MCID: ALB001
MIFTS: 47

Albright's Hereditary Osteodystrophy malady

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

Aliases & Classifications for Albright's Hereditary Osteodystrophy

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

Aliases & Descriptions for Albright's Hereditary Osteodystrophy:

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

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

Classifications:



External Ids:

Disease Ontology10 DOID:0080053
Orphanet51 665, 79443
UMLS via Orphanet66 C2931404, C3494506
ICD10 via Orphanet28 E20.1
MESH via Orphanet37 C537045
UMLS65 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 albright hereditary osteodystrophy, is related to pseudohypoparathyroidism ic and pseudohypoparathyroidism ia, 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 is Endothelin. Affiliated tissues include h, foot and bone, and related mouse phenotype muscle.

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 all 41)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism ic31.0APC, GNAS
2pseudohypoparathyroidism ia12.1
3pseudopseudohypoparathyroidism12.1
4chromosome 2q37 deletion syndrome12.0
52q37 microdeletion syndrome11.9
62q37 deletion syndrome11.8
7pseudohypoparathyroidism, type ib10.8
8osseous heteroplasia, progressive10.6
9acth-independent macronodular adrenal hyperplasia10.2GNAS, STX16
10breast cancer10.2
11aspergillosis10.2
12cone-rod dystrophy10.2
13rabson-mendenhall syndrome10.2
14leukemia10.2
15lymphoma10.2
16lymphoblastic leukemia10.2
17amblyopia10.2
18protein-losing enteropathy10.2
19urticaria10.2
20neuroma10.2
21antiphospholipid syndrome10.2
22retinitis10.2
23gastritis10.2
24peptic ulcer disease10.2
25neuronitis10.2
26brachial plexus lesion10.2
27postural hypotension10.2
28endotheliitis10.2
29mucous membrane pemphigoid10.2
30congenital nervous system abnormality10.2GNAS, STX16
31epileptic encephalopathy, early infantile, 2610.2GNAS, STX16
32tonsillar fossa cancer10.1GNAS, STX16
33antley-bixler syndrome10.1GNAS, STX16
34reproductive system disease10.0ADCY10, GNAS
35ehlers-danlos syndrome, type iii9.9APC, HDAC4
36gummatous syphilis9.8GNAS, HDAC4
37organ system benign neoplasm9.8APC, GNAS
38aromatic l-amino acid decarboxylase deficiency9.8GRB10, H19
39spinal cord neuroblastoma9.6APC, H19
40articulation disorder9.4ADCY10, APC, GNAS, STX16
41charcot-marie-tooth disease type 58.4ADCY10, 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:

 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):

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 2, Phase 310002
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
3HormonesPhase 2, Phase 311748
4
TheophyllineapprovedPhase 25658-55-92153
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
5Purinergic P1 Receptor AntagonistsPhase 2262
6Vasodilator AgentsPhase 22926
7Phosphodiesterase InhibitorsPhase 21062
8Respiratory System AgentsPhase 23931
9Anti-Asthmatic AgentsPhase 22796
10Bronchodilator AgentsPhase 22377
11Neurotransmitter AgentsPhase 214795
12Peripheral Nervous System AgentsPhase 218510
13
Calcitriolapproved, nutraceutical16132222-06-3134070, 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
14vitamin d1524
15Vitamins3857
16Trace Elements3900
17Micronutrients3901
18Calcium, Dietary4678
19Bone Density Conservation Agents2600

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

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:00053698.3APC, GNAS, GRB10, HDAC4

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
Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome. (25899236)
2015
2
Increased expression of miR-24 is associated with acute myeloid leukemia with t(8;21). (25550847)
2014
3
Allogenic hematopoietic stem cell transplantation in patients with polycythemia or essential thrombocythemia transformed to myelofibrosis or acute myeloid leukemia: report from the MPN subcommittee of the Chronic Malignancies Working Party of the European Group for Blood and Marrow Transplantation. (24389309)
2014
4
Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature. (24963453)
2014
5
First description of lung abscess caused by ST23 clone capsule genotype K1 Klebsiella pneumoniae. (24055339)
2013
6
Should we manage all cases of granulomatous mastitis conservatively? A 14 year experience. (23458219)
2013
7
Mycotic pseudoaneurysm of the aortic arch with purulent pericardial effusion. (22450083)
2012
8
Identification of a susceptibility locus in STAT4 for BehAset's disease in Han Chinese in a genome-wide association study. (23001997)
2012
9
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. (23284291)
2012
10
Postpartum depression and correlated factors in women who received in vitro fertilization treatment. (21733105)
2011
11
Mixed hepatoblastoma in a young male adult: a case report and literature review. (21113306)
2010
12
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. (20057503)
2010
13
Gout, hyperuricemia, and the risk of cardiovascular disease: cause and effect? (20425020)
2010
14
A combined vaccine against Brucella abortus and infectious bovine rhinotracheitis. (23100765)
2009
15
Localization of disease-related PrP in Danish patients with different subtypes of prion disease. (19788047)
2009
16
The effects of ADF/cofilin and profilin on the conformation of the ATP-binding cleft of monomeric actin. (19289059)
2009
17
Is the variability of nickel patch test reactivity over time associated with fluctuations in the systemic T-cell reactivity to nickel? (19438434)
2009
18
Acute and chronic heroin dependence in mice: contribution of opioid and excitatory amino acid receptors. (18343363)
2008
19
The effect of losartan on hemoglobin concentration and renal outcome in diabetic nephropathy of type 2 diabetes. (18094675)
2008
20
CD127 and CD25 expression defines CD4+ T cell subsets that are differentially depleted during HIV infection. (18390743)
2008
21
Characterization of ATP-gated P2X7 receptors in fish provides new insights into the mechanism of release of the leaderless cytokine interleukin-1 beta. (16837047)
2007
22
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. (16980675)
2006
23
Rheumatic fever--how relevant in India today? (16909716)
2006
24
Cloning, expression, and purification of a highly immunogenic recombinant gonadotropin-releasing hormone (GnRH) chimeric peptide. (17064933)
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Effect of extract of ginkgo bilboa leaf on early diabetic nephropathy]. (16313110)
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Congenital nodular multiple glomangioma: a case report. (15623496)
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Two conserved cysteine triads in human Ero1alpha cooperate forefficient disulfide bond formation in the ER. (15136577)
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Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. (12578939)
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FV HR2 haplotype as additional inherited risk factor for deep vein thrombosis in individuals with a high-risk profile. (11848454)
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Specificity of arachidonic acid-induced inhibition of growth and activation of c-jun kinases and p38 mitogen-activated protein kinase in hematopoietic cells. (12051955)
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Disorders of mineralocorticoid synthesis. (11469810)
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Requirements for in vivo IFN-gamma induction by live microfilariae of the parasitic nematode, Brugia malayi. (10874726)
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Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. (10730274)
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Synaptic vesicles form by budding from tubular extensions of sorting endosomes in PC12 cells. (10588650)
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Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus. (9786908)
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Rheumatic fever. (10772000)
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A G protein beta gamma dimer-mediated pathway contributes to mitogen-activated protein kinase activation by thyrotropin-releasing hormone receptors in transfected COS-7 cells. (9547350)
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Panic disorder and agoraphobia in consecutively referred children and adolescents. (9031574)
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Carcinoma in situ arising in a gastric hamartomatous polyp in a patient with Peutz-Jeghers syndrome. (8739752)
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Fulminating systemic capillary leak syndrome with lymphocytosis and hypogammaglobulinemia. (8570875)
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Rabbit very low density lipoprotein receptor: a low density lipoprotein receptor-like protein with distinct ligand specificity. (1384047)
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Weaver syndrome. (1583661)
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Copper as a cofactor and regulator of copper,zinc superoxide dismutase. (1542024)
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On the molecular interactions between fibrin, tissue-type plasminogen activator and plasminogen. (2107598)
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Combined treatment of anaplastic astrocytoma (grade 3-4) with diacetyl-dianhydro-galactitol (DADAG). (2319295)
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Parietal foramina in Saethre-Chotzen syndrome. (6502651)
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Hemoglobin Koelliker (alpha 2 minus 141 arg beta 2) in favism. (6805217)
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Evolution of endomyocardial fibrosis. (4159864)
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Use of systemically administered penicillin as a prophylactic against ophthalmia neonatorum. (14777171)
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Epidemiological Notes on Meningococcal Meningitis in the Army. (18015931)
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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

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

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

idNameGO IDScoreTop Affiliating Genes
1cAMP biosynthetic processGO:00061719.8ADCY10, GNAS
2negative regulation of Wnt signaling pathwayGO:00301789.1APC, GRB10

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