AHO
MCID: ALB001
MIFTS: 55

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 77 54 30 45 15 74
Albright Hereditary Osteodystrophy 12 54
Pseudohypoparathyroidism Type 1a 12 54
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 54
Pseudohypoparathyroidism with Albright Hereditary Osteodystrophy 54
Pseudohypoparathyroidism, Type Ia 74
Pseudohypoparathyroidism 74
Php1a 54
Aho 54

Classifications:



Summaries for Albright's Hereditary Osteodystrophy

NIH Rare Diseases : 54 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 called pseudopseudohypoparathyroidism (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 and pseudohypoparathyroidism, type ib, 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 : 77 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 top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 30.6 ADCY10 APC GNAS STX16
2 pseudohypoparathyroidism, type ib 30.4 GNAS STX16
3 hypothyroidism, congenital, nongoitrous, 1 30.3 GNAS STX16
4 mccune-albright syndrome 30.3 APC GNAS
5 pseudopseudohypoparathyroidism 30.0 GNAS HDAC4 PRKAR1A STX16
6 acrodysostosis 29.6 GNAS PDE4D PRKAR1A
7 brachydactyly 29.3 GNAS HDAC4 PDE4D PRKAR1A
8 chromosome 2q37 deletion syndrome 12.2
9 2q37 deletion syndrome 11.9
10 osseous heteroplasia, progressive 11.8
11 pseudohypoparathyroidism, type ia 11.8
12 pseudohypoparathyroidism, type ii 11.4
13 pseudohypoparathyroidism, type ic 11.4
14 hypoparathyroidism 10.3
15 craniosynostosis 10.2
16 growth hormone deficiency 10.2
17 phosphorus metabolism disease 10.2 GNAS STX16
18 diabetes insipidus, nephrogenic, autosomal 10.2
19 spinal stenosis 10.2
20 congenital hypothyroidism 10.2
21 atrioventricular block 10.2
22 primary hyperparathyroidism 10.2
23 hyperparathyroidism 10.2
24 hypothyroidism 10.2
25 atrial heart septal defect 10.2
26 gastroenteritis 10.2
27 astrocytoma 10.2
28 eosinophilic gastroenteritis 10.2
29 diabetes insipidus 10.2
30 eosinophilic enteropathy 10.2
31 neonatal hypothyroidism 10.2
32 pilocytic astrocytoma 10.2
33 hemifacial spasm 10.2
34 metal metabolism disorder 10.2 GNAS STX16
35 neurofibromatosis, type ii 10.1
36 blepharophimosis, ptosis, and epicanthus inversus 10.1
37 carpal tunnel syndrome 10.1
38 epicanthus 10.1
39 legg-calve-perthes disease 10.1
40 mononeuropathy of the median nerve, mild 10.1
41 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.1
42 cataract 10.1
43 ptosis 10.1
44 blepharophimosis 10.1
45 bowenoid papulosis 10.1
46 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.1
47 hormone producing pituitary cancer 10.1 GNAS PRKAR1A
48 growth hormone secreting pituitary adenoma 10.0 GNAS PRKAR1A
49 carney complex variant 10.0 GNAS PRKAR1A
50 hyperphosphatemia 10.0 GNAS STX16

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:

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

UMLS symptoms related to Albright's Hereditary Osteodystrophy:


seizures

MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

47
# 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 37)
# 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 1401-55-4
4 Vasodilator Agents Phase 4,Phase 2
5 Peripheral Nervous System Agents Phase 4,Phase 2
6 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
7 Anti-Asthmatic Agents Phase 4,Phase 2
8 Autonomic Agents Phase 4,Phase 2
9 Neurotransmitter Agents Phase 4,Phase 2
10 Bronchodilator Agents Phase 4,Phase 2
11 Respiratory System Agents Phase 4,Phase 2
12 Phosphodiesterase Inhibitors Phase 4,Phase 2
13 Protective Agents Phase 2
14 Antitubercular Agents Phase 2
15 sodium thiosulfate Phase 2
16 Chelating Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Anti-Bacterial Agents Phase 2
19 Antidotes Phase 2
20 Antioxidants Phase 2
21
Parathyroid hormone Approved, Investigational 9002-64-6
22
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
23
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
24
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
25
Calcium Approved, Nutraceutical 7440-70-2 271
26 Hormones Not Applicable
27 Nutrients
28 Trace Elements
29 Vitamins
30 Calciferol
31 Bone Density Conservation Agents
32 Ergocalciferols
33 Vitamin D2
34 Hormone Antagonists
35 Micronutrients
36 Calcium, Dietary
37 Hormones, Hormone Substitutes, and Hormone Antagonists

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 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
7 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Terminated NCT01398774
8 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
9 Glucose Homeostasis in Pseudohypoparathyroidism Not yet recruiting NCT03761290
10 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242

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 30

Anatomical Context for Albright's Hereditary Osteodystrophy

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

42
Bone, Skin, Thyroid, Breast, Ovary

Publications for Albright's Hereditary Osteodystrophy

Articles related to Albright's Hereditary Osteodystrophy:

(show top 50) (show all 90)
# 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
Albright's hereditary osteodystrophy: historical credit. ( 11428358 )
2000
43
Visual vignette. Albright's hereditary osteodystrophy(AHO). ( 11421203 )
2000
44
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy. ( 11073544 )
2000
45
The Role of Genomic Imprinting of Galpha in the Pathogenesis of Albright Hereditary Osteodystrophy. ( 10322399 )
1999
46
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. ( 10465110 )
1999
47
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. ( 9788040 )
1998
48
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. ( 9589656 )
1998
49
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. ( 9506735 )
1998
50
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

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 11.87 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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