AHO
MCID: ALB001
MIFTS: 74

Albright's Hereditary Osteodystrophy (AHO) malady

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

Summaries for Albright's Hereditary Osteodystrophy

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Albright's Hereditary Osteodystrophy, also known as pseudohypoparathyroidism ia, is related to pseudohypoparathyroidism and hypoparathyroidism, and has symptoms including mutiple fractures/bone fragility, abnormal/polycystic ovaries and alopecia. An important gene associated with Albright's Hereditary Osteodystrophy is GNAS (GNAS complex locus), and among its related pathways are Endothelin and Endochondral Ossification. The compounds forskolin and pphp have been mentioned in the context of this disorder. Affiliated tissues include h, foot and bone, and related mouse phenotypes are endocrine/exocrine gland and muscle.

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.

Description from OMIM:46 103580,612462,612463

Aliases & Classifications for Albright's Hereditary Osteodystrophy

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8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 48Orphanet, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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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


Aliases & Descriptions:

albright's hereditary osteodystrophy 8 42 60
pseudohypoparathyroidism ia 9 20 22 46
albright hereditary osteodystrophy 42 22 48
pseudohypoparathyroidism type 1a 8 42 48
albright hereditary osteodystrophy with multiple hormone resistance 42
albright hereditary osteodystrophy - php ia 48
pseudohypoparathyroidism 60
aho - php ia 48
php1a 42
aho 42


External Ids:

Disease Ontology8 DOID:0080053
UMLS via Orphanet61 C2931404
MESH via Orphanet35 C537045
ICD10 via Orphanet26 E20.1, Q78.1
SNOMED-CT via Orphanet57 58833000

Related Diseases for Albright's Hereditary Osteodystrophy

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17GeneCards, 18GeneDecks
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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 119)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism31.3GNAS, APC, STX16, PTH, ADCY10
2hypoparathyroidism30.9PTH
3obesity30.7ADCY10, GNAS
4brachydactyly30.6ADCY10, PTH, HDAC4, GNAS
5hypothyroidism30.5GNAS, PTH, ADCY10
6hyperparathyroidism30.5ADCY10, PTH
7mccune albright syndrome30.3GNAS
8acrodysostosis30.2GNAS
9osteitis fibrosa30.2PTH, GNAS
10pseudohypoparathyroidism type 1b30.2GNAS, STX16, PTH
11hypertension30.1PTH
12diabetes mellitus29.7PTH
13osteosclerosis29.7PTH, IGF2
14hyperthyroidism29.7GNAS, PTH, ADCY10
152q37 microdeletion syndrome10.5
16pseudopseudohypoparathyroidism10.4
172q37 deletion syndrome10.4
18congenital hypothyroidism10.3
19thyroiditis10.3
20rickets10.3
21carpal tunnel syndrome10.2
22spinal stenosis10.2
23blepharophimosis10.2
24legg-calve-perthes disease10.2
25calcinosis10.2
26morbid obesity10.2
27renal tubular acidosis10.2
28craniosynostosis10.2
29pseudohypoparathyroidism type 1c10.2
30cerebritis10.2
31progressive osseous heteroplasia10.1
32evans' syndrome10.1
33renal osteodystrophy10.0
34primary hyperparathyroidism10.0
35hyperostosis10.0
36retinitis10.0
37pseudohypoparathyroidism type 210.0
38multiple endocrine neoplasia10.0GNAS
39melanoma10.0GRB10
40leydig cell tumor10.0ADCY10, GNAS
41parathyroid adenoma10.0PTH, GNAS
42gigantism10.0GNAS, H19
43goiter10.0PTH, GNAS
44polycystic ovary syndrome10.0IGF2
45growth hormone deficiency10.0IGF2
46thyroid adenoma10.0APC, GNAS
47growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGF2
48hyperphosphatemia10.0PTH, STX16, GNAS
49wermer syndrome10.0PTH, GNAS
50precocious puberty10.0GNAS, APC

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



Diseases related to albright's hereditary osteodystrophy

Clinical Features for Albright's Hereditary Osteodystrophy

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46OMIM, 48Orphanet
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Clinical features from OMIM:

103580,612462,612463

Clinical synopsis from OMIM:

103580

Symptoms:

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

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Albright's Hereditary Osteodystrophy

Drug clinical trials:

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Search NIH Clinical Center for Albright's Hereditary Osteodystrophy

Search CenterWatch for Albright's Hereditary Osteodystrophy

Genetic Tests for Albright's Hereditary Osteodystrophy

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20GeneTests, 22GTR
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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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32MalaCards, 14FMA
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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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36MGI
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MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.2H19
2MP:00053699.3H19, APC, IGF2
3MP:00053718.6GNAS, H19, APC, IGF2, PTH
4MP:00053708.3GNAS, H19, APC, GRB10, IGF2
5MP:00030128.3ETV2, IGF2, APC, H19, GNAS
6MP:00053828.1PTH, IGF2, HDAC4, APC, H19, GNAS
7MP:00053907.9GNAS, H19, APC, HDAC4, IGF2, PTH
8MP:00053857.8GNAS, H19, APC, IGF2, ETV2, PTH
9MP:00053787.1GNAS, H19, APC, HDAC4, GRB10, IGF2
10MP:00107686.7GNAS, H19, APC, HDAC4, GRB10, IGF2

Publications for Albright's Hereditary Osteodystrophy

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50PubMed
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Articles related to Albright's Hereditary Osteodystrophy:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. (22679513)
2012
2
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. (22814975)
2012
3
Images in clinical medicine. Albright's hereditary osteodystrophy. (23268667)
2012
4
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. (22277900)
2012
5
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. (19856255)
2010
6
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
7
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. (17405843)
2007
8
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. (16789632)
2006
9
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. (16789630)
2006
10
Albright's hereditary osteodystrophy. (16514227)
2006
11
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. (16116826)
2005
12
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. (15633718)
2004
13
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. (12656668)
2003
14
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. (12541184)
2002
15
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. (11600516)
2001
16
Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship? (11598374)
2001
17
Visual vignette. Albright's hereditary osteodystrophy(AHO). (11421203)
2000
18
Albright's hereditary osteodystrophy: historical credit. (11428358)
2000
19
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. (9589656)
1998
20
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. (9506735)
1998
21
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. (9788040)
1998
22
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
23
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
24
Albright's hereditary osteodystrophy with hypoparathyroidism. (10999072)
1996
25
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. (7566382)
1995
26
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. (7853365)
1994
27
Albright's hereditary osteodystrophy. (7837255)
1994
28
Cutaneous osteoma and Albright's hereditary osteodystrophy]. (7702269)
1994
29
Imprinting in Albright's hereditary osteodystrophy. (8383205)
1993
30
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? (1342872)
1992
31
Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion. (1678415)
1991
32
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. (2109828)
1990
33
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. (2121768)
1990
34
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
35
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. (4025387)
1985
36
Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association. (3983044)
1985
37
Albright's hereditary osteodystrophy: a review. (6278930)
1982
38
Albright's hereditary osteodystrophy. (6246707)
1980
39
Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophy. (225067)
1979
40
Parathyroid hormone deficiency with Albright's hereditary osteodystrophy. (4370248)
1974
41
Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder. (4359274)
1973
42
Albright's hereditary osteodystrophy with cutaneous bone formation. (5002252)
1971
43
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. (5125407)
1971
44
Albright's hereditary osteodystrophy (pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism). (5173177)
1971
45
Osteoma cutis and Albright's hereditary osteodystrophy. (5002319)
1971
46
Albright's hereditary osteodystrophy associated with disc calcification and bilateral dislocation of the hips. (5672549)
1968
47
Albright's hereditary osteodystrophy. Report of a family with studies of bone remodeling. (5933794)
1966
48
ALBRIGHT'S HEREDITARY OSTEODYSTROPHY IN A MOTHER AND DAUGHTER. (14336930)
1965
49
ALBRIGHT'S HEREDITARY OSTEODYSTROPHY. THE EFFECT OF TREATMENT DURING ADOLESCENCE. (14305962)
1965
50
PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY. (14117275)
1964

Genetic Variations for Albright's Hereditary Osteodystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Albright's Hereditary Osteodystrophy:

62 (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

Expression for genes affiliated with Albright's Hereditary Osteodystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 53Reactome
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Pathways related to Albright's Hereditary Osteodystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ADCY10, GNAS
29.0PTH, IGF2, HDAC4
3
Hide members
7.9GNAS, APC, HDAC4, GRB10, IGF2, PTH

Compounds for genes affiliated with Albright's Hereditary Osteodystrophy

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Albright's Hereditary Osteodystrophy according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.5PTH
2pphp4410.1APC, GNAS
3nap-2449.9IGF2, H19
4apai449.8IGF2, H19
5sodium bisulfite449.7IGF2, APC
6octreotide44 59 28 1112.6ADCY10, IGF2, GNAS
7rsai449.6IGF2, H19
8ibmx44 28 5911.5ADCY10, PTH, IGF2
9isoproterenol44 1110.4ADCY10, PTH, APC, GNAS
10ribonucleic acid449.3GNAS, H19, IGF2, PTH
115-aza-2deoxycytidine449.2IGF2, APC, H19
12guanine44 11 2411.2ADCY10, IGF2, APC, GNAS
13acth449.2GNAS, H19, APC, IGF2
14thymidine44 2410.1GNAS, H19, IGF2, PTH
15norepinephrine44 11 2411.1GNAS, APC, IGF2, ADCY10
16cyclic amp44 2410.1GNAS, APC, PTH, ADCY10
17prostacyclin449.1ADCY10, IGF2, APC
18adenylate448.9GNAS, APC, IGF2, PTH, ADCY10
19cycloheximide448.5APC, IGF2, PTH, ADCY10
20tyrosine448.2GNAS, H19, APC, GRB10, IGF2, PTH

GO Terms for genes affiliated with Albright's Hereditary Osteodystrophy

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16Gene Ontology
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Biological processes related to Albright's Hereditary Osteodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cAMP biosynthetic processGO:0308199.9PTH, GNAS
2cAMP biosynthetic processGO:0061719.9ADCY10, GNAS
3positive regulation of glycogen biosynthetic processGO:0457259.5PTH, IGF2
4skeletal system developmentGO:0015018.7PTH, IGF2, HDAC4

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

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase activityGO:0040169.6ADCY10, GNAS
2insulin receptor bindingGO:0051589.5IGF2, GRB10

Products for genes affiliated with Albright's Hereditary Osteodystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet