MCID: PSD015
MIFTS: 44

Pseudohypoparathyroidism malady

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

Aliases & Classifications for Pseudohypoparathyroidism

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Summaries for Pseudohypoparathyroidism

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NIH Rare Diseases:48 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, type ib and pseudohypoparathyroidism ia. 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, testes and thyroid, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Wikipedia:71 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 Ii

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

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism, type ib33.9GNAS, PTH, STX16
2pseudohypoparathyroidism ia12.5
3pseudohypoparathyroidism ic12.3
4pseudohypoparathyroidism, type ii12.3
5pseudopseudohypoparathyroidism12.0
6osseous heteroplasia, progressive10.8
7adenomyoma10.4PTH1R, PTHLH
8bone osteosarcoma10.3GNAS, PTHLH
9impotence10.3PTH, PTH1R
10small cell osteogenic sarcoma10.3GNAS, PTHLH
11chondrodysplasia, blomstrand type10.3PTH, PTH1R
12adult pineal parenchymal tumor10.3PTH, PTHLH
13ptosis, strabismus, and ectopic pupils10.3PTH1R, PTHLH
14hypoparathyroidism10.3
15onychotrichodysplasia and neutropenia10.3PTH, PTHLH
16acidophil adenoma10.3PTH, PTHLH
17mild phosphoribosylpyrophosphate synthetase superactivity10.2PTH1R, PTHLH
18chronic rheumatic pericarditis10.2PTH, PTHLH
19fryns macrocephaly10.2PTH1R, PTHLH
20achondrogenesis10.2BGLAP, PTH
21immunodeficiency 31a, mycobacteriosis, autosomal dominant10.2APC, PTHLH
22weaver syndrome 110.2BGLAP, PTH
23anal buschke-lowenstein tumor10.2PTH, PTHLH
24parathyroid transitional clear cell adenoma10.2BGLAP, PTH
25sensory peripheral neuropathy10.2GNAS, PTH, STX16
26gestational diabetes10.1BGLAP, PTH
27capillariasis10.1BGLAP, PTH
28dyscalculia10.1BGLAP, PTH
29loeys-dietz syndrome10.1GNAS, PTH, STX16
30neuropathy, ataxia, and retinitis pigmentosa10.1GNAS, PTH1R, PTHLH
31astrakhan spotted fever10.1PTH, PTHLH
32silver-russell syndrome due to 7p11.2p13 microduplication10.1ADCY10, BGLAP
33bacillary angiomatosis10.1BGLAP, PTH
34male reproductive organ benign neoplasm10.1GNAS, PTH
35t cell deficiency10.0GNAS, PTH, PTHLH
36hypothyroidism10.0
37obesity10.0
38toenail dystrophy, isolated10.0PTH, PTH1R, PTHLH
39commensal bacterial infectious disease10.0BGLAP, PTH
40hyperparathyroidism10.0
41physical disorder10.0BGLAP, PTH
42thyroiditis10.0
43retroperitoneal germ cell neoplasm9.9BGLAP, PTH1R, PTHLH
44rickets9.9
45acquired hyperkeratosis9.9BGLAP, PTH, PTH1R
46brachydactyly9.9
47growth hormone deficiency9.9
48cranial nerve palsy9.9BGLAP, PTH, PTHLH
49mixed cell type adenoma of parathyroid9.9BGLAP, PTH, PTHLH
50bone deterioration disease9.9BGLAP, PTH

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Symptoms & Phenotypes for Pseudohypoparathyroidism

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0APC, GNAS, PTH, PTH1R, PTHLH
2MP:00053718.3APC, GNAS, PTH, PTH1R, PTHLH

Drugs & Therapeutics for Pseudohypoparathyroidism

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

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 2, Phase 313979
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 312767
3Hormone AntagonistsPhase 2, Phase 312778
4
TheophyllineapprovedPhase 26258-55-92153
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 (JP15)
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
5Anti-Asthmatic AgentsPhase 23369
6Vasodilator AgentsPhase 23438
7Autonomic AgentsPhase 29774
8Respiratory System AgentsPhase 24818
9Purinergic P1 Receptor AntagonistsPhase 2348
10Bronchodilator AgentsPhase 22856
11Neurotransmitter AgentsPhase 217734
12Peripheral Nervous System AgentsPhase 222776
13Phosphodiesterase InhibitorsPhase 21254
14
Ergocalciferolapproved, nutraceutical123250-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
15
Calcitriolapproved, nutraceutical20132222-06-3134070, 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
16vitamin d1653
17Vitamins5095
18Micronutrients5802
19Trace Elements5802
20Bone Density Conservation Agents3266
21Ergocalciferols1232
22Calcium, Dietary5525
23Vitamin D2Nutraceutical1232
24CalciferolNutraceutical1334

Interventional clinical trials:

(show all 13)
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)CompletedNCT02463409Phase 2
3Theophylline Treatment for PseudohypoparathyroidismNot yet recruitingNCT03029429Phase 2
4Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)Unknown statusNCT00497484
5Early-onset Obesity and Cognitive Impairment in Children With PseudohypoparathyroidismCompletedNCT02411461
6Study of the Regulation of Parathyroid Hormone Secretion in PseudohypoparathyroidismCompletedNCT00004661
7Hypoparathyroidism in DenmarkCompletedNCT01498341
8Physiologic Regulation of FGF-23CompletedNCT00356512
9Characterization of Patients With Non-surgical Hypoparathyroidism and PseudohypoparathyroidismRecruitingNCT02551120
10Resistance to Vitamin D or Parathyroid HormoneRecruitingNCT00001242
11Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
12Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary HyperparathyroidismRecruitingNCT03027349
13Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1aActive, not recruitingNCT01398774

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:

36
Bone, Testes, Thyroid, Spinal cord, Skin, Kidney, Pituitary

Publications for Pseudohypoparathyroidism

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Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 585)
idTitleAuthorsYear
1
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding GsI+ Is Associated with Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). (28084650)
2017
2
Nonclassic features of pseudohypoparathyroidism type 1A. (27875418)
2017
3
Cataract in pseudohypoparathyroidism. (27492110)
2016
4
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. (27415614)
2016
5
Hypocalcemic Cardiomyopathy and Pseudohypoparathyroidism Due to Severe Vitamin D Deficiency. (27739274)
2016
6
Pseudohypoparathyroidism and GsI+-cAMP-linked disorders: current view and open issues. (27109785)
2016
7
Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism. (27390678)
2016
8
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. (27170606)
2016
9
Spondyloarthropathy-Like Findings and Diffuse Osteosclerosis as the Presenting Feature of Pseudohypoparathyroidism. (26906309)
2016
10
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? (27703483)
2016
11
Osteosarcoma in a Patient with Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. (27859596)
2016
12
A novel mutation in a case of pseudohypoparathyroidism type Ia. (27922245)
2016
13
Pseudohypoparathyroidism: one gene, several syndromes. (27995443)
2016
14
Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A. (26709970)
2016
15
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? (27121328)
2016
16
Pseudohypoparathyroidism Type IA Subclinical Hypothyroidism and Rapid Weight Gain weight As Early Clinical Signs. A clinical Study of 10 Cases. (27467896)
2016
17
Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. (27901178)
2016
18
Management of pseudohypoparathyroidism in pregnancy: a case report. (27981863)
2016
19
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. (26763073)
2016
20
Isolated PTH Renal Resistance Pseudohypoparathyroidism 1b: A Rare Cause of Hypocalcemia. (27935921)
2016
21
Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene. (27425121)
2016
22
Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. (26628282)
2016
23
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. (27871293)
2016
24
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. (26855372)
2016
25
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network. (27401862)
2016
26
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. (27882740)
2016
27
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. (27857805)
2016
28
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. (27253667)
2016
29
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. (26819647)
2016
30
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? (26187296)
2015
31
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. (25464124)
2015
32
Acrodysostosis: A new form of pseudohypoparathyroidism? (25890446)
2015
33
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. (25762030)
2015
34
A case report of a 14A year old male with pseudohypoparathyroidism associated with multiple hormonal resistance. (25646052)
2015
35
Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. (25925491)
2015
36
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. (26479409)
2015
37
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. (25802881)
2015
38
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects. (26367199)
2015
39
Monitoring of hypo- and pseudohypoparathyroidism. (25916758)
2015
40
Pseudohypoparathyroidism type Ib in 2015. (25910998)
2015
41
An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism. (25943944)
2015
42
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. (25710380)
2015
43
Clinical insights by the presence of bipolar disorder in pseudohypoparathyroidism type 1A. (26160055)
2015
44
Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism. (25882888)
2015
45
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. (25843330)
2015
46
Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism. (25591844)
2015
47
Families of Pseudohypoparathyroidism presenting as Seizure. (27608698)
2015
48
Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. (26387561)
2015
49
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene. (26401884)
2015
50
Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms. (25594858)
2015

Variations for Pseudohypoparathyroidism

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Copy number variations for Pseudohypoparathyroidism from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1155546205665973356687988DeletionSTX16Pseudohypoparathyroidism
2155582205684818956919645DeletionGNASPseudohypoparathyroidism

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:00304258.2ADCY10, APC, BGLAP, GNAS

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:004545310.4PTH, PTH1R
2cAMP metabolic processGO:004605810.3PTH, PTHLH
3adenylate cyclase-activating dopamine receptor signaling pathwayGO:000719110.3GNAL, GNAS
4positive regulation of cAMP biosynthetic processGO:003081910.3PTH, PTHLH
5bone developmentGO:006034810.3BGLAP, GNAS
6bone mineralizationGO:003028210.2BGLAP, PTH1R
7response to vitamin DGO:003328010.2BGLAP, PTH
8osteoblast developmentGO:00020769.7BGLAP, PTH1R, PTHLH
9response to drugGO:00424939.3APC, BGLAP, GNAS, PTH
10adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.1GNAL, GNAS, PTH, PTH1R, PTHLH
11skeletal system developmentGO:00015018.7BGLAP, PTH, PTH1R, PTHLH

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

idNameGO IDScoreTop Affiliating Genes
1G-protein beta/gamma-subunit complex bindingGO:00316839.9GNAL, GNAS
2peptide hormone receptor bindingGO:00514289.7PTH, PTHLH

Sources for Pseudohypoparathyroidism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet