MCID: PSD015
MIFTS: 49

Pseudohypoparathyroidism malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases, Bone diseases, Eye diseases, Nephrological diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Pseudohypoparathyroidism

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Aliases & Descriptions for Pseudohypoparathyroidism:

Name: Pseudohypoparathyroidism 10 45 47 12 36 65

Classifications:



External Ids:

Disease Ontology10 DOID:4184
ICD1027 E20.1
MeSH36 D011547
NCIt42 C99027
UMLS65 C0033806

Summaries for Pseudohypoparathyroidism

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NIH Rare Diseases:45 Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. parathyroid hormone helps control calcium, phosphorous, and vitamin d levels in the bones and blood. hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). the symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. this may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). these symptoms are usually first seen in childhood. there are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain 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: 1/5/2016

MalaCards based summary: Pseudohypoparathyroidism is related to pseudohypoparathyroidism ic and pseudopseudohypoparathyroidism. 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. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:68 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 Ia Pseudohypoparathyroidism Ic
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism Type 2

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

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism ic33.9APC, GNAS
2pseudopseudohypoparathyroidism33.5BGLAP, GNAS
3hypothyroidism30.4PTH, TRH
4dementia29.9BGLAP, PTH
5primary hyperparathyroidism29.5BGLAP, PTH, PTHLH
6osteopetrosis29.4BGLAP, PTH
7pseudohypoparathyroidism, type ib12.5
8pseudohypoparathyroidism ia12.3
9pseudohypoparathyroidism type 212.2
10albright's hereditary osteodystrophy12.0
11acrodysostosis10.5
12osteogenesis imperfecta levin type10.4BGLAP, GNAS
13hypoparathyroidism10.4
14peripheral osteosarcoma10.4GNAS, PTHLH
15chondroma10.4PTH1R, PTHLH
16fibrogenesis imperfecta ossium10.4BGLAP, PTH
17vkorc1-related altered drug metabolism10.4BGLAP, PTH
18parathyroid adenoma10.4BGLAP, PTH
19giant cell reparative granuloma10.3PTH, PTHLH
20diabetic angiopathy10.3BGLAP, PTH
21bone osteosarcoma10.3GNAS, PTHLH
22acrodermatitis chronica atrophicans10.3BGLAP, PTH
23acth-independent macronodular adrenal hyperplasia10.3GNAS, PTH, STX16
24blood coagulation disease10.3BGLAP, PTH
25congenital nervous system abnormality10.3GNAS, PTH, STX16
26anus basaloid carcinoma10.3PTH, PTHLH
27tonsillar fossa cancer10.3GNAS, PTH, STX16
28dominant beta-thalassemia10.3ADCY10, BGLAP
29antley-bixler syndrome10.3GNAS, PTH, STX16
30bone structure disease10.3BGLAP, PTH
31craniodiaphyseal dysplasia10.3BGLAP, GNAS
32skeleto cardiac syndrome with thrombocytopenia10.3PTH1R, PTHLH
33african tick-bite fever10.3PTH, PTHLH
34parathyroid transitional clear cell adenoma10.2PTH, PTHLH
35hydranencephaly10.2PTH1R, PTHLH
36chromosomal disease10.2BGLAP, PTH
37tuberous sclerosis-110.2ADCY10, PTH
38adrenal carcinoma10.2BGLAP, GNAS
39obesity10.2
40marcus gunn phenomenon10.2BGLAP, PTHLH
41bone development disease10.1BGLAP, PTH
42agraphia10.1GNAS, PTH1R, PTHLH
43bone inflammation disease10.1BGLAP, GNAS, PTH
44ehlers-danlos syndrome, type iii10.1APC, PTHLH
45hyperparathyroidism10.1
46thyroiditis10.1
47epidermolysis bullosa, pretibial10.1PTH, PTH1R, PTHLH
48rickets10.1
49brachydactyly10.0
50growth hormone deficiency10.0

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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Drugs for Pseudohypoparathyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 2, Phase 311748
2Hormone AntagonistsPhase 2, Phase 310002
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
4
TheophyllineapprovedPhase 25658-55-92153
Synonyms:
1,3 Dimethylxanthine
1,3-Dimethylxanthine
1,3-dimethyl-7H-purine-2,6-dione
1,3-dimethylxanthine
111079-49-3
1H-purine-2,6-dione
2a3a
46157-00-0
56645-32-0
58-55-9
75448-53-2
AB00052106
AC-20328
AC1L1D1F
AI3-50216
AKOS000120961
Accurbron
Acet-theocin
Aerobin
Aerolate
Aerolate III
Aerolate SR
Afonilm
Afonilum
Afonilum Retard
Aminophylline
Aquaphyllin
Armophylline
Asbron
Asmalix
Asmax
Austyn
BCBcMAP01_000071
BIDD:ER0557
BIDD:GT0151
BPBio1_000791
BPBio1_001041
BSPBio_000719
BSPBio_000945
BSPBio_002363
Bilordyl
Bronchodid Duracap
Bronchoparat
Bronchoretard
Bronkodyl
Bronkodyl SR
Bronkotabs
C07130
C7H8N4O2
CCRIS 4729
CHEBI:28177
CHEMBL190
CID2153
CPD-12479
CPD000058537
Cetraphylline
Choledyl SA
Chronophyllin
Constant T
Constant-T
ConstantT
D00371
D013806
DB00277
Diffumal
Dimethylxanthine
Diphyllin
DivK1c_000203
Doraphyllin
Duraphyl
Duraphyllin
Dyspne-Inhal
EINECS 200-385-7
Egifilin
Elixex
Elixicon
Elixomin
Elixophyllin
Elixophyllin (TN)
Elixophyllin SR
Elixophyllin(e)
Elixophylline
Etheophyl
Euphylline
Euphylong
GS 2591A
HMS1921E03
HMS2089A06
HMS2092M05
HMS500K05
HSDB 3399
Hylate
IDI1_000203
KBio1_000203
KBio2_001518
KBio2_004086
KBio2_006654
KBio3_001583
KBioGR_000785
KBioSS_001518
L000595
LASMA
LS-241
LaBID
Labid
Labophylline
Lanophyllin
Liquophylline
Liquorice
Lopac0_000014
MLS000069390
MLS002152943
MLS002153487
Maphylline
Medaphyllin
MolPort-001-002-058
MolPort-001-737-342
Mudrane
NCGC00018117-01
NCGC00018117-16
NCGC00022112-03
NCGC00022112-04
NCGC00022112-05
NCGC00022112-07
NCGC00022112-08
NCGC00022112-09
NCGC00022112-10
NCGC00022112-11
NCI60_001736
NINDS_000203
NSC 2066
NSC2066
Nuelin
Nuelin S.A
Nuelin S.A.
Nuelin SA
Optiphyllin
PDSP1_001018
PDSP1_001234
PDSP2_001002
PDSP2_001218
Parkophyllin
Physpan
Prestwick0_000820
Prestwick0_000873
Prestwick1_000820
Prestwick1_000873
Prestwick2_000820
Prestwick2_000873
Prestwick3_000820
Prestwick3_000873
Pro-vent
Pseudotheophylline
Pulmidur
Pulmo-Timelets
 
Quibron
Quibron T
Quibron T SR
Quibron T-SR
Quibron T/SR
Quibron TSR
Quibron-T
Quibron-T/SR
Quibron-T/Sr
Quibron-t (TN)
Respbid
Respicur
Respid
S1621_Selleck
SAM002554935
SMP1_000291
SMR000058537
SPBio_000823
SPBio_002640
SPBio_002866
SPECTRUM1500568
ST024762
STK397040
Slo Phyllin
Slo-Bid
Slo-Phyllin
Slo-bid
Slo-phyllin
SloPhyllin
Solosin
Somophyllin CRT
Somophyllin T
Somophyllin-CRT
Somophyllin-Crt
Somophyllin-DF
Somophyllin-T
Somophyllin-t
SomophyllinT
Spectrum2_000842
Spectrum3_000672
Spectrum4_000353
Spectrum5_001232
Spectrum_001038
Spophyllin retard
Sustaire
Synophylate
Synophylate-L.A. Cenules
T-Phyl
T0179
T1633_SIGMA
T4924_SIGMA
T7770_SIGMA
T9031_SIGMA
THEOBID JR
Talotren
Tefamin
Telb-DS
Telbans Dry Syrup
Teocen 200
Teofilina
Teofilina [Polish]
Teofyllamin
Teolair
Teonova
Teosona
Tesona
Theacitin
Theal tabl.
Theal tablets
Theo 24
Theo Dur
Theo-11
Theo-24
Theo-24 (TN)
Theo-DS
Theo-Dur
Theo-Dur-Sprinkle
Theo-Nite
Theo-Organidin
Theo-Sav
Theo-dur
Theo24
Theobid
Theobid Duracap
Theobid Jr.
Theochron
Theocin
Theoclair-SR
Theoclear
Theoclear 80
Theoclear L.A.-130
Theoclear LA
Theoclear-200
Theoclear-80
Theocontin
Theodel
Theodrip
Theodur
Theodur Dry Syrup
Theodur G
Theodur G (TN)
Theofol
Theograd
Theokin
Theolair
Theolair (TN)
Theolair-SR
Theolair-Sr
Theolix
Theolixir
Theona P
Theonite
Theopek
Theophyl
Theophyl-225
Theophyl-SR
Theophyl-Sr
Theophyline
Theophyllin
Theophylline
Theophylline (Anhydrous)
Theophylline (JP15)
Theophylline Anhydrous
Theophylline Extended Release
Theophylline anhydrous
Theophylline(anhydrous)
Theophylline-SR
Theophylline-Sr
Theophylline-[8-3H
Theoplus
Theospan
Theostat
Theostat 80
Theotard
Theovent
UNII-0I55128JYK
UPCMLD-DP123
UPCMLD-DP123:001
Uni-Dur
Unifyl
Unilong
Uniphyl
Uniphyl (TN)
Uniphyllin
Uniphyllin continus
Uniphylline
X 115
Xanthium
Xantivent
ZINC18043251
aminophylline
ct, theo von
nchembio.273-comp2
theo von ct
theophylline
von ct, theo
5Purinergic P1 Receptor AntagonistsPhase 2262
6Vasodilator AgentsPhase 22926
7Phosphodiesterase InhibitorsPhase 21062
8Respiratory System AgentsPhase 23931
9Anti-Asthmatic AgentsPhase 22796
10Peripheral Nervous System AgentsPhase 218510
11Bronchodilator AgentsPhase 22377
12Neurotransmitter AgentsPhase 214795
13
Calcitriolapproved, nutraceutical16132222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1S,3R,5Z,7e)-9,10-Secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1alpha,3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
 
Ambap32222-06-3
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D
14Vitamins3857
15vitamin d1524
16Trace Elements3900
17Micronutrients3901
18Calcium, Dietary4678
19Bone Density Conservation Agents2600

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Albright Hereditary Osteodystrophy: Growth Hormone Trial and Cognitive/Behavioral AssessmentsRecruitingNCT00209235Phase 2, Phase 3
2Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)RecruitingNCT02463409Phase 2
3Study of the Regulation of Parathyroid Hormone Secretion in PseudohypoparathyroidismCompletedNCT00004661
4Hypoparathyroidism in DenmarkCompletedNCT01498341
5Physiologic Regulation of FGF-23CompletedNCT00356512
6Early-onset Obesity and Cognitive Impairment in Children With PseudohypoparathyroidismRecruitingNCT02411461
7Characterization of Patients With Non-surgical Hypoparathyroidism and PseudohypoparathyroidismRecruitingNCT02551120
8Resistance to Vitamin D or Parathyroid HormoneRecruitingNCT00001242
9Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
10Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1aActive, not recruitingNCT01398774
11Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)Active, not recruitingNCT00497484

Search NIH Clinical Center for Pseudohypoparathyroidism


Cochrane evidence based reviews: pseudohypoparathyroidism

Genetic Tests for Pseudohypoparathyroidism

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Anatomical Context for Pseudohypoparathyroidism

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MalaCards organs/tissues related to Pseudohypoparathyroidism:

33
Bone, Eye, Heart, Spinal cord, Breast, T cells, Prostate

Animal Models for Pseudohypoparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2APC, GNAS, PTH, PTH1R, PTHLH
2MP:00053827.7APC, GNAS, PTH, PTH1R, PTHLH
3MP:00053787.1APC, GNAL, GNAS, PTH, PTH1R, PTHLH

Publications for Pseudohypoparathyroidism

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Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 564)
idTitleAuthorsYear
1
Pseudohypoparathyroidism type Ib in 2015. (25910998)
2015
2
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? (26187296)
2015
3
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification. (24945424)
2014
4
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia. (25045367)
2014
5
Congestive heart failure: an unusual presentation of pseudohypoparathyroidism. (23823262)
2013
6
Clinical utility gene card for: pseudohypoparathyroidism. (22968134)
2013
7
An update on the clinical and molecular characteristics of pseudohypoparathyroidism. (23076042)
2012
8
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
9
Spinal-cord compression related to pseudohypoparathyroidism. (20851612)
2011
10
Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone. (22029008)
2011
11
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. (20719837)
2010
12
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (19530187)
2009
13
Pseudohypoparathyroidism: history of the disease. (16789627)
2006
14
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. (15633718)
2004
15
Suspected pseudohypoparathyroidism in a domestic ferret. (12710772)
2003
16
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. (12970262)
2003
17
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. (12729407)
2003
18
PTH/PTHrP receptor and pseudohypoparathyroidism]. (11857923)
2002
19
Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. (12041724)
2002
20
Pseudohypoparathyroidism: from bedside to bench and back. (10457257)
1999
21
Spinal cord compression by heterotopic ossification associated with pseudohypoparathyroidism. (9427170)
1997
22
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. (8702665)
1996
23
Real-time monitoring of reduced beta-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism. (8660590)
1996
24
Therapy-resistant seizures in pseudohypoparathyroidism. A case report. (8521197)
1995
25
Transient pseudohypoparathyroidism of the neonate. (7655638)
1995
26
Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. (8045737)
1994
27
Two cases of pseudohypoparathyroidism in adolescent boys. (9355673)
1994
28
The renal response to exogenous parathyroid hormone in treated pseudohypoparathyroidism. (8268047)
1993
29
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. (1356667)
1992
30
Pseudohypoparathyroidism: case report. (1881816)
1991
31
Heterogeneity of pseudohypoparathyroidism type I from the aspect of urinary excretion of calcium and serum levels of parathyroid hormone. (2108792)
1990
32
Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic clue for pseudohypoparathyroidism. (2171682)
1990
33
Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. (3753557)
1986
34
Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. (3089087)
1986
35
Multiple pre- and postreceptor defects in pseudohypoparathyroidism (a multicenter study with twenty four patients). (3001127)
1986
36
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. (4025387)
1985
37
Metabolic bone disease in pseudohypoparathyroidism: radiologic features. (3983385)
1985
38
Examination of circulating parathyroid hormone in pseudohypoparathyroidism. (4008609)
1985
39
Abnormalities in erythrocyte membrane protein in pseudohypoparathyroidism type 1. (6204003)
1984
40
Absence of overlapping resistance to vasopressin and parathyroid hormone in patients with nephrogenic diabetes insipidus and pseudohypoparathyroidism. (7107814)
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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Search GEO for disease gene expression data for Pseudohypoparathyroidism.

Pathways for genes affiliated with Pseudohypoparathyroidism

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GO Terms for genes affiliated with Pseudohypoparathyroidism

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Cellular components related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:00304258.6ADCY10, APC, BGLAP, GNAS

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cAMP biosynthetic processGO:000617110.2ADCY10, GNAS
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:000718910.0GNAL, PTH1R
3bone developmentGO:006034810.0BGLAP, GNAS
4cAMP metabolic processGO:00460589.8PTH, PTHLH
5adenylate cyclase-activating dopamine receptor signaling pathwayGO:00071919.8GNAL, GNAS
6osteoblast developmentGO:00020769.5BGLAP, PTHLH
7response to vitamin DGO:00332809.4BGLAP, PTH
8response to drugGO:00424939.1APC, BGLAP, GNAS

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

idNameGO IDScoreTop Affiliating Genes
1G-protein beta/gamma-subunit complex bindingGO:00316839.8GNAL, GNAS

Sources for Pseudohypoparathyroidism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet