MCID: PSD067
MIFTS: 52

Pseudohypoparathyroidism Ia malady

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

Aliases & Classifications for Pseudohypoparathyroidism Ia

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Aliases & Descriptions for Pseudohypoparathyroidism Ia:

Name: Pseudohypoparathyroidism Ia 51 24 12
Albright's Hereditary Osteodystrophy 11 47 13 67
Albright Hereditary Osteodystrophy 11 47 69 26
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 47 24 69
Pseudohypoparathyroidism Type 1a 11 47 53
Php1a 47 24 69
Pseudohypoparathyroidism, Type Ia 51 67
 
Pseudohypoparathyroidism 1a 69 26
Aho 47 69
Albright Hereditary Osteodystrophy-Php Syndrome Ia 53
Pseudohypoparathyroidism 67
Aho-Php Syndrome Ia 53
Php Ia 24

Characteristics:

Orphanet epidemiological data:

53
pseudohypoparathyroidism type 1a:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
pseudohypoparathyroidism ia:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 103580
Disease Ontology11 DOID:0080053
Orphanet53 ORPHA79443
ICD10 via Orphanet30 E20.1
UMLS via Orphanet68 C3494506
MeSH38 D011547

Summaries for Pseudohypoparathyroidism Ia

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OMIM:51 Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ... (103580) more...

MalaCards based summary: Pseudohypoparathyroidism Ia, also known as albright's hereditary osteodystrophy, is related to pseudohypoparathyroidism, type ib and pseudopseudohypoparathyroidism, and has symptoms including round face, gynecomastia and precocious puberty. An important gene associated with Pseudohypoparathyroidism Ia is GNAS (GNAS Complex Locus), and among its related pathways are Amoebiasis and Corticotropin-releasing hormone. Affiliated tissues include h, foot and bone, and related mouse phenotypes are craniofacial and skeleton.

Disease Ontology:11 An osteochondrodysplasia that has material basis in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.

UniProtKB/Swiss-Prot:69 Albright hereditary osteodystrophy: A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. Pseudohypoparathyroidism 1A: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification.

NIH Rare Diseases:47 Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner. Last updated: 1/7/2016

Related Diseases for Pseudohypoparathyroidism Ia

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Graphical network of diseases related to Pseudohypoparathyroidism Ia:



Diseases related to pseudohypoparathyroidism ia

Symptoms for Pseudohypoparathyroidism Ia

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Symptoms by clinical synopsis from OMIM:

103580

Clinical features from OMIM:

103580

Human phenotypes related to Pseudohypoparathyroidism Ia:

 63 (show all 54)
id Description HPO Frequency HPO Source Accession
1 round face63 hallmark (90%) HP:0000311
2 gynecomastia63 hallmark (90%) HP:0000771
3 precocious puberty63 hallmark (90%) HP:0000826
4 hyperthyroidism63 hallmark (90%) HP:0000836
5 cafe-au-lait spot63 hallmark (90%) HP:0000957
6 abnormal joint morphology63 hallmark (90%) HP:0001367
7 obesity63 hallmark (90%) HP:0001513
8 skeletal dysplasia63 hallmark (90%) HP:0002652
9 hyperphosphatemia63 hallmark (90%) HP:0002905
10 abnormality of calcium-phosphate metabolism63 hallmark (90%) HP:0100530
11 abnormality of the penis63 typical (50%) HP:0000036
12 abnormality of the menstrual cycle63 typical (50%) HP:0000140
13 coarse facial features63 typical (50%) HP:0000280
14 goiter63 typical (50%) HP:0000853
15 dry skin63 typical (50%) HP:0000958
16 thin skin63 typical (50%) HP:0000963
17 scoliosis63 typical (50%) HP:0002650
18 cognitive impairment63 typical (50%) HP:0100543
19 polycystic ovaries63 occasional (7.5%) HP:0000147
20 hearing impairment63 occasional (7.5%) HP:0000365
21 visual impairment63 occasional (7.5%) HP:0000505
22 alopecia63 occasional (7.5%) HP:0001596
23 recurrent fractures63 occasional (7.5%) HP:0002757
24 abnormality of the hip bone63 occasional (7.5%) HP:0003272
25 craniofacial hyperostosis63 occasional (7.5%) HP:0004493
26 testicular neoplasm63 occasional (7.5%) HP:0010788
27 neoplasm of the breast63 occasional (7.5%) HP:0100013
28 neoplasm of the thyroid gland63 occasional (7.5%) HP:0100031
29 sarcoma63 occasional (7.5%) HP:0100242
30 hypogonadism63 HP:0000135
31 full cheeks63 HP:0000293
32 short neck63 HP:0000470
33 cataract63 HP:0000518
34 nystagmus63 HP:0000639
35 delayed eruption of teeth63 HP:0000684
36 hypothyroidism63 HP:0000821
37 pseudohypoparathyroidism63 HP:0000852
38 osteoporosis63 HP:0000939
39 brachydactyly syndrome63 HP:0001156
40 intellectual disability63 HP:0001249
41 seizures63 HP:0001250
42 short toe63 HP:0001831
43 basal ganglia calcification63 HP:0002135
44 thickened calvaria63 HP:0002684
45 elevated circulating parathyroid hormone level63 HP:0003165
46 low urinary cyclic amp response to pth administration63 HP:0003456
47 hypocalcemic tetany63 HP:0003472
48 short stature63 HP:0004322
49 depressed nasal bridge63 HP:0005280
50 hypoplasia of dental enamel63 HP:0006297
51 choroid plexus calcification63 HP:0006960
52 short finger63 HP:0009381
53 short metacarpal63 HP:0010049
54 short metatarsal63 HP:0010743

UMLS symptoms related to Pseudohypoparathyroidism Ia:


seizures

Drugs & Therapeutics for Pseudohypoparathyroidism Ia

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

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 312767
2HormonesPhase 2, Phase 313979
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
5Respiratory System AgentsPhase 24818
6Vasodilator AgentsPhase 23438
7Autonomic AgentsPhase 29774
8Purinergic P1 Receptor AntagonistsPhase 2348
9Anti-Asthmatic AgentsPhase 23369
10Phosphodiesterase InhibitorsPhase 21254
11Neurotransmitter AgentsPhase 217734
12Bronchodilator AgentsPhase 22856
13Peripheral Nervous System AgentsPhase 222776
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
16Trace Elements5802
17Vitamins5095
18vitamin d1653
19Micronutrients5802
20Bone Density Conservation Agents3266
21Ergocalciferols1232
22Calcium, Dietary5525
23CalciferolNutraceutical1334
24Vitamin D2Nutraceutical1232

Interventional clinical trials:

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
6Resistance to Vitamin D or Parathyroid HormoneRecruitingNCT00001242
7Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1aActive, not recruitingNCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism Ia

Genetic Tests for Pseudohypoparathyroidism Ia

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Genetic tests related to Pseudohypoparathyroidism Ia:

id Genetic test Affiliating Genes
1 Albright's Hereditary Osteodystrophy26
2 Pseudohypoparathyroidism Type 1a26
3 Pseudohypoparathyroidism Ia24 GNAS

Anatomical Context for Pseudohypoparathyroidism Ia

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MalaCards organs/tissues related to Pseudohypoparathyroidism Ia:

35
Bone, Thyroid, Skin, Ovary, Eye

FMA organs/tissues related to Pseudohypoparathyroidism Ia:

17
H, Foot

Animal Models for Pseudohypoparathyroidism Ia or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism Ia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2GNA11, GNAS, HDAC4, PTH
2MP:00053907.7FARP2, GNA11, GNAS, HDAC4, PTH

Publications for Pseudohypoparathyroidism Ia

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Articles related to Pseudohypoparathyroidism Ia:

idTitleAuthorsYear
1
A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia. (23926390)
2011
2
Pseudohypoparathyroidism Ia with Evans syndrome. (18799944)
2008
3
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. (11788646)
2002
4
Pseudohypoparathyroidism Ia and hypercalcitoninemia. (11443172)
2001

Variations for Pseudohypoparathyroidism Ia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoparathyroidism Ia:

69 (show all 16)
id Symbol AA change Variation ID SNP ID
1GNASp.Leu99ProVAR_003439rs137854531
2GNASp.Arg165CysVAR_003440rs137854532
3GNASp.Arg385HisVAR_003444
4GNASp.Arg258TrpVAR_015388rs137854535
5GNASp.Pro115LeuVAR_017843rs137854539
6GNASp.Arg231HisVAR_017848rs137854538
7GNASp.Ser250ArgVAR_017849rs137854534
8GNASp.Ala366SerVAR_017850rs137854537
9GNASp.Asp156AsnVAR_031873
10GNASp.Val159MetVAR_031874
11GNASp.Thr242IleVAR_031875
12GNASp.Phe246SerVAR_031876
13GNASp.Glu259ValVAR_031877
14GNASp.Arg280GlyVAR_031878
15GNASp.Arg280LysVAR_031879
16GNASp.Lys338AsnVAR_031881

Clinvar genetic disease variations for Pseudohypoparathyroidism Ia:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_001077488.3(GNAS): c.1A> G (p.Met1Val)SNVPathogenicrs137854530GRCh37Chr 20, 57466782: 57466782
2GNASGNAS, IVS10DS, G-C, +1SNVPathogenicChr na, -1: -1
3GNASGNAS, 1-BP DEL, 725CdeletionPathogenicChr na, -1: -1
4GNASGNAS, IVS3AS, A-G, -12SNVPathogenicChr na, -1: -1
5GNASNM_001077488.3(GNAS): c.299T> C (p.Leu100Pro)SNVPathogenicrs137854531GRCh37Chr 20, 57478624: 57478624
6GNASNM_001077488.3(GNAS): c.496C> T (p.Arg166Cys)SNVPathogenicrs137854532GRCh37Chr 20, 57480498: 57480498
7GNASNM_001077488.3(GNAS): c.568_571delGACT (p.Asp190Metfs)deletionPathogenicrs587776829GRCh37Chr 20, 57484251: 57484254
8GNASNM_001077488.3(GNAS): c.753C> G (p.Ser251Arg)SNVPathogenicrs137854534GRCh37Chr 20, 57484770: 57484770
9GNASGNAS, 38-BP DEL, EX1/IVS1 BOUNDARYdeletionPathogenicChr na, -1: -1
10GNASNM_001077488.3(GNAS): c.695G> A (p.Arg232His)SNVPathogenicrs137854538GRCh37Chr 20, 57484608: 57484608
11GNASGNAS, 2-BP DEL, GA, EXON 8deletionPathogenicChr na, -1: -1
12GNASGNAS, 2-BP DEL, CT, EXON 4deletionPathogenicChr na, -1: -1
13GNASGNAS, 1-BP DEL, 348CdeletionPathogenicChr na, -1: -1
14GNASGNAS, 1-BP DEL, C, EXON 1deletionPathogenicChr na, -1: -1
15GNASGNAS, 2-BP DEL, TG, EXON 11deletionPathogenicChr na, -1: -1
16GNASNM_001077488.3(GNAS): c.347C> T (p.Pro116Leu)SNVPathogenicrs137854539GRCh37Chr 20, 57478758: 57478758
17GNASGNAS, 1-BP INS, A, EXON 3insertionPathogenicChr na, -1: -1
18GNASGNAS, 12-BP INS, NT1107insertionPathogenicChr na, -1: -1
19GNASNM_000516.5(GNAS): c.34C> T (p.Gln12Ter)SNVPathogenicrs797045046GRCh37Chr 20, 57466815: 57466815
20GNASNM_000516.5(GNAS): c.880C> T (p.Gln294Ter)SNVLikely pathogenicrs863224876GRCh37Chr 20, 57485046: 57485046
21GNASNM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys)SNVPathogenicrs397514456GRCh37Chr 20, 57485873: 57485873

Expression for genes affiliated with Pseudohypoparathyroidism Ia

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Search GEO for disease gene expression data for Pseudohypoparathyroidism Ia.

Pathways for genes affiliated with Pseudohypoparathyroidism Ia

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GO Terms for genes affiliated with Pseudohypoparathyroidism Ia

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

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.5GNAS, PTH
2skeletal system developmentGO:00015019.1GNA11, HDAC4, PTH
3response to drugGO:00424939.0GNAS, HDAC4, PTH

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

idNameGO IDScoreTop Affiliating Genes
1G-protein beta/gamma-subunit complex bindingGO:00316839.6GNA11, GNAS

Sources for Pseudohypoparathyroidism Ia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet