MCID: ALB001
MIFTS: 59

Albright's Hereditary Osteodystrophy malady

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

Summaries for Albright's Hereditary Osteodystrophy

About this section


NIH Rare Diseases:41 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 and pseudohypoparathyroidism, type ib, 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 Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds iloprost and pphp have been mentioned in the context of this disorder. Affiliated tissues include h, foot and bone, and related mouse phenotypes are limbs/digits/tail and no phenotypic analysis.

Disease Ontology:9 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.

Aliases & Classifications for Albright's Hereditary Osteodystrophy

About this section
Sources:
60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 22GTR, 20GeneTests, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Albright's Hereditary Osteodystrophy, Aliases & Descriptions:

Name: Albright's Hereditary Osteodystrophy 9 41 60
Pseudohypoparathyroidism Type 1a 9 41 20 47 22
Albright Hereditary Osteodystrophy 9 41 47 22
Albright Hereditary Osteodystrophy - Php Ia 41 47
Aho - Php Ia 41 47
 
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 41
Pseudohypoparathyroidism, Type Ia 60
Pseudohypoparathyroidism 60
Php1a 41
Aho 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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 Ontology9 DOID:0080053
Orphanet47 665, 79443
MESH via Orphanet34 C537045
ICD10 via Orphanet26 E20.1
UMLS via Orphanet61 C2931404, C3494506

Related Diseases for Albright's Hereditary Osteodystrophy

About this section

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism30.8STX16, ADCY10, APC, PTH, GNAS
2pseudohypoparathyroidism, type ib30.8GNAS, PTH, STX16
3hypothyroidism30.7ADCY10, PTH, GNAS
4brachydactyly30.4HDAC4, GNAS, PTH, ADCY10
5pseudopseudohypoparathyroidism10.7
6obesity10.6
72q37 microdeletion syndrome10.5
82q37 deletion syndrome10.5
9acrodysostosis10.5GNAS
10congenital hypothyroidism10.4
11thyroiditis10.4
12growth hormone deficiency10.4
13goiter10.3PTH, GNAS
14multinodular goiter10.3ADCY10, GNAS
15legg-calve-perthes disease10.3
16osseous heteroplasia, progressive10.3
17pseudohypoparathyroidism ia10.3
18pseudohypoparathyroidism ic10.3
19spinal stenosis10.3
20blepharophimosis10.3
21ptosis10.3
22mental retardation10.3
23osteitis fibrosa10.3PTH, GNAS
24gigantism10.3H19, GNAS
25parathyroid adenoma10.3PTH, GNAS
26multiple endocrine neoplasia 110.3GNAS, PTH
27osteomalacia10.2GNAS, PTH
28leydig cell tumor10.2ADCY10, GNAS
29craniosynostosis10.2
30morbid obesity10.2
31renal tubular acidosis10.2
32mccune-albright syndrome, somatic, mosaic10.2APC, GNAS
33silver-russell syndrome10.2H19, IGF2
34embryonal cancer10.2IGF2, H19
35hyperostosis, endosteal10.2IGF2, PTH
36prolactinoma10.2ADCY10, GNAS
37hyperphosphatemia10.2STX16, PTH, GNAS
38hemi 3 syndrome10.2IGF2, H19
39precocious puberty10.2GNAS, APC
40embryonal rhabdomyosarcoma10.2IGF2, H19
41hyperparathyroidism10.2ADCY10, PTH
42hyperandrogenism10.2IGF2, GNAS
43papillary carcinoma10.2ADCY10, GNAS
44hyperthyroidism10.2GNAS, PTH, ADCY10
45thyroid adenoma10.1APC, GNAS
46gestational trophoblastic neoplasm10.1H19, IGF2
47uremia10.1PTH, ADCY10
48pheochromocytoma10.1H19, ADCY10, GNAS
49fibrous dysplasia10.1GNAS, APC, ADCY10
50hypercalcemia10.1ADCY10, PTH

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

About this section

Symptoms:

 47 (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 28)
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 obesity hallmark (90%) HP:0001513
7 skeletal dysplasia hallmark (90%) HP:0002652
8 hyperphosphatemia hallmark (90%) HP:0002905
9 abnormality of calcium-phosphate metabolism hallmark (90%) HP:0100530
10 abnormality of the penis typical (50%) HP:0000036
11 abnormality of the menstrual cycle typical (50%) HP:0000140
12 coarse facial features typical (50%) HP:0000280
13 goiter typical (50%) HP:0000853
14 dry skin typical (50%) HP:0000958
15 thin skin typical (50%) HP:0000963
16 scoliosis typical (50%) HP:0002650
17 cognitive impairment typical (50%) HP:0100543
18 polycystic ovaries occasional (7.5%) HP:0000147
19 hearing impairment occasional (7.5%) HP:0000365
20 visual impairment occasional (7.5%) HP:0000505
21 alopecia occasional (7.5%) HP:0001596
22 recurrent fractures occasional (7.5%) HP:0002757
23 abnormality of the hip bone occasional (7.5%) HP:0003272
24 craniofacial hyperostosis occasional (7.5%) HP:0004493
25 testicular neoplasm occasional (7.5%) HP:0010788
26 neoplasm of the breast occasional (7.5%) HP:0100013
27 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
28 sarcoma occasional (7.5%) HP:0100242

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Albright's Hereditary Osteodystrophy

Search NIH Clinical Center for Albright's Hereditary Osteodystrophy

Genetic Tests for Albright's Hereditary Osteodystrophy

About this section

Genetic tests related to Albright's Hereditary Osteodystrophy:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type Ia20 GNAS
2 Albright's Hereditary Osteodystrophy22
3 Pseudohypoparathyroidism Type 1a22

Anatomical Context for Albright's Hereditary Osteodystrophy

About this section

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

31
Bone, Skin, Thyroid, Breast, Ovary, Eye, Testis

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

14
H, Foot

Animal Models for Albright's Hereditary Osteodystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7APC, PTH, GNAS, IGF2
2MP:00030128.6H19, APC, GNAS, IGF2
3MP:00053798.2IGF2, GNAS, PTH, APC, GRB10
4MP:00053708.2IGF2, GNAS, APC, GRB10
5MP:00053858.1IGF2, GNAS, PTH, APC, ADCY10
6MP:00053828.0HDAC4, IGF2, GNAS, PTH, APC
7MP:00053697.9HDAC4, IGF2, GNAS, APC, GRB10
8MP:00053767.7IGF2, GNAS, PTH, APC, ADCY10, GRB10
9MP:00053907.6H19, APC, PTH, GNAS, IGF2, HDAC4
10MP:00053787.0HDAC4, IGF2, GNAS, PTH, APC, H19
11MP:00107687.0HDAC4, IGF2, GNAS, PTH, APC, H19

Publications for Albright's Hereditary Osteodystrophy

About this section

Articles related to Albright's Hereditary Osteodystrophy:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. (23814007)
2013
2
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (22679513)
2012
3
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. (22814975)
2012
4
Images in clinical medicine. Albright's hereditary osteodystrophy. (23268667)
2012
5
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. (22277900)
2012
6
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. (19856255)
2010
7
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
8
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
9
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. (17405843)
2007
10
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. (16789632)
2006
11
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. (16789630)
2006
12
Albright's hereditary osteodystrophy. (16514227)
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
Albright's hereditary osteodystrophy: historical credit. (11428358)
2000
20
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. (9589656)
1998
21
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. (9506735)
1998
22
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. (9788040)
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
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
25
Albright's hereditary osteodystrophy. (8741028)
1996
26
Albright's hereditary osteodystrophy with hypoparathyroidism. (10999072)
1996
27
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. (7566382)
1995
28
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. (7853365)
1994
29
Albright's hereditary osteodystrophy. (7837255)
1994
30
Cutaneous osteoma and Albright's hereditary osteodystrophy]. (7702269)
1994
31
Cutaneous ossification in Albright's hereditary osteodystrophy. (8453149)
1993
32
Imprinting in Albright's hereditary osteodystrophy. (8383205)
1993
33
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. (1356667)
1992
34
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? (1342872)
1992
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
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

About this section

Clinvar genetic disease variations for Albright's Hereditary Osteodystrophy:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_001077488.2(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_001077488.2(GNAS): c.299T> C (p.Leu100Pro)single nucleotide variantPathogenicrs137854531GRCh37Chr 20, 57478624: 57478624
6GNASNM_001077488.2(GNAS): c.496C> T (p.Arg166Cys)single nucleotide variantPathogenicrs137854532GRCh37Chr 20, 57480498: 57480498
7GNASNM_000516.4(GNAS): c.565_568delGACT (p.Asp189Metfs)deletionPathogenicGRCh37Chr 20, 57484251: 57484254
8GNASNM_001077488.2(GNAS): c.753C> G (p.Ser251Arg)single nucleotide variantPathogenicrs137854534GRCh37Chr 20, 57484770: 57484770
9GNASGNAS, 38-BP DEL, EX1/IVS1 BOUNDARYdeletionPathogenic
10GNASNM_001077488.2(GNAS): c.775C> T (p.Arg259Trp)single nucleotide variantPathogenicrs137854535GRCh37Chr 20, 57484792: 57484792
11GNASNM_001077488.2(GNAS): c.775_776delCGinsGC (p.Arg259Ala)indelPathogenicrs137854536GRCh37Chr 20, 57484792: 57484793
12GNASGNAS, GLN170ALAundetermined variantPathogenic
13GNASNM_001077488.2(GNAS): c.695G> A (p.Arg232His)single nucleotide variantPathogenicrs137854538GRCh37Chr 20, 57484608: 57484608
14GNASGNAS, 2-BP DEL, GA, EXON 8deletionPathogenic
15GNASGNAS, 2-BP DEL, CT, EXON 4deletionPathogenic
16GNASGNAS, 1-BP DEL, C, EXON 1deletionPathogenic
17GNASGNAS, 2-BP DEL, TG, EXON 11deletionPathogenic
18GNASNM_001077488.2(GNAS): c.347C> T (p.Pro116Leu)single nucleotide variantPathogenicrs137854539GRCh37Chr 20, 57478758: 57478758
19GNASGNAS, 1-BP INS, A, EXON 3insertionPathogenic
20GNASGNAS, 12-BP INS, NT1107insertionPathogenic
21GNASGNAS, TYR391TERundetermined variantPathogenic
22GNASNM_001077488.2(GNAS): c.1177G> T (p.Glu393Ter)single nucleotide variantPathogenicrs397514456GRCh37Chr 20, 57485873: 57485873
23GNASNM_001077488.2(GNAS): c.1166T> G (p.Leu389Arg)single nucleotide variantPathogenicrs397514457GRCh37Chr 20, 57485862: 57485862
24GNASNM_001077488.2(GNAS): c.1177G> A (p.Glu393Lys)single nucleotide variantPathogenicrs397514456GRCh37Chr 20, 57485873: 57485873

Expression for genes affiliated with Albright's Hereditary Osteodystrophy

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

Pathways for genes affiliated with Albright's Hereditary Osteodystrophy

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ADCY10, GNAS
29.8GNAS, PTH
38.7IGF2, PTH, HDAC4
4
Show member pathways
7.3HDAC4, IGF2, GNAS, PTH, APC, GRB10

Compounds for genes affiliated with Albright's Hereditary Osteodystrophy

About this section

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

(show all 37)
idCompoundScoreTop Affiliating Genes
1iloprost59 28 43 1213.1ADCY10, GNAS
2pphp439.9APC, GNAS
3nap-2439.9H19, IGF2
4apai439.9H19, IGF2
5rsai439.8IGF2, H19
6bromocriptine43 28 1211.8IGF2, ADCY10
7salbutamol43 49 28 24 1213.7APC, ADCY10
8dehydroepiandrosterone sulfate439.7PTH, IGF2
9octreotide43 59 28 1212.7ADCY10, GNAS, IGF2
10pertussis439.7APC, ADCY10
11sodium bisulfite439.7APC, IGF2
12guanosine43 24 1211.6APC, GNAS
13ibmx43 59 2811.5IGF2, PTH, ADCY10
14prostacyclin439.3IGF2, APC, ADCY10
15gtp43 2810.2GNAS, APC, ADCY10
16indomethacin43 28 59 1212.2IGF2, APC, ADCY10
175-aza-2deoxycytidine439.2H19, APC, IGF2
18vitamin d439.2APC, PTH, IGF2
19arginine439.2ADCY10, PTH, GNAS, IGF2
20isoproterenol43 1210.2ADCY10, APC, PTH, GNAS
21ribonucleic acid439.2IGF2, GNAS, PTH, H19
22thymidine43 2410.1IGF2, GNAS, PTH, H19
23cyclic amp43 2410.1ADCY10, APC, PTH, GNAS
24guanine43 24 1211.1IGF2, GNAS, APC, ADCY10
25norepinephrine43 24 1211.0IGF2, GNAS, APC, ADCY10
26paraffin439.0H19, APC, IGF2
27acth439.0H19, APC, GNAS, IGF2
28glutamine438.9IGF2, GNAS, APC
29cycloheximide438.9IGF2, PTH, APC, ADCY10
30dopamine43 28 24 1211.9ADCY10, APC, GNAS
31glucose438.8APC, PTH, GNAS, IGF2
32glutamate438.7ADCY10, GNAS, IGF2, HDAC4
33forskolin43 49 1210.7ADCY10, APC, PTH, GNAS, IGF2
34pge2438.7IGF2, GNAS, PTH, APC, ADCY10
35adenylate438.7IGF2, GNAS, PTH, APC, ADCY10
36tyrosine438.0IGF2, GNAS, PTH, APC, H19, GRB10
37calcium43 49 24 1210.9ADCY10, APC, PTH, GNAS, HDAC4

GO Terms for genes affiliated with Albright's Hereditary Osteodystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057377.5GRB10, STX16, ADCY10, APC, GNAS, HDAC4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:00711079.9PTH, GNAS
2cAMP biosynthetic processGO:00061719.9ADCY10, GNAS
3positive regulation of cAMP biosynthetic processGO:00308199.7PTH, GNAS
4positive regulation of glycogen biosynthetic processGO:00457259.5PTH, IGF2
5adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.5PTH, GNAS
6positive regulation of cell divisionGO:00517819.3APC, IGF2
7skeletal system developmentGO:00015018.8HDAC4, IGF2, PTH
8response to drugGO:00424938.6PTH, GNAS, IGF2, HDAC4

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

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase activityGO:00040169.5ADCY10, GNAS
2insulin receptor bindingGO:00051589.4GRB10, IGF2

Products for genes affiliated with Albright's Hereditary Osteodystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Albright's Hereditary Osteodystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet