohypoparathyroidism

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet