AHO
MCID: ALB001
MIFTS: 53

Albright's Hereditary Osteodystrophy (AHO)

Categories: Bone diseases, Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Albright's Hereditary Osteodystrophy

MalaCards integrated aliases for Albright's Hereditary Osteodystrophy:

Name: Albright's Hereditary Osteodystrophy 12 76 53 29 44 15 73
Albright Hereditary Osteodystrophy 12 53
Pseudohypoparathyroidism Type 1a 12 53
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 53
Pseudohypoparathyroidism with Albright Hereditary Osteodystrophy 53
Pseudohypoparathyroidism, Type Ia 73
Pseudohypoparathyroidism 73
Php1a 53
Aho 53

Classifications:



Summaries for Albright's Hereditary Osteodystrophy

NIH Rare Diseases : 53 Albright's hereditary osteodystrophy (AHO) is a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications (formation of bone under the skin), and short fingers and toes (brachydactyly). When the disorder is inherited from the mother, the features of AHO can be associated with resistance to certain hormones, in particular the parathyroid hormone (PTH). This is called pseudohypoparathyroidism type 1a (PHP1a). When inherited from the father, an individual will have AHO without any hormone issues, which is calledpseudopseudohypoparathyroidism (PPHP). This condition is inherited in anautosomal dominant manner due to a mutation in the GNAS gene. Treatment consists of calcium and vitamin D supplements. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate.

MalaCards based summary : Albright's Hereditary Osteodystrophy, also known as albright hereditary osteodystrophy, is related to pseudohypoparathyroidism, type ib and pseudopseudohypoparathyroidism, and has symptoms including seizures An important gene associated with Albright's Hereditary Osteodystrophy is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signaling by GPCR and DAG and IP3 signaling. The drugs Theophylline and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and thyroid, and related phenotypes are joint dislocation and obesity

Disease Ontology : 12 An pseudohypoparathyroidism 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.

Wikipedia : 76 Albright''s hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of... more...

Related Diseases for Albright's Hereditary Osteodystrophy

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 31.7 GNAS STX16
2 pseudopseudohypoparathyroidism 31.6 GNAS HDAC4 PRKAR1A STX16
3 pseudohypoparathyroidism 30.6 ADCY10 APC GNAS STX16
4 mccune-albright syndrome 30.2 APC GNAS
5 hypothyroidism, congenital, nongoitrous, 1 30.2 GNAS STX16
6 brachydactyly 29.8 GNAS HDAC4 PDE4D PRKAR1A
7 chromosome 2q37 deletion syndrome 12.2
8 2q37 deletion syndrome 11.9
9 osseous heteroplasia, progressive 11.8
10 pseudohypoparathyroidism, type ia 11.8
11 pseudohypoparathyroidism, type ic 11.5
12 pseudohypoparathyroidism, type ii 11.0
13 craniosynostosis 10.2
14 congenital hypothyroidism 10.2
15 growth hormone deficiency 10.2
16 neonatal hypothyroidism 10.2
17 phosphorus metabolism disease 10.1 GNAS STX16
18 neurofibromatosis, type ii 10.1
19 blepharophimosis, ptosis, and epicanthus inversus 10.1
20 carpal tunnel syndrome 10.1
21 epicanthus 10.1
22 legg-calve-perthes disease 10.1
23 body mass index quantitative trait locus 1 10.1
24 mononeuropathy of the median nerve, mild 10.1
25 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.1
26 cataract 10.1
27 spinal stenosis 10.1
28 ptosis 10.1
29 blepharophimosis 10.1
30 hypothyroidism 10.1
31 metal metabolism disorder 10.1 GNAS STX16
32 hormone producing pituitary cancer 10.0 GNAS PRKAR1A
33 growth hormone secreting pituitary adenoma 10.0 GNAS PRKAR1A
34 carney complex variant 10.0 GNAS PRKAR1A
35 hyperphosphatemia 10.0 GNAS STX16
36 fibrous dysplasia 10.0 APC GNAS
37 bipolar disorder 10.0
38 morbid obesity 10.0
39 renal tubular acidosis 10.0
40 sleep apnea 10.0
41 renal tubular acidosis, distal 10.0
42 hypocalcemia, autosomal dominant 1 10.0 GNAS PRKAR1A
43 idiopathic hypercalciuria 9.9 ADCY10 PRKAR1A
44 primary pigmented nodular adrenocortical disease 9.9 GNAS PRKAR1A
45 acrodysostosis with multiple hormone resistance 9.9 PDE4D PRKAR1A
46 pituitary adenoma, prolactin-secreting 9.8 GNAS PRKAR1A
47 acrodysostosis 9.7 GNAS PDE4D PRKAR1A

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



Diseases related to Albright's Hereditary Osteodystrophy

Symptoms & Phenotypes for Albright's Hereditary Osteodystrophy

Human phenotypes related to Albright's Hereditary Osteodystrophy:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 joint dislocation 32 hallmark (90%) HP:0001373
2 obesity 32 hallmark (90%) HP:0001513
3 precocious puberty 32 hallmark (90%) HP:0000826
4 intellectual disability 32 frequent (33%) HP:0001249
5 scoliosis 32 frequent (33%) HP:0002650
6 coarse facial features 32 frequent (33%) HP:0000280
7 hearing impairment 32 occasional (7.5%) HP:0000365
8 skeletal dysplasia 32 hallmark (90%) HP:0002652
9 thickened calvaria 32 occasional (7.5%) HP:0002684
10 visual impairment 32 occasional (7.5%) HP:0000505
11 cognitive impairment 32 frequent (33%) HP:0100543
12 subcutaneous nodule 32 frequent (33%) HP:0001482
13 thin skin 32 frequent (33%) HP:0000963
14 abnormality of the hip bone 32 occasional (7.5%) HP:0003272
15 dry skin 32 frequent (33%) HP:0000958
16 alopecia 32 occasional (7.5%) HP:0001596
17 hyperthyroidism 32 hallmark (90%) HP:0000836
18 goiter 32 frequent (33%) HP:0000853
19 polycystic ovaries 32 occasional (7.5%) HP:0000147
20 multiple cafe-au-lait spots 32 hallmark (90%) HP:0007565
21 sarcoma 32 occasional (7.5%) HP:0100242
22 round face 32 hallmark (90%) HP:0000311
23 recurrent fractures 32 occasional (7.5%) HP:0002757
24 abnormality of calcium-phosphate metabolism 32 hallmark (90%) HP:0100530
25 abnormality of the menstrual cycle 32 frequent (33%) HP:0000140
26 gynecomastia 32 hallmark (90%) HP:0000771
27 abnormality of the penis 32 frequent (33%) HP:0000036
28 neoplasm of the thyroid gland 32 occasional (7.5%) HP:0100031
29 testicular neoplasm 32 occasional (7.5%) HP:0010788
30 neoplasm of the breast 32 occasional (7.5%) HP:0100013
31 hyperphosphatemia 32 hallmark (90%) HP:0002905

UMLS symptoms related to Albright's Hereditary Osteodystrophy:


seizures

MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.65 APC GNAS GRB10 PRKAR1A STX16
2 craniofacial MP:0005382 9.46 APC GNAS HDAC4 PRKAR1A
3 muscle MP:0005369 9.35 APC GNAS GRB10 HDAC4 PRKAR1A
4 skeleton MP:0005390 9.02 APC GNAS HDAC4 PRKAR1A STX16

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

Drugs for Albright's Hereditary Osteodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4,Phase 2 58-55-9 2153
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3 tannic acid Approved Phase 4
4 Neurotransmitter Agents Phase 4,Phase 2
5 Anti-Asthmatic Agents Phase 4,Phase 2
6 Vasodilator Agents Phase 4,Phase 2
7 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
8 Phosphodiesterase Inhibitors Phase 4,Phase 2
9 Respiratory System Agents Phase 4,Phase 2
10 Peripheral Nervous System Agents Phase 4,Phase 2
11 Bronchodilator Agents Phase 4,Phase 2
12 Autonomic Agents Phase 4,Phase 2
13 Antidotes Phase 2
14 Antitubercular Agents Phase 2
15 Antioxidants Phase 2
16 Protective Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Chelating Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 sodium thiosulfate Phase 2
21
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
22
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
23
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
24 Hormones Not Applicable
25 Calciferol
26 Trace Elements
27 Ergocalciferols
28 Calcium, Dietary
29 Hormones, Hormone Substitutes, and Hormone Antagonists
30 Micronutrients
31 Hormone Antagonists
32 Bone Density Conservation Agents
33 Vitamin D2
34 Vitamins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Theophylline in Pseudohypoparathyroidism Not yet recruiting NCT03718403 Phase 4 Theophylline
2 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
3 Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT03029429 Phase 2 Theophylline;Placebos
4 Intralesional Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Not yet recruiting NCT03582800 Phase 2 STS
5 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 Not Applicable recombinant human somatotropin
6 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
7 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
8 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
9 Glucose Homeostasis in Pseudohypoparathyroidism Not yet recruiting NCT03761290
10 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Terminated NCT01398774

Search NIH Clinical Center for Albright's Hereditary Osteodystrophy

Cochrane evidence based reviews: albright's hereditary osteodystrophy

Genetic Tests for Albright's Hereditary Osteodystrophy

Genetic tests related to Albright's Hereditary Osteodystrophy:

# Genetic test Affiliating Genes
1 Albright's Hereditary Osteodystrophy 29

Anatomical Context for Albright's Hereditary Osteodystrophy

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

41
Bone, Skin, Thyroid, Breast, Ovary, Pituitary

Publications for Albright's Hereditary Osteodystrophy

Articles related to Albright's Hereditary Osteodystrophy:

(show top 50) (show all 93)
# Title Authors Year
1
Cranio-Maxillofacial and Dental Findings in Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism. ( 30497275 )
2018
2
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI. ( 29059381 )
2018
3
Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation. ( 30349702 )
2018
4
Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report. ( 28329522 )
2017
5
Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy. ( 28035428 )
2016
6
Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS. ( 26116601 )
2015
7
Albright hereditary osteodystrophy: a case report. ( 25478468 )
2014
8
Albright's hereditary osteodystrophy. ( 24136073 )
2013
9
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. ( 23814007 )
2013
10
Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal? ( 23424688 )
2013
11
Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report. ( 23617958 )
2013
12
Eruptive, hard cutaneous nodules in a 61-year-old woman. Osteoma cutis in a patient with Albright hereditary osteodystrophy (AHO). ( 23804016 )
2013
13
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. ( 22679513 )
2012
14
Images in clinical medicine. Albright's hereditary osteodystrophy. ( 23268667 )
2012
15
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. ( 22277900 )
2012
16
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. ( 22814975 )
2012
17
Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy. ( 22346135 )
2012
18
Albright hereditary osteodystrophy. ( 20738794 )
2011
19
Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy. ( 21747923 )
2011
20
A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype. ( 22272459 )
2011
21
[Albright's hereditary osteodystrophy: report of three cases]. ( 20467695 )
2010
22
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. ( 19856255 )
2010
23
Albright hereditary osteodystrophy: a rare case report. ( 19841552 )
2009
24
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
25
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. ( 17405843 )
2007
26
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
27
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. ( 16789632 )
2006
28
Albright's hereditary osteodystrophy. ( 16789633 )
2006
29
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. ( 16789630 )
2006
30
Albright's hereditary osteodystrophy. ( 16514227 )
2006
31
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ( 16116826 )
2005
32
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. ( 15633718 )
2004
33
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. ( 15264288 )
2004
34
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. ( 15521982 )
2004
35
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. ( 12656668 )
2003
36
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). ( 12966529 )
2003
37
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. ( 12541184 )
2002
38
[Eosinophilic gastroenteritis in a patient with Albright's hereditary osteodystrophy]. ( 12042157 )
2002
39
Oral manifestations of Albright hereditary osteodystrophy: a case report. ( 12244336 )
2002
40
Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship? ( 11598374 )
2001
41
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. ( 11600516 )
2001
42
Visual vignette. Albright's hereditary osteodystrophy(AHO). ( 11421203 )
2000
43
Albright's hereditary osteodystrophy: historical credit. ( 11428358 )
2000
44
Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting. ( 10759021 )
2000
45
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy. ( 11073544 )
2000
46
The Role of Genomic Imprinting of Galpha in the Pathogenesis of Albright Hereditary Osteodystrophy. ( 10322399 )
1999
47
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. ( 10465110 )
1999
48
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. ( 9788040 )
1998
49
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. ( 9589656 )
1998
50
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. ( 9506735 )
1998

Variations for Albright's Hereditary Osteodystrophy

Expression for Albright's Hereditary Osteodystrophy

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

Pathways for Albright's Hereditary Osteodystrophy

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ADCY10 APC GNAS GRB10 HDAC4 PDE4D
2
Show member pathways
12.67 GNAS HDAC4 PDE4D PRKAR1A
3
Show member pathways
12.62 ADCY10 GNAS PDE4D PRKAR1A
4
Show member pathways
12.25 ADCY10 GNAS PRKAR1A
5
Show member pathways
12.2 GNAS PDE4D PRKAR1A
6
Show member pathways
12.18 GNAS PDE4D PRKAR1A
7
Show member pathways
11.85 ADCY10 GNAS PDE4D
8
Show member pathways
11.65 GNAS PDE4D PRKAR1A
9 11.55 APC GNAS PRKAR1A
10 11.38 GNAS PDE4D
11
Show member pathways
11.09 GNAS PDE4D PRKAR1A
12 11.07 GNAS PRKAR1A
13 10.94 ADCY10 GNAS
14 10.74 GNAS PDE4D PRKAR1A
15 10.68 GNAS PRKAR1A

GO Terms for Albright's Hereditary Osteodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.56 ADCY10 APC GNAS GRB10 HDAC4 PDE4D
2 perinuclear region of cytoplasm GO:0048471 9.46 ADCY10 APC GNAS STX16
3 neuromuscular junction GO:0031594 9.26 HDAC4 PRKAR1A
4 cytosol GO:0005829 9.23 ADCY10 APC GNAS GRB10 HDAC4 PDE4D

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of Wnt signaling pathway GO:0030178 9.26 APC GRB10
2 renal water homeostasis GO:0003091 9.16 GNAS PRKAR1A
3 cellular response to glucagon stimulus GO:0071377 8.96 GNAS PRKAR1A
4 positive regulation of cold-induced thermogenesis GO:0120162 8.8 APC GNAS GRB10

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

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.16 ADCY10 PDE4D
2 cAMP binding GO:0030552 8.96 PDE4D PRKAR1A
3 beta-2 adrenergic receptor binding GO:0031698 8.62 GNAS PDE4D

Sources for Albright's Hereditary Osteodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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