MCID: ALB001
MIFTS: 49

Albright's Hereditary Osteodystrophy malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Bone diseases, Endocrine diseases

Aliases & Classifications for Albright's Hereditary Osteodystrophy

About this section
Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Albright's Hereditary Osteodystrophy:

Name: Albright's Hereditary Osteodystrophy 11 46 13 66
Albright Hereditary Osteodystrophy 11 46 52 25
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 46 23
Pseudohypoparathyroidism Type 1a 11 46
Php1a 46 23
 
Pseudohypoparathyroidism, Type Ia 66
Pseudohypoparathyroidism Type Ia 23
Pseudohypoparathyroidism 66
Php Ia 23
Aho 46

Classifications:



External Ids:

Disease Ontology11 DOID:0080053
Orphanet52 ORPHA665
UMLS via Orphanet67 C2931404
ICD10 via Orphanet29 E20.1
MESH via Orphanet38 C537045

Summaries for Albright's Hereditary Osteodystrophy

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NIH Rare Diseases:46 Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). the features of albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). this autosomal dominantly inherited condition is caused by mutations in the gnas gene. treatment consists of calcium and vitamin d supplements. last updated: 10/17/2012

MalaCards based summary: Albright's Hereditary Osteodystrophy, also known as albright 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 Albright's Hereditary Osteodystrophy is GNAS (GNAS Complex Locus), and among its related pathways are Endothelin and Endochondral Ossification. Affiliated tissues include h, foot and bone, and related mouse phenotypes are craniofacial and liver/biliary system.

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.

Related Diseases for Albright's Hereditary Osteodystrophy

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Diseases related to Albright's Hereditary Osteodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism, type ib31.8GNAS, STX16
2pseudopseudohypoparathyroidism11.9
3pseudohypoparathyroidism ia11.8
4chromosome 2q37 deletion syndrome11.8
52q37 microdeletion syndrome11.4
62q37 deletion syndrome11.4
7pseudohypoparathyroidism10.5
8pseudohypoparathyroidism ic10.4
9sensory peripheral neuropathy10.3GNAS, STX16
10obesity, severe bmiq910.3GNAS, STX16
11polycystic kidney disease10.2GNAS, STX16
12immunodeficiency 31a, mycobacteriosis, autosomal dominant10.2APC, HDAC4
13osseous heteroplasia, progressive10.2
14pseudohypoparathyroidism, type ii10.2
15echolalia10.2GNAS, STX16
16brachydactyly10.2
17loeys-dietz syndrome10.1GNAS, STX16
18congenital generalized lipodystrophy10.1GNAS, HDAC4
19legg-calve-perthes disease10.0
20spinal stenosis10.0
21ptosis10.0
22blepharophimosis10.0
23hypothyroidism10.0
24disease of mental health9.9ADCY10, GNAS
25bone osteosarcoma9.8GNAS, IGF2
26beckwith-wiedemann syndrome due to cdkn1c mutation9.8H19, IGF2
27beckwith-wiedemann syndrome due to 11p15 microdeletion9.8H19, IGF2
28hallermann-streiff syndrome9.8H19, IGF2
29ehlers-danlos syndrome, vascular-like type9.8H19, IGF2
30mucinous adenocarcinoma9.8APC, IGF2
31fetal methyl mercury syndrome9.8H19, IGF2
32protein s deficiency9.4GNAS, IGF2
33aromatic l-amino acid decarboxylase deficiency9.2GRB10, H19, IGF2
34charcot-marie-tooth disease type 77.2ADCY10, APC, GNAS, GRB10, H19, HDAC4

Graphical network of the top 20 diseases related to Albright's Hereditary Osteodystrophy:



Diseases related to albright's hereditary osteodystrophy

Symptoms for Albright's Hereditary Osteodystrophy

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Symptoms:

 52 (show all 35)
  • abnormality of the testis
  • abnormality of the penis
  • abnormality of the menstrual cycle
  • polycystic ovaries
  • coarse facial features
  • round face
  • hearing impairment
  • visual impairment
  • gynecomastia
  • precocious puberty
  • hyperthyroidism
  • goiter
  • menstrual irregularities
  • abnormality of the skull
  • dry skin
  • thin skin
  • intellectual disability
  • joint dislocation
  • subcutaneous nodule
  • obesity
  • alopecia
  • scoliosis
  • skeletal dysplasia
  • thickened calvaria
  • recurrent fractures
  • hyperphosphatemia
  • abnormality of the hip bone
  • multiple cafe-au-lait spots
  • testicular neoplasm
  • abnormal hair quantity
  • neoplasm of the breast
  • neoplasm of the thyroid gland
  • sarcoma
  • abnormality of calcium-phosphate metabolism
  • cognitive impairment

HPO human phenotypes related to Albright's Hereditary Osteodystrophy:

(show all 29)
id Description Frequency HPO Source Accession
1 round face hallmark (90%) HP:0000311
2 gynecomastia hallmark (90%) HP:0000771
3 precocious puberty hallmark (90%) HP:0000826
4 hyperthyroidism hallmark (90%) HP:0000836
5 cafe-au-lait spot hallmark (90%) HP:0000957
6 abnormal joint morphology hallmark (90%) HP:0001367
7 obesity hallmark (90%) HP:0001513
8 skeletal dysplasia hallmark (90%) HP:0002652
9 hyperphosphatemia hallmark (90%) HP:0002905
10 abnormality of calcium-phosphate metabolism hallmark (90%) HP:0100530
11 abnormality of the penis typical (50%) HP:0000036
12 abnormality of the menstrual cycle typical (50%) HP:0000140
13 coarse facial features typical (50%) HP:0000280
14 goiter typical (50%) HP:0000853
15 dry skin typical (50%) HP:0000958
16 thin skin typical (50%) HP:0000963
17 scoliosis typical (50%) HP:0002650
18 cognitive impairment typical (50%) HP:0100543
19 polycystic ovaries occasional (7.5%) HP:0000147
20 hearing impairment occasional (7.5%) HP:0000365
21 visual impairment occasional (7.5%) HP:0000505
22 alopecia occasional (7.5%) HP:0001596
23 recurrent fractures occasional (7.5%) HP:0002757
24 abnormality of the hip bone occasional (7.5%) HP:0003272
25 craniofacial hyperostosis occasional (7.5%) HP:0004493
26 testicular neoplasm occasional (7.5%) HP:0010788
27 neoplasm of the breast occasional (7.5%) HP:0100013
28 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
29 sarcoma occasional (7.5%) HP:0100242

UMLS symptoms related to Albright's Hereditary Osteodystrophy:


seizures

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

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Drugs for Albright's Hereditary Osteodystrophy (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:

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
3Early-onset Obesity and Cognitive Impairment in Children With PseudohypoparathyroidismRecruitingNCT02411461
4Resistance to Vitamin D or Parathyroid HormoneRecruitingNCT00001242
5Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1aActive, not recruitingNCT01398774
6Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)Active, not recruitingNCT00497484

Search NIH Clinical Center for Albright's Hereditary Osteodystrophy

Genetic Tests for Albright's Hereditary Osteodystrophy

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Genetic tests related to Albright's Hereditary Osteodystrophy:

id Genetic test Affiliating Genes
1 Albright's Hereditary Osteodystrophy25
2 Pseudohypoparathyroidism Type Ia23 GNAS

Anatomical Context for Albright's Hereditary Osteodystrophy

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MalaCards organs/tissues related to Albright's Hereditary Osteodystrophy:

34
Bone, Skin, Thyroid, Testis, Breast, Ovary

FMA organs/tissues related to Albright's Hereditary Osteodystrophy:

17
H, Foot

Animal Models for Albright's Hereditary Osteodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9APC, GNAS, HDAC4, IGF2
2MP:00053708.8APC, GNAS, GRB10, IGF2
3MP:00053698.3APC, GNAS, GRB10, HDAC4, IGF2

Publications for Albright's Hereditary Osteodystrophy

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Articles related to Albright's Hereditary Osteodystrophy:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS. (26116601)
2015
2
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. (23814007)
2013
3
Images in clinical medicine. Albright's hereditary osteodystrophy. (23268667)
2012
4
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. (22277900)
2012
5
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (22679513)
2012
6
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. (22814975)
2012
7
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. (19856255)
2010
8
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. (17405843)
2007
9
Albright's hereditary osteodystrophy with extensive heterotopic ossification of the oral and maxillofacial region: how fetuin research may help a seemingly impossible condition. (18028761)
2007
10
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. (16789632)
2006
11
Albright's hereditary osteodystrophy. (16514227)
2006
12
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. (16789630)
2006
13
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. (16116826)
2005
14
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. (15633718)
2004
15
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. (12656668)
2003
16
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. (12541184)
2002
17
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. (11600516)
2001
18
Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship? (11598374)
2001
19
Visual vignette. Albright's hereditary osteodystrophy(AHO). (11421203)
2000
20
Albright's hereditary osteodystrophy: historical credit. (11428358)
2000
21
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. (9589656)
1998
22
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. (9506735)
1998
23
Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese. (9447300)
1997
24
Albright's hereditary osteodystrophy. (8741028)
1996
25
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
26
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. (7566382)
1995
27
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. (7853365)
1994
28
Albright's hereditary osteodystrophy. (7837255)
1994
29
Cutaneous osteoma and Albright's hereditary osteodystrophy]. (7702269)
1994
30
Imprinting in Albright's hereditary osteodystrophy. (8383205)
1993
31
Cutaneous ossification in Albright's hereditary osteodystrophy. (8453149)
1993
32
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. (1356667)
1992
33
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? (1342872)
1992
34
Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion. (1678415)
1991
35
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. (2109828)
1990
36
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. (2121768)
1990
37
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. (3003142)
1986
38
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. (4025387)
1985
39
Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association. (3983044)
1985
40
Albright's hereditary osteodystrophy. (6246707)
1980
41
Parathyroid hormone deficiency with Albright's hereditary osteodystrophy. (4370248)
1974
42
Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder. (4359274)
1973
43
Albright's hereditary osteodystrophy with cutaneous bone formation. (5002252)
1971
44
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. (5125407)
1971
45
Osteoma cutis and Albright's hereditary osteodystrophy. (5002319)
1971
46
Albright's hereditary osteodystrophy associated with disc calcification and bilateral dislocation of the hips. (5672549)
1968
47
ALBRIGHT'S HEREDITARY OSTEODYSTROPHY IN A MOTHER AND DAUGHTER. (14336930)
1965
48
ALBRIGHT'S HEREDITARY OSTEODYSTROPHY. THE EFFECT OF TREATMENT DURING ADOLESCENCE. (14305962)
1965
49
PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY. (14117275)
1964
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 Albright's Hereditary Osteodystrophy

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Expression for genes affiliated with Albright's Hereditary Osteodystrophy

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Search GEO for disease gene expression data for Albright's Hereditary Osteodystrophy.

Pathways for genes affiliated with Albright's Hereditary Osteodystrophy

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Pathways related to Albright's Hereditary Osteodystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5ADCY10, GNAS
29.2HDAC4, IGF2

GO Terms for genes affiliated with Albright's Hereditary Osteodystrophy

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Cellular components related to Albright's Hereditary Osteodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:00304258.7ADCY10, APC, GNAS
2cytosolGO:00058297.7ADCY10, APC, GNAS, GRB10, HDAC4, STX16

Biological processes related to Albright's Hereditary Osteodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular response to mechanical stimulusGO:00712609.5HDAC4, IGF2
2response to drugGO:00424938.4APC, GNAS, HDAC4, IGF2

Molecular functions related to Albright's Hereditary Osteodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:00051599.5GNAS, IGF2
2insulin receptor bindingGO:00051589.2GRB10, IGF2

Sources for Albright's Hereditary Osteodystrophy

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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