MCID: PSD015
MIFTS: 47

Pseudohypoparathyroidism malady

Genetic diseases, Rare diseases, Endocrine diseases, Nephrological diseases, Fetal diseases, Eye diseases, Bone diseases, Skin diseases categories

Aliases & Classifications for Pseudohypoparathyroidism

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Pseudohypoparathyroidism, Aliases & Descriptions:

Name: Pseudohypoparathyroidism 9 41 11 43 60
 
Pseudohypoparathyroidism, Type Ia 60


Classifications:



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Disease Ontology9 DOID:4184
MeSH33 D011547
ICD1025 E20.1

Summaries for Pseudohypoparathyroidism

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NIH Rare Diseases:41 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 based summary: Pseudohypoparathyroidism, also known as pseudohypoparathyroidism, type ia, is related to brachydactyly and hypoparathyroidism. 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, thyroid and testes, and related mouse phenotypes are limbs/digits/tail and craniofacial.

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

Related Diseases for Pseudohypoparathyroidism

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Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism Ia
Pseudohypoparathyroidism Ic Pseudohypoparathyroidism Type 2

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

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly30.7GNAS, PTH
2hypoparathyroidism30.7PTH, PTH1R, PTHLH
3hypothyroidism30.7GNAS, PTH
4hyperparathyroidism30.6PTH, PTHLH
5osteitis fibrosa30.6GNAS, PTH
6hyperthyroidism30.0PTH, GNAS
7osteoporosis30.0PTH, PTHLH
8pseudohypoparathyroidism, type ib29.9GNAS, GNAS-AS1, PTH, PTH1R, PTHLH, STX16
9primary hyperparathyroidism29.7PTHLH, PTH1R, PTH
10hypercalcemia29.5PTHLH, PTH1R, PTH
11osteomalacia29.3GNAS, PTH, PTH1R, PTHLH
12albright's hereditary osteodystrophy10.6
13pseudopseudohypoparathyroidism10.6
14pseudohypoparathyroidism ic10.5
15obesity10.4
16pseudohypoparathyroidism ia10.4
17mccune-albright syndrome, somatic, mosaic10.4GNAS
18pseudohypoparathyroidism type 210.4
19thyroiditis10.4
20rickets10.3
21acrodysostosis10.3
22growth hormone deficiency10.3
23calcinosis10.3
24congenital hypothyroidism10.2
25cerebritis10.2
26multiple endocrine neoplasia 110.2PTH, GNAS
27basal ganglia calcification10.2
28hyperprolactinemia10.1GNAS, PTHLH
29goiter10.1PTH, GNAS
30parathyroid gland disease10.1PTHLH, PTH
31leydig cell tumor10.1PTHLH, GNAS
32hypophosphatemia10.1PTH, PTHLH
33secondary hyperparathyroidism of renal origin10.1PTHLH, PTH
34morbid obesity10.1
35hyperostosis10.1
36retinitis10.1
37slipped capital femoral epiphysis10.1
38prolactinoma10.1PTHLH, GNAS
39hyperphosphatemia10.0GNAS, PTH, STX16
40ollier disease10.0PTHLH, PTH1R
41metaphyseal dysplasia10.0PTHLH, PTH1R
42parathyroid adenoma10.0GNAS, PTH, PTHLH
43thyroid cancer9.9PTH, GNAS
44fucosidosis9.9
45basal cell nevus syndrome9.9
46systemic lupus erythematosus9.9
47glucocorticoid resistance9.9
48cataract9.9
49congestive heart failure9.9
50craniosynostosis9.9

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Symptoms for Pseudohypoparathyroidism

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Drugs & Therapeutics for Pseudohypoparathyroidism

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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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MalaCards organs/tissues related to Pseudohypoparathyroidism:

31
Bone, Thyroid, Testes, Spinal cord, Kidney, Skin, Cortex, Pituitary, Brain, Heart, Adipocyte

Animal Models for Pseudohypoparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2PTHLH, PTH1R, PTH, GNAS
2MP:00053828.2GNAS, PTH, PTH1R, PTHLH
3MP:00053907.8GNAS, PTH, PTH1R, PTHLH
4MP:00053787.6PTHLH, PTH1R, PTH, GNAS-AS1, GNAS
5MP:00107687.6PTHLH, PTH1R, PTH, GNAS-AS1, GNAS
6MP:00053767.5GNAS, GNAS-AS1, PTH, PTH1R, PTHLH

Publications for Pseudohypoparathyroidism

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Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification. (24945424)
2014
2
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia. (25045367)
2014
3
Congestive heart failure: an unusual presentation of pseudohypoparathyroidism. (23823262)
2013
4
Clinical utility gene card for: pseudohypoparathyroidism. (22968134)
2013
5
An update on the clinical and molecular characteristics of pseudohypoparathyroidism. (23076042)
2012
6
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
7
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. (22140064)
2012
8
Spinal-cord compression related to pseudohypoparathyroidism. (20851612)
2011
9
Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone. (22029008)
2011
10
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. (20719837)
2010
11
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (19530187)
2009
12
Pseudohypoparathyroidism: history of the disease. (16789627)
2006
13
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. (15633718)
2004
14
Suspected pseudohypoparathyroidism in a domestic ferret. (12710772)
2003
15
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. (12970262)
2003
16
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. (12729407)
2003
17
PTH/PTHrP receptor and pseudohypoparathyroidism]. (11857923)
2002
18
Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. (12041724)
2002
19
Pseudohypoparathyroidism: from bedside to bench and back. (10457257)
1999
20
Spinal cord compression by heterotopic ossification associated with pseudohypoparathyroidism. (9427170)
1997
21
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. (8702665)
1996
22
Real-time monitoring of reduced beta-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism. (8660590)
1996
23
Therapy-resistant seizures in pseudohypoparathyroidism. A case report. (8521197)
1995
24
Transient pseudohypoparathyroidism of the neonate. (7655638)
1995
25
Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (8045737)
1994
26
Two cases of pseudohypoparathyroidism in adolescent boys. (9355673)
1994
27
The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism. (8268047)
1993
28
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. (1356667)
1992
29
Pseudohypoparathyroidism: case report. (1881816)
1991
30
Heterogeneity of pseudohypoparathyroidism type I from the aspect of urinary excretion of calcium and serum levels of parathyroid hormone. (2108792)
1990
31
Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic clue for pseudohypoparathyroidism. (2171682)
1990
32
Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. (3753557)
1986
33
Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. (3089087)
1986
34
Multiple pre- and postreceptor defects in pseudohypoparathyroidism (a multicenter study with twenty four patients). (3001127)
1986
35
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. (4025387)
1985
36
Metabolic bone disease in pseudohypoparathyroidism: radiologic features. (3983385)
1985
37
Examination of circulating parathyroid hormone in pseudohypoparathyroidism. (4008609)
1985
38
Abnormalities in erythrocyte membrane protein in pseudohypoparathyroidism type 1. (6204003)
1984
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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Clinvar genetic disease variations for Pseudohypoparathyroidism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_001077488.2(GNAS): c.347C> T (p.Pro116Leu)single nucleotide variantPathogenicrs137854539GRCh37Chr 20, 57478758: 57478758

Expression for genes affiliated with Pseudohypoparathyroidism

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Search GEO for disease gene expression data for Pseudohypoparathyroidism.

Pathways for genes affiliated with Pseudohypoparathyroidism

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Pathways related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2GNAS, PTH1R
29.1PTH1R, PTH
39.1PTH1R, PTH
48.5PTH, PTH1R, PTHLH
5
Show member pathways
8.1PTHLH, PTH1R, PTH, GNAS
6
Show member pathways
8.1PTHLH, PTH1R, PTH, GNAS
78.1PTHLH, PTH1R, PTH, GNAS
8
Show member pathways
8.1PTHLH, PTH1R, PTH, GNAS
98.1GNAS, PTH, PTH1R, PTHLH

Compounds for genes affiliated with Pseudohypoparathyroidism

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Compounds related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 37)
idCompoundScoreTop Affiliating Genes
1octreotide43 59 28 1212.7GNAS, PTHLH
2calcium carbonate439.7PTHLH, PTH
3pamidronate43 49 1211.7PTH, PTHLH
4alendronate43 49 1211.7PTHLH, PTH
525-hydroxyvitamin d439.7PTHLH, PTH
6leupeptin439.7PTH, PTHLH
7hydroxyproline43 24 1211.7PTHLH, PTH
8bicarbonate439.6PTHLH, PTH
9ag 1478439.6PTHLH, PTH
10guanosine 5-o-(3-thiotriphosphate)439.6GNAS, PTH1R
11aprotinin43 1210.6PTHLH, PTH
12bromodeoxyuridine439.4PTHLH, PTH
13ccl443 2810.3PTHLH, PTH1R
14thyroxine43 2410.3PTHLH, PTH
15dbc-amp439.3PTH1R, PTHLH
16isoproterenol43 1210.3PTHLH, PTH, GNAS
17arginine439.1PTHLH, PTH, GNAS
18inositol 1,4,5 trisphosphate439.0PTH, PTH1R
19phosphorus438.9PTH, PTH1R, PTHLH
20glucose438.9PTHLH, PTH, GNAS
211,25 dihydroxy vitamin d3438.9PTHLH, PTH1R, PTH
22ibmx43 59 2810.9PTH, PTH1R, PTHLH
23calcitriol43 59 24 1211.9PTHLH, PTH1R, PTH
24vitamin d438.9PTHLH, PTH1R, PTH
25steroid438.9PTHLH, PTH1R, GNAS
26threonine438.8GNAS, PTH1R, PTHLH
27alanine438.7GNAS, PTH1R, PTHLH
28dexamethasone43 49 28 1211.7PTH, PTH1R, PTHLH
29ribonucleic acid438.5PTHLH, PTH1R, PTH, GNAS
30forskolin43 49 1210.5PTHLH, PTH1R, PTH, GNAS
31pge2438.5GNAS, PTH, PTH1R, PTHLH
32thymidine43 249.5PTHLH, PTH1R, PTH, GNAS
33adenylate438.5GNAS, PTH, PTH1R, PTHLH
34cyclic amp43 249.5GNAS, PTH, PTH1R, PTHLH
35nitric oxide43 24 1210.5GNAS, PTH, PTH1R, PTHLH
36calcium43 49 24 1211.2PTHLH, PTH1R, PTH, GNAS
37estrogen438.2PTHLH, PTH1R, PTH

GO Terms for genes affiliated with Pseudohypoparathyroidism

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Biological processes related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:00711079.7PTH, GNAS
2cAMP metabolic processGO:00460589.5PTHLH, PTH
3female pregnancyGO:00075659.4PTHLH, GNAS
4endochondral ossificationGO:00019589.3GNAS, PTHLH
5bone resorptionGO:00454539.1PTH1R, PTH
6positive regulation of cAMP biosynthetic processGO:00308199.1GNAS, PTH, PTHLH
7osteoblast developmentGO:00020769.1PTHLH, PTH1R
8regulation of gene expressionGO:00104689.0PTHLH, PTH
9skeletal system developmentGO:00015018.6PTH, PTH1R, PTHLH
10adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071898.3PTHLH, PTH1R, PTH, GNAS

Molecular functions related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.3PTHLH, PTH
2peptide hormone receptor bindingGO:00514289.0PTHLH, PTH

Products for genes affiliated with Pseudohypoparathyroidism

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Sources for Pseudohypoparathyroidism

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
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39NDF-RT
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46OMIM via Orphanet
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