MCID: PSD015
MIFTS: 43

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

About this section

Summaries for Pseudohypoparathyroidism

About this section
NIH Rare Diseases:46 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, eye and thyroid.

Wikipedia:69 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

Related Diseases for Pseudohypoparathyroidism

About this section

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 159)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism, type ib34.1GNAS, PTH, STX16
2pseudohypoparathyroidism ia12.4
3pseudohypoparathyroidism, type ii12.4
4pseudohypoparathyroidism ic12.3
5pseudopseudohypoparathyroidism11.9
6albright's hereditary osteodystrophy11.9
7charcot-marie-tooth disease type 710.6GNAS, STX16
8acrodysostosis10.5
9impotence10.5PTH, PTH1R
10chondrodysplasia, blomstrand type10.5PTH, PTH1R
11adenomyoma10.5PTH1R, PTHLH
12adult pineal parenchymal tumor10.4PTH, PTHLH
13ptosis, strabismus, and ectopic pupils10.4PTH1R, PTHLH
14hypoparathyroidism10.4
15bone osteosarcoma10.4GNAS, PTHLH
16onychotrichodysplasia and neutropenia10.4PTH, PTHLH
17acidophil adenoma10.4PTH, PTHLH
18fumarate hydratase deficiency10.4GNAS, PRL
19small cell osteogenic sarcoma10.4GNAS, PTHLH
20papilledema10.3PTH, TRH
21chronic rheumatic pericarditis10.3PTH, PTHLH
22mild phosphoribosylpyrophosphate synthetase superactivity10.3PTH1R, PTHLH
23sensory peripheral neuropathy10.3GNAS, PTH, STX16
24polycystic kidney disease10.3GNAS, PTH, STX16
25osseous heteroplasia, progressive10.3GNAS, PRL
26loeys-dietz syndrome10.3GNAS, PTH, STX16
27cold-induced sweating syndrome 210.3GNAS, PRL
28anal buschke-lowenstein tumor10.3PTH, PTHLH
29postural hypotension10.3GNAS, PRL
30fryns macrocephaly10.2PTH1R, PTHLH
31acute myocarditis10.2GNAS, PRL
32neuropathy, ataxia, and retinitis pigmentosa10.2GNAS, PTH1R, PTHLH
33hypothyroidism10.2
34obesity10.2
35pituitary adenoma, prolactin-secreting10.1GNAS, PRL
36t cell deficiency10.1GNAS, PTH, PTHLH
37genetic lipodystrophy10.1PRL, TRH
38astrakhan spotted fever10.1PTH, PTHLH
39bardet-biedl syndrome10.1PRL, TRH
40aneurysm or dilatation of ascending aorta10.1PRL, TRH
41toenail dystrophy, isolated10.1PTH, PTH1R, PTHLH
42hyperparathyroidism10.1
43hypothalamic neoplasm10.1PRL, TRH
44thyroiditis10.1
45central retinal vein occlusion10.1PRL, TRH
46acute myeloid leukemia, kit-related10.1PRL, TRH
47achondrogenesis10.1BGLAP, PTH
48rickets10.1
49weaver syndrome 110.1BGLAP, PTH
50lipoadenoma10.0PRL, TRH

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to pseudohypoparathyroidism

Symptoms for Pseudohypoparathyroidism

About this section

Drugs & Therapeutics for Pseudohypoparathyroidism

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TheophyllinePhase 26058-55-92153
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
2vitamin d1607
3
Calcitriol19432222-06-3134070, 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
4
ErgocalciferolNutraceutical121150-14-65280793
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

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

About this section

Anatomical Context for Pseudohypoparathyroidism

About this section

MalaCards organs/tissues related to Pseudohypoparathyroidism:

34
Bone, Eye, Thyroid, Testes, Spinal cord, Skin, Kidney

Animal Models for Pseudohypoparathyroidism or affiliated genes

About this section

Publications for Pseudohypoparathyroidism

About this section

Articles related to Pseudohypoparathyroidism:

(show top 50)    (show all 572)
idTitleAuthorsYear
1
Cataract in pseudohypoparathyroidism. (27492110)
2016
2
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. (27415614)
2016
3
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? (26187296)
2015
4
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification. (24945424)
2014
5
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia. (25045367)
2014
6
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. (25005734)
2014
7
A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay. (24785890)
2014
8
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
9
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. (22140064)
2012
10
Screening for parathyroid hormone resistance in patients with nonphenotypically evident pseudohypoparathyroidism. (22784837)
2012
11
Parathyroid hormone signaling via GI+s is selectively inhibited by an NH(2)-terminally truncated GI+s: implications for pseudohypoparathyroidism. (21713996)
2011
12
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (19530187)
2009
13
Unusual long bone and metacarpo-carpal abnormalities in a case of pseudo-pseudohypoparathyroidism. (16575490)
2007
14
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. (17392598)
2007
15
Pseudohypoparathyroidism: history of the disease. (16789627)
2006
16
Suspected pseudohypoparathyroidism in a domestic ferret. (12710772)
2003
17
Pseudohypoparathyroidism with systemic lupus erythematosus. (12693459)
2003
18
Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. (12041724)
2002
19
Hypoparathyroidism and pseudohypoparathyroidism. (12070488)
2002
20
Pseudohypoparathyroidism: a multitude of mutations in the stimulatory G protein alpha subunit (Gsalpha). (11924927)
2002
21
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. (11406605)
2001
22
Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ib and II]. (10518973)
1999
23
Inhibited hypothalamic-pituitary-thyroid axis in type I pseudohypoparathyroidism. (15251689)
1999
24
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (9751745)
1998
25
Spinal cord compression by heterotopic ossification associated with pseudohypoparathyroidism. (9427170)
1997
26
Transient pseudohypoparathyroidism of the neonate. (7655638)
1995
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
Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. (3753557)
1986
32
Human placental production of 1 alpha,25-dihydroxyvitamin D3: biochemical characterization and production in normal subjects and patients with pseudohypoparathyroidism. (3753556)
1986
33
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. (3934357)
1985
34
Inheritance of pseudohypoparathyroidism. (3976598)
1985
35
Abnormalities in erythrocyte membrane protein in pseudohypoparathyroidism type 1. (6204003)
1984
36
Pseudohypoparathyroidism: a case report. (6671445)
1983
37
Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism. (6822662)
1983
38
Improvement in abnormal secretion of thyrotropin and gonadotropin after restoration of serum calcium is pseudohypoparathyroidism. (6286295)
1982
39
Transient neonatal hyperparathyroidism secondary to maternal pseudohypoparathyroidism. (7073308)
1982
40
Pseudohypoparathyroidism. (6287085)
1982
41
Dissociation of parathyroid hormone bioactivity and immunoreactivity in pseudohypoparathyroidism type I. (7298795)
1981
42
Pseudohypoparathyroidism: an inherited disorder of adenylate cyclase. (6269394)
1981
43
Pseudohypoparathyroidism associated with hypercalcitoninaemia. (7355665)
1980
44
Effect of acetazolamide on calcium and phosphate metabolism in type I pseudohypoparathyroidism: interaction with parathyroid hormone. (219008)
1979
45
Pseudohypoparathyroidism and Capgras syndrome. (667505)
1978
46
Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism. (657576)
1978
47
Prolactin deficiency in pseudohypoparathyroidism. (401530)
1977
48
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. (188348)
1977
49
Pseudohypoparathyroidism. Disappearance of the resistance to parathyroid extract during treatment with vitamin D. (1138547)
1975
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

About this section

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

About this section
Search GEO for disease gene expression data for Pseudohypoparathyroidism.

Pathways for genes affiliated with Pseudohypoparathyroidism

About this section

GO Terms for genes affiliated with Pseudohypoparathyroidism

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.7BGLAP, PRL, PTH, PTHLH, TRH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:000611210.3GNAS, MC4R
2cAMP metabolic processGO:004605810.2PTH, PTHLH
3bone resorptionGO:004545310.1PTH, PTH1R
4negative regulation of feeding behaviorGO:20002529.8MC4R, TRH
5bone developmentGO:00603489.8BGLAP, GNAS
6response to vitamin DGO:00332809.6BGLAP, PTH
7adenylate cyclase-modulating G-protein coupled receptor signaling pathwayGO:00071889.5MC4R, PTH1R
8bone mineralizationGO:00302829.5BGLAP, PTH1R
9cell-cell signalingGO:00072679.4PTH, PTHLH, TRH
10positive regulation of cAMP biosynthetic processGO:00308199.3MC4R, PTH, PTHLH
11osteoblast developmentGO:00020769.3BGLAP, PTH1R, PTHLH
12adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.0GNAS, PTH, PTH1R, PTHLH
13skeletal system developmentGO:00015018.6BGLAP, PTH, PTH1R, PTHLH
14response to ethanolGO:00454718.5BGLAP, PTH, TRH

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

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:005142810.1PTH, PTHLH
2peptide hormone bindingGO:00170469.5MC4R, PTH1R
3hormone activityGO:00051798.8PRL, PTH, PTHLH

Sources for Pseudohypoparathyroidism

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet