MCID: ALB001
MIFTS: 51

Albright's Hereditary Osteodystrophy

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 tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pituitary, 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 67)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 30.6 ADCY10 APC GNAS STX16
2 pseudohypoparathyroidism, type ib 30.5 GNAS STX16
3 hypothyroidism, congenital, nongoitrous, 1 30.3 GNAS STX16
4 mccune-albright syndrome 30.3 APC GNAS
5 pseudopseudohypoparathyroidism 30.2 GNAS HDAC4 PRKAR1A STX16
6 pituitary adenoma, prolactin-secreting 29.8 GNAS PRKAR1A
7 acrodysostosis 29.7 GNAS PDE4D PRKAR1A
8 brachydactyly 29.3 GNAS HDAC4 PDE4D PRKAR1A
9 chromosome 2q37 deletion syndrome 12.2
10 2q37 deletion syndrome 11.9
11 osseous heteroplasia, progressive 11.9
12 pseudohypoparathyroidism, type ia 11.8
13 pseudohypoparathyroidism, type ii 11.4
14 pseudohypoparathyroidism, type ic 11.4
15 hypoparathyroidism 10.3
16 bowenoid papulosis 10.3
17 craniosynostosis 10.2
18 growth hormone deficiency 10.2
19 phosphorus metabolism disease 10.2 GNAS STX16
20 diabetes insipidus, nephrogenic, autosomal 10.2
21 spinal stenosis 10.2
22 congenital hypothyroidism 10.2
23 atrioventricular block 10.2
24 primary hyperparathyroidism 10.2
25 hyperparathyroidism 10.2
26 hypothyroidism 10.2
27 atrial heart septal defect 10.2
28 gastroenteritis 10.2
29 astrocytoma 10.2
30 eosinophilic gastroenteritis 10.2
31 pilocytic astrocytoma of cerebellum 10.2
32 diabetes insipidus 10.2
33 intracranial hypertension 10.2
34 eosinophilic enteropathy 10.2
35 pilocytic astrocytoma 10.2
36 hemifacial spasm 10.2
37 metal metabolism disorder 10.2 GNAS STX16
38 neurofibromatosis, type ii 10.1
39 blepharophimosis, ptosis, and epicanthus inversus 10.1
40 carpal tunnel syndrome 10.1
41 epicanthus 10.1
42 legg-calve-perthes disease 10.1
43 mononeuropathy of the median nerve, mild 10.1
44 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.1
45 cataract 10.1
46 ptosis 10.1
47 blepharophimosis 10.1
48 xp22.3 microdeletion syndrome 10.1
49 nevus comedonicus 10.1
50 hormone producing pituitary cancer 10.1 GNAS 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:

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 abnormal calcium-phosphate regulating hormone level 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
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4 Anti-Asthmatic Agents Phase 4,Phase 2
5 Neurotransmitter Agents Phase 4,Phase 2
6 Peripheral Nervous System Agents Phase 4,Phase 2
7 Respiratory System Agents Phase 4,Phase 2
8 Bronchodilator Agents Phase 4,Phase 2
9 Autonomic Agents Phase 4,Phase 2
10 Vasodilator Agents Phase 4,Phase 2
11 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
12 Phosphodiesterase Inhibitors Phase 4,Phase 2
13 Anti-Infective Agents Phase 2
14 sodium thiosulfate Phase 2
15 Protective Agents Phase 2
16 Antioxidants Phase 2
17 Antidotes Phase 2
18 Antitubercular Agents Phase 2
19 Chelating Agents Phase 2
20 Anti-Bacterial Agents Phase 2
21
Parathyroid hormone Approved, Investigational 9002-64-6
22
Calcium Approved, Nutraceutical 7440-70-2 271
23
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
24
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
25
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
26 Hormones Not Applicable
27 Nutrients
28 Calciferol
29 Vitamin D2
30 Vitamins
31 Calcium, Dietary
32 Trace Elements
33 Hormones, Hormone Substitutes, and Hormone Antagonists
34 Ergocalciferols
35 Bone Density Conservation Agents
36 Micronutrients
37 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 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 30

Anatomical Context for Albright's Hereditary Osteodystrophy

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

42
Bone, Skin, Pituitary, Thyroid, Breast, Ovary, Cerebellum

Publications for Albright's Hereditary Osteodystrophy

Articles related to Albright's Hereditary Osteodystrophy:

(show top 50) (show all 126)
# 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
Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy. ( 28035428 )
2017
5
Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report. ( 28329522 )
2017
6
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. ( 26763073 )
2016
7
Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS. ( 26116601 )
2015
8
Analysis of aberrantly spliced transcripts of a novel de novo GNAS mutant in a male with albright hereditary osteodystrophy and PHP1A. ( 25502941 )
2015
9
Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. ( 25894639 )
2015
10
Albright's hereditary osteodystrophy. ( 24136073 )
2014
11
A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay. ( 24785890 )
2014
12
Albright hereditary osteodystrophy: a case report. ( 25478468 )
2014
13
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. ( 23814007 )
2013
14
Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal? ( 23424688 )
2013
15
Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report. ( 23617958 )
2013
16
Eruptive, hard cutaneous nodules in a 61-year-old woman. Osteoma cutis in a patient with Albright hereditary osteodystrophy (AHO). ( 23804016 )
2013
17
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. ( 22277900 )
2012
18
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. ( 22679513 )
2012
19
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. ( 22814975 )
2012
20
Images in clinical medicine. Albright's hereditary osteodystrophy. ( 23268667 )
2012
21
Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy. ( 22346135 )
2012
22
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. ( 21525160 )
2011
23
Albright hereditary osteodystrophy. ( 20738794 )
2011
24
Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy. ( 21747923 )
2011
25
A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype. ( 22272459 )
2011
26
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. ( 19856255 )
2010
27
Legg-Calve-Perthes disease in a patient with Albright hereditary osteodystrophy: a case report. ( 20124073 )
2010
28
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. ( 19658058 )
2010
29
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. ( 20061437 )
2010
30
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. ( 19863504 )
2010
31
Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation. ( 20015054 )
2010
32
[Albright's hereditary osteodystrophy: report of three cases]. ( 20467695 )
2010
33
Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. ( 20523775 )
2009
34
Albright hereditary osteodystrophy: a rare case report. ( 19841552 )
2009
35
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
36
Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype. ( 18541966 )
2008
37
Spinal stenosis with paraparesis in albright hereditary osteodystrophy. Case report and review of the literature. ( 18552518 )
2008
38
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. ( 18089698 )
2008
39
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
40
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. ( 17405843 )
2007
41
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
42
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
43
Albright's hereditary osteodystrophy. ( 16514227 )
2006
44
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. ( 16789630 )
2006
45
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. ( 16789632 )
2006
46
Albright's hereditary osteodystrophy. ( 16789633 )
2006
47
Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. ( 17137912 )
2006
48
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ( 16116826 )
2005
49
A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. ( 16099856 )
2005
50
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. ( 15633718 )
2004

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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