AHO
MCID: ALB001
MIFTS: 71

Albright's Hereditary Osteodystrophy (AHO) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases categories
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Summaries for Albright's Hereditary Osteodystrophy

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NIH Rare Diseases:42 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 and mccune albright syndrome, and has symptoms including skull/cranial anomalies, round face and gynecomastia/breast/mammary gland enlargement/hyperplasia. 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:8 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.

Descriptions from OMIM:46 103580,612462,612463

Aliases & Classifications for Albright's Hereditary Osteodystrophy

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Albright's Hereditary Osteodystrophy, Aliases & Descriptions:

Name: Albright's Hereditary Osteodystrophy 8 42 62
Albright Hereditary Osteodystrophy 8 42 22 48
Pseudohypoparathyroidism Ia 9 20 22 46
Pseudohypoparathyroidism Type 1a 8 42 48
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 42 62
 
Albright Hereditary Osteodystrophy - Php Ia 48
Pseudohypoparathyroidism 62
Aho - Php Ia 48
Php1a 42
Aho 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
albright hereditary osteodystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Normal
pseudohypoparathyroidism type 1a:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0080053
MESH via Orphanet35 C537045
ICD10 via Orphanet26 E20.1
UMLS via Orphanet63 C2931404, C3494506

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/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism30.8GNAS, PTH, APC, ADCY10, STX16
2mccune albright syndrome30.8APC, GNAS
3pseudohypoparathyroidism type 1b30.8STX16, PTH, GNAS
4hypothyroidism30.7GNAS, PTH, ADCY10
5brachydactyly30.4HDAC4, GNAS, PTH, ADCY10
6pseudopseudohypoparathyroidism10.7
7obesity10.6
82q37 microdeletion syndrome10.5
9acrodysostosis10.5GNAS
102q37 deletion syndrome10.5
11congenital hypothyroidism10.4
12thyroiditis10.4
13growth hormone deficiency10.4
14goiter10.3GNAS, PTH
15multinodular goiter10.3GNAS, ADCY10
16osteitis fibrosa10.3PTH, GNAS
17spinal stenosis10.3
18legg-calve-perthes disease10.3
19carpal tunnel syndrome10.3
20blepharophimosis10.3
21progressive osseous heteroplasia10.3
22pseudohypoparathyroidism type 1c10.3
23pseudohypoparathyroidism type 210.3
24mental retardation10.3
25gigantism10.3GNAS, H19
26parathyroid adenoma10.3PTH, GNAS
27wermer syndrome10.3GNAS, PTH
28osteomalacia10.3PTH, GNAS
29leydig cell tumor10.2ADCY10, GNAS
30craniosynostosis10.2
31morbid obesity10.2
32renal tubular acidosis10.2
33short stature10.2
34insulin resistance10.2
35silver-russell syndrome10.2H19, IGF2
36embryonal cancer10.2IGF2, H19
37osteosclerosis10.2IGF2, PTH
38prolactinoma10.2GNAS, ADCY10
39hyperphosphatemia10.2STX16, GNAS, PTH
40hemihypertrophy10.2IGF2, H19
41precocious puberty10.2APC, GNAS
42embryonal rhabdomyosarcoma10.2H19, IGF2
43evans' syndrome10.2
44hyperparathyroidism10.2PTH, ADCY10
45hyperandrogenism10.2IGF2, GNAS
46papillary carcinoma10.2ADCY10, GNAS
47hyperthyroidism10.2GNAS, ADCY10, PTH
48thyroid adenoma10.2GNAS, APC
49gestational trophoblastic neoplasm10.2H19, IGF2
50uremia10.1PTH, ADCY10

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 by clinical synopsis from OMIM:

103580

Clinical features from OMIM:

103580,612462,612463

Symptoms:

48 (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 58)
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
29 autosomal dominant inheritance HP:0000006
30 hypogonadism HP:0000135
31 full cheeks HP:0000293
32 round face HP:0000311
33 short neck HP:0000470
34 cataract HP:0000518
35 nystagmus HP:0000639
36 delayed eruption of teeth HP:0000684
37 hypothyroidism HP:0000821
38 pseudohypoparathyroidism HP:0000852
39 osteoporosis HP:0000939
40 intellectual disability HP:0001249
41 seizures HP:0001250
42 obesity HP:0001513
43 short toe HP:0001831
44 basal ganglia calcification HP:0002135
45 thickened calvaria HP:0002684
46 hyperphosphatemia HP:0002905
47 elevated circulating parathyroid hormone (pth) level HP:0003165
48 low urinary cyclic amp response to pth administration HP:0003456
49 hypocalcemic tetany HP:0003472
50 phenotypic variability HP:0003812
51 short stature HP:0004322
52 depressed nasal bridge HP:0005280
53 hypoplasia of dental enamel HP:0006297
54 choroid plexus calcification HP:0006960
55 short finger HP:0009381
56 short metacarpal HP:0010049
57 short metatarsal HP:0010743
58 cognitive impairment HP:0100543

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

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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

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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

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

32
Bone, Thyroid, Skin, Breast, Eye, Ovary, Testis

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

14
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:

36 (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

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Articles related to Albright's Hereditary Osteodystrophy:

(show top 50)    (show all 59)
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
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
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. (9788040)
1998
24
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
25
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
26
Albright's hereditary osteodystrophy. (8741028)
1996
27
Albright's hereditary osteodystrophy with hypoparathyroidism. (10999072)
1996
28
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. (7566382)
1995
29
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. (7853365)
1994
30
Albright's hereditary osteodystrophy. (7837255)
1994
31
Cutaneous osteoma and Albright's hereditary osteodystrophy]. (7702269)
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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UniProtKB/Swiss-Prot genetic disease variations for Albright's Hereditary Osteodystrophy:

64 (show all 16)
id Symbol AA change Variation ID SNP ID
1GNASp.Leu99ProVAR_003439
2GNASp.Arg165CysVAR_003440
3GNASp.Arg385HisVAR_003444
4GNASp.Arg258TrpVAR_015388
5GNASp.Pro115LeuVAR_017843
6GNASp.Arg231HisVAR_017848
7GNASp.Ser250ArgVAR_017849
8GNASp.Ala366SerVAR_017850
9GNASp.Asp156AsnVAR_031873
10GNASp.Val159MetVAR_031874
11GNASp.Thr242IleVAR_031875
12GNASp.Phe246SerVAR_031876
13GNASp.Glu259ValVAR_031877
14GNASp.Arg280GlyVAR_031878
15GNASp.Arg280LysVAR_031879
16GNASp.Lys338AsnVAR_031881

Clinvar genetic disease variations for Albright's Hereditary Osteodystrophy:

6 (show all 25)
id Gene Name 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, 348CdeletionPathogenic
17GNASGNAS, 1-BP DEL, C, EXON 1deletionPathogenic
18GNASGNAS, 2-BP DEL, TG, EXON 11deletionPathogenic
19GNASNM_001077488.2(GNAS): c.347C> T (p.Pro116Leu)single nucleotide variantPathogenicrs137854539GRCh37Chr 20, 57478758: 57478758
20GNASGNAS, 1-BP INS, A, EXON 3insertionPathogenic
21GNASGNAS, 12-BP INS, NT1107insertionPathogenic
22GNASGNAS, TYR391TERundetermined variantPathogenic
23GNASNM_001077488.2(GNAS): c.1177G> T (p.Glu393Ter)single nucleotide variantPathogenicrs397514456GRCh37Chr 20, 57485873: 57485873
24GNASNM_001077488.2(GNAS): c.1166T> G (p.Leu389Arg)single nucleotide variantPathogenicrs397514457GRCh37Chr 20, 57485862: 57485862
25GNASNM_001077488.2(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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Expression patterns in normal tissues for genes affiliated with Albright's Hereditary Osteodystrophy

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/GeneDecks:

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

Compounds for genes affiliated with Albright's Hereditary Osteodystrophy

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Compounds related to Albright's Hereditary Osteodystrophy according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1iloprost61 28 44 1113.1ADCY10, GNAS
2pphp449.9APC, GNAS
3nap-2449.9H19, IGF2
4apai449.9H19, IGF2
5rsai449.8IGF2, H19
6bromocriptine44 28 1111.8IGF2, ADCY10
7salbutamol44 50 28 24 1113.7APC, ADCY10
8dehydroepiandrosterone sulfate449.7PTH, IGF2
9octreotide44 61 28 1112.7ADCY10, GNAS, IGF2
10pertussis449.7APC, ADCY10
11sodium bisulfite449.7APC, IGF2
12guanosine44 24 1111.6APC, GNAS
13ibmx44 61 2811.5IGF2, PTH, ADCY10
14prostacyclin449.3IGF2, APC, ADCY10
15gtp44 2810.2GNAS, APC, ADCY10
16indomethacin44 28 61 1112.2IGF2, APC, ADCY10
175-aza-2deoxycytidine449.2H19, APC, IGF2
18vitamin d449.2APC, PTH, IGF2
19arginine449.2ADCY10, PTH, GNAS, IGF2
20isoproterenol44 1110.2ADCY10, APC, PTH, GNAS
21ribonucleic acid449.2IGF2, GNAS, PTH, H19
22thymidine44 2410.1IGF2, GNAS, PTH, H19
23cyclic amp44 2410.1ADCY10, APC, PTH, GNAS
24guanine44 24 1111.1IGF2, GNAS, APC, ADCY10
25norepinephrine44 24 1111.0IGF2, GNAS, APC, ADCY10
26paraffin449.0H19, APC, IGF2
27acth449.0H19, APC, GNAS, IGF2
28glutamine448.9IGF2, GNAS, APC
29cycloheximide448.9IGF2, PTH, APC, ADCY10
30dopamine44 28 24 1111.9ADCY10, APC, GNAS
31glucose448.8APC, PTH, GNAS, IGF2
32glutamate448.7ADCY10, GNAS, IGF2, HDAC4
33forskolin44 50 1110.7ADCY10, APC, PTH, GNAS, IGF2
34pge2448.7IGF2, GNAS, PTH, APC, ADCY10
35adenylate448.7IGF2, GNAS, PTH, APC, ADCY10
36tyrosine448.0IGF2, GNAS, PTH, APC, H19, GRB10
37calcium44 50 24 1110.9ADCY10, APC, PTH, GNAS, HDAC4

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.5GRB10, STX16, ADCY10, APC, GNAS, HDAC4

Biological processes related to Albright's Hereditary Osteodystrophy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:0711079.9PTH, GNAS
2cAMP biosynthetic processGO:0061719.9ADCY10, GNAS
3positive regulation of cAMP biosynthetic processGO:0308199.7PTH, GNAS
4positive regulation of glycogen biosynthetic processGO:0457259.5PTH, IGF2
5adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.5PTH, GNAS
6positive regulation of cell divisionGO:0517819.3APC, IGF2
7skeletal system developmentGO:0015018.8HDAC4, IGF2, PTH
8response to drugGO:0424938.6PTH, GNAS, IGF2, HDAC4

Molecular functions related to Albright's Hereditary Osteodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase activityGO:0040169.5ADCY10, GNAS
2insulin receptor bindingGO:0051589.4GRB10, IGF2

Products for genes affiliated with Albright's Hereditary Osteodystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Albright's Hereditary Osteodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet