MCID: PSD015
MIFTS: 54

Pseudohypoparathyroidism malady

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

Summaries for Pseudohypoparathyroidism

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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 based summary: Pseudohypoparathyroidism is related to mccune albright syndrome and brachydactyly. 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:64 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

Descriptions from OMIM:46 603233,612462

Aliases & Classifications for Pseudohypoparathyroidism

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Related Diseases for Pseudohypoparathyroidism

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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
1mccune albright syndrome30.7GNAS
2brachydactyly30.7GNAS, PTH
3hypoparathyroidism30.7PTHLH, PTH, PTH1R
4hypothyroidism30.6PTH, GNAS
5hyperparathyroidism30.6PTHLH, PTH
6osteitis fibrosa30.6PTH, GNAS
7hyperthyroidism30.0PTH, GNAS
8pseudohypoparathyroidism type 1b29.8STX16, PTHLH, PTH1R, PTH, GNAS-AS1, GNAS
9primary hyperparathyroidism29.7PTH, PTH1R, PTHLH
10hypercalcemia29.5PTH, PTH1R, PTHLH
11osteoporosis29.5PTHLH, PTH, PTH1R
12osteomalacia29.3PTH, PTH1R, PTHLH, GNAS
13albright's hereditary osteodystrophy10.6
14pseudopseudohypoparathyroidism10.6
15obesity10.4
16pseudohypoparathyroidism type 1c10.4
17pseudohypoparathyroidism type 210.4
18thyroiditis10.4
19rickets10.3
20acrodysostosis10.3
21calcinosis10.3
22growth hormone deficiency10.3
23cerebritis10.2
24wermer syndrome10.2PTH, GNAS
25hypertension10.1
26congenital hypothyroidism10.1
27hyperprolactinemia10.1GNAS, PTHLH
28goiter10.1GNAS, PTH
29leydig cell tumor10.1GNAS, PTHLH
30hypophosphatemia10.1PTHLH, PTH
31secondary hyperparathyroidism of renal origin10.1PTH, PTHLH
32osteoporosis, postmenopausal10.1PTH, PTHLH
33prolactinoma10.1PTHLH, GNAS
34morbid obesity10.1
35hyperostosis10.1
36retinitis10.1
37slipped capital femoral epiphysis10.1
38hyperphosphatemia10.0GNAS, STX16, PTH
39ollier disease10.0PTHLH, PTH1R
40metaphyseal dysplasia10.0PTHLH, PTH1R
41parathyroid adenoma10.0PTHLH, PTH, GNAS
42thyroid hurthle cell carcinoma9.9PTH, GNAS
43cataract9.9
44congestive heart failure9.9
45craniosynostosis9.9
46diabetes mellitus9.9
47fucosidosis9.9
48osteopetrosis9.9
49renal tubular acidosis9.9
50retinitis pigmentosa9.9

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Symptoms for Pseudohypoparathyroidism

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Clinical features from OMIM:

603233,612462

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:

32
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:

36
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 527)
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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Expression for genes affiliated with Pseudohypoparathyroidism

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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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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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Compounds related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1octreotide44 60 29 1212.7GNAS, PTHLH
2calcium carbonate449.7PTHLH, PTH
3pamidronate44 50 1211.7PTH, PTHLH
4alendronate44 50 1211.7PTHLH, PTH
525-hydroxyvitamin d449.7PTHLH, PTH
6leupeptin449.7PTH, PTHLH
7hydroxyproline44 25 1211.7PTHLH, PTH
8bicarbonate449.6PTHLH, PTH
9ag 1478449.6PTHLH, PTH
10guanosine 5-o-(3-thiotriphosphate)449.6GNAS, PTH1R
11aprotinin44 1210.6PTHLH, PTH
12bromodeoxyuridine449.4PTHLH, PTH
13ccl444 2910.3PTHLH, PTH1R
14thyroxine44 2510.3PTHLH, PTH
15dbc-amp449.3PTH1R, PTHLH
16isoproterenol44 1210.3PTHLH, PTH, GNAS
17arginine449.1PTHLH, PTH, GNAS
18inositol 1,4,5 trisphosphate449.0PTH, PTH1R
19phosphorus448.9PTH, PTH1R, PTHLH
20glucose448.9PTHLH, PTH, GNAS
211,25 dihydroxy vitamin d3448.9PTHLH, PTH1R, PTH
22ibmx44 60 2910.9PTH, PTH1R, PTHLH
23calcitriol44 60 25 1211.9PTHLH, PTH1R, PTH
24vitamin d448.9PTHLH, PTH1R, PTH
25steroid448.9PTHLH, PTH1R, GNAS
26threonine448.8GNAS, PTH1R, PTHLH
27alanine448.7GNAS, PTH1R, PTHLH
28dexamethasone44 50 29 1211.7PTH, PTH1R, PTHLH
29ribonucleic acid448.5PTHLH, PTH1R, PTH, GNAS
30forskolin44 50 1210.5PTHLH, PTH1R, PTH, GNAS
31pge2448.5GNAS, PTH, PTH1R, PTHLH
32thymidine44 259.5PTHLH, PTH1R, PTH, GNAS
33adenylate448.5GNAS, PTH, PTH1R, PTHLH
34cyclic amp44 259.5GNAS, PTH, PTH1R, PTHLH
35nitric oxide44 25 1210.5GNAS, PTH, PTH1R, PTHLH
36calcium44 50 25 1211.2PTHLH, PTH1R, PTH, GNAS
37estrogen448.2PTHLH, PTH1R, PTH

GO Terms for genes affiliated with Pseudohypoparathyroidism

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Biological processes related to Pseudohypoparathyroidism according to GeneCards/GeneDecks:

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

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
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23GTR
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26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
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43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
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62UMLS via Orphanet