AHO
MCID: ALB001
MIFTS: 59

Albright's Hereditary Osteodystrophy (AHO) malady

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

Summaries for Albright's Hereditary Osteodystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 hypoparathyroidism and pseudohypoparathyroidism type 1b, 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 Endochondral Ossification. The compounds forskolin and pphp have been mentioned in the context of this disorder. Affiliated tissues include h, foot and thyroid, 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:47 103580,612462,612463

Aliases & Classifications for Albright's Hereditary Osteodystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 49Orphanet, 9diseasecard, 20GeneTests, 22GTR, 47OMIM, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Nephrological, Bone, Skin, Endocrine


Characteristics (Orphanet epidemiological data):

49
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 43 61
pseudohypoparathyroidism ia 9 20 22 47
albright hereditary osteodystrophy 43 22 49
pseudohypoparathyroidism type 1a 8 43 49
albright hereditary osteodystrophy with multiple hormone resistance 43
albright hereditary osteodystrophy - php ia 49
pseudohypoparathyroidism 61
aho - php ia 49
php1a 43
aho 43


External Ids:

Disease Ontology8 DOID:0080053
UMLS via Orphanet62 C2931404
MESH via Orphanet36 C537045
ICD10 via Orphanet26 E20.1, Q78.1
SNOMED-CT via Orphanet58 58833000

Related Diseases for Albright's Hereditary Osteodystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.9PTH
2pseudohypoparathyroidism type 1b30.6PTH, STX16, GNAS
3growth hormone deficiency30.5IGF2
4insulin resistance30.3IGF2, GNAS
5acrodysostosis30.2GNAS
6osteitis fibrosa30.2PTH, GNAS
7brachydactyly30.2HDAC4, GNAS, PTH, ADCY10
8mccune albright syndrome30.0GNAS
92q37 microdeletion syndrome10.5
10pseudopseudohypoparathyroidism10.4
11pseudohypoparathyroidism type 210.4
12congenital hypothyroidism10.4
13rickets10.3
14carpal tunnel syndrome10.3
15blepharophimosis10.3
16legg-calve-perthes disease10.3
173-m syndrome10.3
189q22.3 microdeletion10.3
1915q13.3 microdeletion10.3
2015q24 microdeletion syndrome10.3
2116p11.2 microdeletion10.3
22mental retardation10.3
23morbid obesity10.2
24renal tubular acidosis10.2
25pseudohypoparathyroidism type 1c10.2
26renal tubular acidosis, distal10.2
27short stature10.2
28paroxysmal dyskinesia10.2
29renal osteodystrophy10.0
30primary hyperparathyroidism10.0
31protein c deficiency10.0
32mccune–albright syndrome10.0
33protein r deficiency10.0
34slipped capital femoral epiphysis10.0
35hyperparathyroidism, neonatal10.0
362q37 deletion syndrome10.0
37multiple endocrine neoplasia10.0GNAS
38diabetes mellitus10.0PTH
39melanoma10.0GRB10
40leydig cell tumor10.0ADCY10, GNAS
41parathyroid adenoma10.0GNAS, PTH
42gigantism10.0GNAS, H19
43goiter10.0PTH, GNAS
44hyperparathyroidism10.0ADCY10, PTH
45polycystic ovary syndrome10.0IGF2
46thyroid adenoma10.0GNAS, APC
47hyperphosphatemia10.0PTH, GNAS, STX16
48wermer syndrome10.0PTH, GNAS
49hypothyroidism10.0ADCY10, PTH, GNAS
50hypertension10.0PTH

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

103580,612462,612463

Clinical synopsis from OMIM:

103580

Symptoms:

49 (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

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
14FMA, 33MalaCards
See all sources

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

33
Thyroid, Skin

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

14
H, Foot

Animal Models for Albright's Hereditary Osteodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.2H19
2MP:00053699.3H19, APC, IGF2
3MP:00053718.6GNAS, H19, APC, PTH, IGF2
4MP:00053708.3GNAS, H19, APC, GRB10, IGF2
5MP:00030128.3ETV2, IGF2, APC, H19, GNAS
6MP:00053828.1APC, PTH, IGF2, GNAS, H19, HDAC4
7MP:00053907.9GNAS, H19, APC, HDAC4, IGF2, PTH
8MP:00053857.8ADCY10, APC, PTH, ETV2, IGF2, H19
9MP:00053787.1GRB10, PTH, HDAC4, APC, H19, IGF2
10MP:00107686.7ETV2, IGF2, GRB10, HDAC4, APC, H19

Publications for Albright's Hereditary Osteodystrophy

Sources:
51PubMed
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Articles related to Albright's Hereditary Osteodystrophy:

(show all 31)
idTitleAuthorsYear
1
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. (23814007)
2013
2
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. (22814975)
2012
3
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. (21525160)
2011
4
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. (19863504)
2010
5
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. (19658058)
2010
6
Spinal stenosis with paraparesis in albright hereditary osteodystrophy. Case report and review of the literature. (18552518)
2008
7
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. (18089698)
2008
8
Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. (18626245)
2008
9
Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene. (18806481)
2008
10
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. (17299070)
2007
11
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
12
Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. (17137912)
2006
13
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. (12624854)
2003
14
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. (9589656)
1998
15
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. (9788040)
1998
16
A novel mutation in the switch 3 region of Gs-alpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. (9727013)
1998
17
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. (8699958)
1996
18
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. (8636385)
1996
19
Glomerular-specific imprinting of the mouse gsalpha gene: how does this relate to hormone resistance in albright hereditary osteodystrophy? (8812454)
1996
20
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. (7847374)
1995
21
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. (7566382)
1995
22
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. (7523385)
1994
23
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. (8388883)
1993
24
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. (2109828)
1990
25
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. (2122458)
1990
26
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. (2121768)
1990
27
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
28
Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophy. (225067)
1979
29
Albright's hereditary osteodystrophy. Report of a family with studies of bone remodeling. (5933794)
1966
30
PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY. (14117275)
1964
31
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

Genetic Variations for Albright's Hereditary Osteodystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Albright's Hereditary Osteodystrophy:

63 (show all 16)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome
See all sources

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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB
See all sources

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

(show all 20)
idCompoundScoreTop Affiliating Genes
1forskolin45 50 1112.5PTH
2pphp4510.1APC, GNAS
3nap-2459.9H19, IGF2
4apai459.8IGF2, H19
5sodium bisulfite459.7IGF2, APC
6octreotide45 60 29 1112.6IGF2, GNAS, ADCY10
7rsai459.6IGF2, H19
8ibmx45 29 6011.5ADCY10, IGF2, PTH
9isoproterenol45 1110.4ADCY10, PTH, APC, GNAS
10ribonucleic acid459.3PTH, IGF2, H19, GNAS
115-aza-2deoxycytidine459.2APC, H19, IGF2
12guanine45 11 2411.2IGF2, APC, GNAS, ADCY10
13acth459.2IGF2, APC, H19, GNAS
14thymidine45 2410.1GNAS, H19, PTH, IGF2
15norepinephrine45 11 2411.1GNAS, APC, IGF2, ADCY10
16cyclic amp45 2410.1GNAS, PTH, APC, ADCY10
17prostacyclin459.1IGF2, ADCY10, APC
18adenylate458.9GNAS, APC, IGF2, PTH, ADCY10
19cycloheximide458.5ADCY10, PTH, IGF2, APC
20tyrosine458.2PTH, IGF2, GRB10, APC, H19, GNAS

GO Terms for genes affiliated with Albright's Hereditary Osteodystrophy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Albright's Hereditary Osteodystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet