MCID: ALB001
MIFTS: 53

Albright's Hereditary Osteodystrophy malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases categories

Aliases & Classifications for Albright's Hereditary Osteodystrophy

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 65UMLS, 22GeneTests, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Albright's Hereditary Osteodystrophy:

Name: Albright's Hereditary Osteodystrophy 10 45 12 65
Pseudohypoparathyroidism Type 1a 10 45 22 51 24
Albright Hereditary Osteodystrophy 10 45 51 24
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 45 22
Php1a 45 22
Albright Hereditary Osteodystrophy - Php Ia 51
 
Pseudohypoparathyroidism, Type Ia 65
Pseudohypoparathyroidism 65
Aho - Php Ia 51
Php Ia 22
Aho 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
albright hereditary osteodystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy
pseudohypoparathyroidism type 1a:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0080053
Orphanet51 665, 79443
ICD10 via Orphanet28 E20.1
MESH via Orphanet37 C537045
UMLS via Orphanet66 C2931404, C3494506

Summaries for Albright's Hereditary Osteodystrophy

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NIH Rare Diseases:45 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 pseudohypoparathyroidism type 1a, is related to pseudohypoparathyroidism ic and pseudohypoparathyroidism, 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:10 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 top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism ic30.5APC, GNAS
2pseudohypoparathyroidism11.0
3pseudohypoparathyroidism ia10.6
42q37 microdeletion syndrome10.6
5obesity10.6
6pseudohypoparathyroidism, type ib10.5
7pseudopseudohypoparathyroidism10.5
8chromosome 2q37 deletion syndrome10.4
9brachydactyly10.4
102q37 deletion syndrome10.4
11congenital hypothyroidism10.4
12hypothyroidism10.4
13thyroiditis10.4
14growth hormone deficiency10.4
15legg-calve-perthes disease10.3
16growth retardation with deafness and mental retardation due to igf1 deficiency10.3
17insulin-like growth factor i10.3
18osseous heteroplasia, progressive10.3
19spinal and bulbar muscular atrophy of kennedy10.3
20spinal stenosis10.3
21blepharophimosis10.3
22conduct disorder10.3
23metabolic syndrome x10.3
24lipid metabolism disorder10.3
25nutritional deficiency disease10.3
26ptosis10.3
27dwarfism10.3
28factor 2 deficiency10.3
29isolated growth hormone deficiency10.3
30psychosocial short stature10.3
31asthma10.2
32asthma 210.2
33asthma 110.2
34bipolar disorder10.2
35craniosynostosis10.2
36morbid obesity10.2
37renal tubular acidosis10.2
38secondary syphilis10.2
39calcium metabolism disease10.2
40metal metabolism disorder10.2
41sleep apnea10.2
42hereditary peripheral nervous disorder10.2
43marchiafava bignami disease10.2
44pseudohypoparathyroidism type 210.2
45bone development disease10.2
46hypopituitarism10.2
47hypothalamic disease10.2
48pituitary gland disease10.2
49genetic brain disorders10.2
50acth-independent macronodular adrenal hyperplasia10.2GNAS, STX16

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:

 51 (show all 33)
  • skull/cranial anomalies
  • round face
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • cafe-au-lait spot
  • decreased body hair/axillar/pubic hairlessness
  • hyperthyroidy
  • precocious puberty
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • joint/articular deformation
  • phosphocalcic metabolism anomalies
  • hyperphosphtemia
  • generalized obesity
  • coarse face
  • scoliosis
  • dry/squaly skin/exfoliation
  • thin skin
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • penis anomalies
  • testis anomalies
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • goiter
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • visual loss/blindness/amblyopia
  • hearing loss/hypoacusia/deafness
  • alopecia
  • abnormal/polycystic ovaries
  • mutiple fractures/bone fragility
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • breast neoplasm/tumor/carcinoma/cancer
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • thyroid neoplasm/tumor/carcinoma/cancer
  • sarcoma

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

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
TheophyllineapprovedPhase 25558-55-92153
Synonyms:
1,3 Dimethylxanthine
1,3-Dimethylxanthine
1,3-dimethyl-7H-purine-2,6-dione
1,3-dimethylxanthine
111079-49-3
1H-purine-2,6-dione
2a3a
46157-00-0
56645-32-0
58-55-9
75448-53-2
AB00052106
AC-20328
AC1L1D1F
AI3-50216
AKOS000120961
Accurbron
Acet-theocin
Aerobin
Aerolate
Aerolate III
Aerolate SR
Afonilm
Afonilum
Afonilum Retard
Aminophylline
Aquaphyllin
Armophylline
Asbron
Asmalix
Asmax
Austyn
BCBcMAP01_000071
BIDD:ER0557
BIDD:GT0151
BPBio1_000791
BPBio1_001041
BSPBio_000719
BSPBio_000945
BSPBio_002363
Bilordyl
Bronchodid Duracap
Bronchoparat
Bronchoretard
Bronkodyl
Bronkodyl SR
Bronkotabs
C07130
C7H8N4O2
CCRIS 4729
CHEBI:28177
CHEMBL190
CID2153
CPD-12479
CPD000058537
Cetraphylline
Choledyl SA
Chronophyllin
Constant T
Constant-T
ConstantT
D00371
D013806
DB00277
Diffumal
Dimethylxanthine
Diphyllin
DivK1c_000203
Doraphyllin
Duraphyl
Duraphyllin
Dyspne-Inhal
EINECS 200-385-7
Egifilin
Elixex
Elixicon
Elixomin
Elixophyllin
Elixophyllin (TN)
Elixophyllin SR
Elixophyllin(e)
Elixophylline
Etheophyl
Euphylline
Euphylong
GS 2591A
HMS1921E03
HMS2089A06
HMS2092M05
HMS500K05
HSDB 3399
Hylate
IDI1_000203
KBio1_000203
KBio2_001518
KBio2_004086
KBio2_006654
KBio3_001583
KBioGR_000785
KBioSS_001518
L000595
LASMA
LS-241
LaBID
Labid
Labophylline
Lanophyllin
Liquophylline
Liquorice
Lopac0_000014
MLS000069390
MLS002152943
MLS002153487
Maphylline
Medaphyllin
MolPort-001-002-058
MolPort-001-737-342
Mudrane
NCGC00018117-01
NCGC00018117-16
NCGC00022112-03
NCGC00022112-04
NCGC00022112-05
NCGC00022112-07
NCGC00022112-08
NCGC00022112-09
NCGC00022112-10
NCGC00022112-11
NCI60_001736
NINDS_000203
NSC 2066
NSC2066
Nuelin
Nuelin S.A
Nuelin S.A.
Nuelin SA
Optiphyllin
PDSP1_001018
PDSP1_001234
PDSP2_001002
PDSP2_001218
Parkophyllin
Physpan
Prestwick0_000820
Prestwick0_000873
Prestwick1_000820
Prestwick1_000873
Prestwick2_000820
Prestwick2_000873
Prestwick3_000820
Prestwick3_000873
Pro-vent
Pseudotheophylline
Pulmidur
Pulmo-Timelets
 
Quibron
Quibron T
Quibron T SR
Quibron T-SR
Quibron T/SR
Quibron TSR
Quibron-T
Quibron-T/SR
Quibron-T/Sr
Quibron-t (TN)
Respbid
Respicur
Respid
S1621_Selleck
SAM002554935
SMP1_000291
SMR000058537
SPBio_000823
SPBio_002640
SPBio_002866
SPECTRUM1500568
ST024762
STK397040
Slo Phyllin
Slo-Bid
Slo-Phyllin
Slo-bid
Slo-phyllin
SloPhyllin
Solosin
Somophyllin CRT
Somophyllin T
Somophyllin-CRT
Somophyllin-Crt
Somophyllin-DF
Somophyllin-T
Somophyllin-t
SomophyllinT
Spectrum2_000842
Spectrum3_000672
Spectrum4_000353
Spectrum5_001232
Spectrum_001038
Spophyllin retard
Sustaire
Synophylate
Synophylate-L.A. Cenules
T-Phyl
T0179
T1633_SIGMA
T4924_SIGMA
T7770_SIGMA
T9031_SIGMA
THEOBID JR
Talotren
Tefamin
Telb-DS
Telbans Dry Syrup
Teocen 200
Teofilina
Teofilina [Polish]
Teofyllamin
Teolair
Teonova
Teosona
Tesona
Theacitin
Theal tabl.
Theal tablets
Theo 24
Theo Dur
Theo-11
Theo-24
Theo-24 (TN)
Theo-DS
Theo-Dur
Theo-Dur-Sprinkle
Theo-Nite
Theo-Organidin
Theo-Sav
Theo-dur
Theo24
Theobid
Theobid Duracap
Theobid Jr.
Theochron
Theocin
Theoclair-SR
Theoclear
Theoclear 80
Theoclear L.A.-130
Theoclear LA
Theoclear-200
Theoclear-80
Theocontin
Theodel
Theodrip
Theodur
Theodur Dry Syrup
Theodur G
Theodur G (TN)
Theofol
Theograd
Theokin
Theolair
Theolair (TN)
Theolair-SR
Theolair-Sr
Theolix
Theolixir
Theona P
Theonite
Theopek
Theophyl
Theophyl-225
Theophyl-SR
Theophyl-Sr
Theophyline
Theophyllin
Theophylline
Theophylline (Anhydrous)
Theophylline (JP15)
Theophylline Anhydrous
Theophylline Extended Release
Theophylline anhydrous
Theophylline(anhydrous)
Theophylline-SR
Theophylline-Sr
Theophylline-[8-3H
Theoplus
Theospan
Theostat
Theostat 80
Theotard
Theovent
UNII-0I55128JYK
UPCMLD-DP123
UPCMLD-DP123:001
Uni-Dur
Unifyl
Unilong
Uniphyl
Uniphyl (TN)
Uniphyllin
Uniphyllin continus
Uniphylline
X 115
Xanthium
Xantivent
ZINC18043251
aminophylline
ct, theo von
nchembio.273-comp2
theo von ct
theophylline
von ct, theo
2
Calcitriolapproved, nutraceutical15832222-06-3134070, 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
3vitamin d1463
4Calcium, Dietary3529

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 Pseudohypoparathyroidism Type Ia22 GNAS
2 Albright's Hereditary Osteodystrophy24
3 Pseudohypoparathyroidism Type 1a24

Anatomical Context for Albright's Hereditary Osteodystrophy

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

33
Bone, Skin, Thyroid, Breast, Ovary, Testis, Eye

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

16
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8APC, GNAS, HDAC4, IGF2
2MP:00053708.6APC, GNAS, GRB10, IGF2
3MP:00053698.0APC, GNAS, GRB10, HDAC4, IGF2
4MP:00053908.0APC, GNAS, H19, HDAC4, IGF2
5MP:00053787.3APC, GNAS, GRB10, H19, 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
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (22679513)
2012
4
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. (22814975)
2012
5
Images in clinical medicine. Albright's hereditary osteodystrophy. (23268667)
2012
6
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. (22277900)
2012
7
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. (19856255)
2010
8
Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. (18626245)
2008
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
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. (17405843)
2007
11
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. (16789632)
2006
12
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. (16789630)
2006
13
Albright's hereditary osteodystrophy. (16514227)
2006
14
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. (16116826)
2005
15
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. (15633718)
2004
16
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. (12656668)
2003
17
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. (12541184)
2002
18
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. (11600516)
2001
19
Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship? (11598374)
2001
20
Visual vignette. Albright's hereditary osteodystrophy(AHO). (11421203)
2000
21
Albright's hereditary osteodystrophy: historical credit. (11428358)
2000
22
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. (9589656)
1998
23
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. (9506735)
1998
24
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. (9788040)
1998
25
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
26
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
27
Albright's hereditary osteodystrophy. (8741028)
1996
28
Albright's hereditary osteodystrophy with hypoparathyroidism. (10999072)
1996
29
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. (7566382)
1995
30
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. (7853365)
1994
31
Albright's hereditary osteodystrophy. (7837255)
1994
32
Cutaneous ossification in Albright's hereditary osteodystrophy. (8453149)
1993
33
Imprinting in Albright's hereditary osteodystrophy. (8383205)
1993
34
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. (1356667)
1992
35
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? (1342872)
1992
36
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. (2109828)
1990
37
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. (2121768)
1990
38
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
39
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. (4025387)
1985
40
Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association. (3983044)
1985
41
Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophy. (225067)
1979
42
Parathyroid hormone deficiency with Albright's hereditary osteodystrophy. (4370248)
1974
43
Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder. (4359274)
1973
44
Albright's hereditary osteodystrophy with cutaneous bone formation. (5002252)
1971
45
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. (5125407)
1971
46
Albright's hereditary osteodystrophy (pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism). (5173177)
1971
47
Albright's hereditary osteodystrophy associated with disc calcification and bilateral dislocation of the hips. (5672549)
1968
48
ALBRIGHT'S HEREDITARY OSTEODYSTROPHY IN A MOTHER AND DAUGHTER. (14336930)
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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Clinvar genetic disease variations for Albright's Hereditary Osteodystrophy:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_001077488.3(GNAS): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs137854530GRCh37Chr 20, 57466782: 57466782
2GNASGNAS, IVS10DS, G-C, +1single nucleotide variantPathogenic
3GNASGNAS, 1-BP DEL, 725CdeletionPathogenic
4GNASGNAS, IVS3AS, A-G, -12single nucleotide variantPathogenic
5GNASNM_001077488.3(GNAS): c.299T> C (p.Leu100Pro)single nucleotide variantPathogenicrs137854531GRCh37Chr 20, 57478624: 57478624
6GNASNM_001077488.3(GNAS): c.496C> T (p.Arg166Cys)single nucleotide variantPathogenicrs137854532GRCh37Chr 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)single nucleotide variantPathogenicrs137854534GRCh37Chr 20, 57484770: 57484770
9GNASGNAS, 38-BP DEL, EX1/IVS1 BOUNDARYdeletionPathogenic
10GNASNM_001077488.3(GNAS): c.695G> A (p.Arg232His)single nucleotide variantPathogenicrs137854538GRCh37Chr 20, 57484608: 57484608
11GNASGNAS, 2-BP DEL, GA, EXON 8deletionPathogenic
12GNASGNAS, 2-BP DEL, CT, EXON 4deletionPathogenic
13GNASGNAS, 1-BP DEL, 348CdeletionPathogenic
14GNASGNAS, 1-BP DEL, C, EXON 1deletionPathogenic
15GNASGNAS, 2-BP DEL, TG, EXON 11deletionPathogenic
16GNASNM_001077488.3(GNAS): c.347C> T (p.Pro116Leu)single nucleotide variantPathogenicrs137854539GRCh37Chr 20, 57478758: 57478758
17GNASGNAS, 1-BP INS, A, EXON 3insertionPathogenic
18GNASGNAS, 12-BP INS, NT1107insertionPathogenic
19GNASGNAS, TYR391TERundetermined variantPathogenic
20GNASNM_000516.5(GNAS): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs797045046GRCh37Chr 20, 57466815: 57466815
21GNASNM_000516.5(GNAS): c.880C> T (p.Gln294Ter)single nucleotide variantLikely pathogenicGRCh38Chr 20, 58909991: 58909991
22GNASNM_001077488.3(GNAS): c.1177G> T (p.Glu393Ter)single nucleotide variantPathogenicrs397514456GRCh37Chr 20, 57485873: 57485873
23GNASNM_001077488.3(GNAS): c.1166T> G (p.Leu389Arg)single nucleotide variantPathogenicrs397514457GRCh37Chr 20, 57485862: 57485862
24GNASNM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys)single nucleotide variantPathogenicrs397514456GRCh37Chr 20, 57485873: 57485873

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 pathways (with members indented)ScoreTop Affiliating Genes
19.6ADCY10, GNAS
29.5HDAC4, 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
1cytosolGO: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
1cAMP biosynthetic processGO:00061719.9ADCY10, GNAS
2negative regulation of Wnt signaling pathwayGO:00301789.6APC, GRB10
3skin developmentGO:00435889.5APC, GNAS
4skeletal system developmentGO:00015018.9GNAS, HDAC4, IGF2

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

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase activityGO:00040169.8ADCY10, GNAS
2insulin receptor bindingGO:00051589.5GRB10, IGF2
3insulin-like growth factor receptor bindingGO:00051599.3GNAS, IGF2

Sources for Albright's Hereditary Osteodystrophy

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