MCID: ALB001
MIFTS: 52

Albright's Hereditary Osteodystrophy

Categories: Rare diseases, Metabolic diseases, Bone diseases, Endocrine 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 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 Anti-Asthmatic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and thyroid, and related phenotypes are abnormality of the penis and abnormality of the menstrual cycle

Disease Ontology : 12 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.

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

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

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 9.55 APC GNAS GRB10 PRKAR1A STX16
2 muscle MP:0005369 9.35 APC GNAS GRB10 HDAC4 PRKAR1A
3 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 2 58-55-9 2153
2 Anti-Asthmatic Agents Phase 2
3 Autonomic Agents Phase 2
4 Bronchodilator Agents Phase 2
5 Neurotransmitter Agents Phase 2
6 Peripheral Nervous System Agents Phase 2
7 Phosphodiesterase Inhibitors Phase 2
8 Purinergic P1 Receptor Antagonists Phase 2
9 Respiratory System Agents Phase 2
10 Vasodilator Agents Phase 2
11
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
12
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
13
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
14 Hormones Not Applicable
15 Bone Density Conservation Agents
16 Calcium, Dietary
17 Ergocalciferols
18 Hormone Antagonists
19 Hormones, Hormone Substitutes, and Hormone Antagonists
20 Micronutrients
21 Trace Elements
22 Vitamins
23 Calciferol Nutraceutical
24 Vitamin D2 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
2 Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT03029429 Phase 2 Theophylline;Placebos
3 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 Not Applicable recombinant human somatotropin
4 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
5 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
6 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
7 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Active, not recruiting NCT01398774

Search NIH Clinical Center for 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, Ovary, Breast

Publications for Albright's Hereditary Osteodystrophy

Articles related to Albright's Hereditary Osteodystrophy:

(show top 50) (show all 63)
# Title Authors Year
1
Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy. ( 28035428 )
2016
2
Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS. ( 26116601 )
2015
3
Albright's hereditary osteodystrophy. ( 24136073 )
2013
4
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. ( 23814007 )
2013
5
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. ( 22679513 )
2012
6
Images in clinical medicine. Albright's hereditary osteodystrophy. ( 23268667 )
2012
7
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. ( 22277900 )
2012
8
Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy. ( 22814975 )
2012
9
[Albright's hereditary osteodystrophy: report of three cases]. ( 20467695 )
2010
10
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. ( 19856255 )
2010
11
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
12
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. ( 17405843 )
2007
13
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
14
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. ( 16789632 )
2006
15
Albright's hereditary osteodystrophy. ( 16789633 )
2006
16
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. ( 16789630 )
2006
17
Albright's hereditary osteodystrophy. ( 16514227 )
2006
18
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ( 16116826 )
2005
19
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. ( 15633718 )
2004
20
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. ( 12656668 )
2003
21
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. ( 12541184 )
2002
22
[Eosinophilic gastroenteritis in a patient with Albright's hereditary osteodystrophy]. ( 12042157 )
2002
23
Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship? ( 11598374 )
2001
24
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. ( 11600516 )
2001
25
Albright's hereditary osteodystrophy: historical credit. ( 11428358 )
2000
26
Visual vignette. Albright's hereditary osteodystrophy(AHO). ( 11421203 )
2000
27
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. ( 9788040 )
1998
28
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. ( 9589656 )
1998
29
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. ( 9506735 )
1998
30
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
31
Albright's hereditary osteodystrophy. ( 8741028 )
1996
32
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. ( 8636385 )
1996
33
Albright's hereditary osteodystrophy with hypoparathyroidism. ( 10999072 )
1996
34
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. ( 7566382 )
1995
35
[Cutaneous osteoma and Albright's hereditary osteodystrophy]. ( 7702269 )
1994
36
Albright's hereditary osteodystrophy. ( 7837255 )
1994
37
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. ( 7853365 )
1994
38
Imprinting in Albright's hereditary osteodystrophy. ( 8383205 )
1993
39
Cutaneous ossification in Albright's hereditary osteodystrophy. ( 8453149 )
1993
40
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. ( 1356667 )
1992
41
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? ( 1342872 )
1992
42
Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion. ( 1678415 )
1991
43
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. ( 2109828 )
1990
44
Albright's hereditary osteodystrophy and defective G proteins. ( 2109829 )
1990
45
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. ( 2121768 )
1990
46
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
47
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. ( 4025387 )
1985
48
Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association. ( 3983044 )
1985
49
Albright's hereditary osteodystrophy: a review. ( 6278930 )
1982
50
Albright's hereditary osteodystrophy. ( 6246707 )
1980

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
12.69 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 11.05 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 9.16 APC GRB10
2 cellular response to glucagon stimulus GO:0071377 8.96 GNAS PRKAR1A
3 renal water homeostasis GO:0003091 8.62 GNAS PRKAR1A

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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