AHO
MCID: ALB001
MIFTS: 41

Albright's Hereditary Osteodystrophy (AHO) malady

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

Aliases & Classifications for Albright's Hereditary Osteodystrophy

Aliases & Descriptions for Albright's Hereditary Osteodystrophy:

Name: Albright's Hereditary Osteodystrophy 12 50 14 69
Albright Hereditary Osteodystrophy 12 50 29
Pseudohypoparathyroidism Type 1a 12 50
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 50
Pseudohypoparathyroidism, Type Ia 69
Pseudohypoparathyroidism 69
Php1a 50
Aho 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0080053

Summaries for Albright's Hereditary Osteodystrophy

NIH Rare Diseases : 50 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 based summary : Albright's Hereditary Osteodystrophy, also known as albright hereditary osteodystrophy, is related to pseudohypoparathyroidism, type ib and osseous heteroplasia, progressive, 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 Endochondral Ossification and Endothelin Pathways. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and craniofacial

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.

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 37)
id Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 32.6 GNAS STX16
2 osseous heteroplasia, progressive 32.1 APC GNAS
3 pseudohypoparathyroidism ic 31.9 GNAS HDAC4 STX16
4 pseudopseudohypoparathyroidism 12.0
5 pseudohypoparathyroidism ia 12.0
6 chromosome 2q37 deletion syndrome 11.8
7 2q37 microdeletion syndrome 11.3
8 2q37 deletion syndrome 11.3
9 pseudohypoparathyroidism, type ii 11.1
10 pseudohypoparathyroidism 10.4
11 obesity, severe bmiq9 10.2 GNAS STX16
12 gastric antral vascular ectasia 10.2 GNAS STX16
13 immunodeficiency 31a, mycobacteriosis, autosomal dominant 10.1 APC HDAC4
14 conventional central osteosarcoma 10.1 GNAS IGF2
15 brachydactyly 10.1
16 axial osteomalacia 10.0 APC GNAS
17 weill-marchesani syndrome 10.0 GNAS STX16
18 ceroid lipofuscinosis, neuronal, 13, kufs type 10.0 GRB10 IGF2
19 submucosal invasive colon adenocarcinoma 10.0 APC IGF2
20 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 H19 IGF2
21 toxin-mediated infectious botulism 10.0 H19 IGF2
22 esophageal leukoplakia 10.0 GNAS STX16
23 hall-riggs mental retardation syndrome 10.0 H19 IGF2
24 rapp-hodgkin syndrome 10.0 GRB10 IGF2
25 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 10.0 H19 IGF2
26 hemorrhagic fever 9.9 H19 IGF2
27 dental abscess 9.9 H19 IGF2
28 hypothyroidism 9.9
29 legg-calve-perthes disease 9.9
30 spinal stenosis 9.9
31 ptosis 9.9
32 blepharophimosis 9.9
33 intracranial thrombosis 9.8 ADCY10 APC GNAS STX16
34 fetal warfarin syndrome 9.8 H19 IGF2
35 malignant ovarian mixed epithelial neoplasm 9.8 APC H19 IGF2
36 argininosuccinic aciduria 9.7 GRB10 H19 IGF2
37 inclusion-cell disease 8.9 ADCY10 APC GNAS GRB10 H19 HDAC4

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

UMLS symptoms related to Albright's Hereditary Osteodystrophy:


seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.62 IGF2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.62 IGF2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.62 APC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.62 IGF2 GRB10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 IGF2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 APC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.62 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.62 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.62 APC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.62 GRB10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.62 GRB10
12 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.62 GRB10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.62 APC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 IGF2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.62 IGF2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.62 IGF2 APC GRB10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.62 IGF2

MGI Mouse Phenotypes related to Albright's Hereditary Osteodystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 APC GNAS HDAC4 IGF2
2 muscle MP:0005369 9.02 APC GNAS GRB10 HDAC4 IGF2

Drugs & Therapeutics for Albright's Hereditary Osteodystrophy

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

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2, Phase 3
2 Hormones Phase 2, Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
4
Theophylline Approved Phase 2 58-55-9 2153
5 Anti-Asthmatic Agents Phase 2
6 Autonomic Agents Phase 2
7 Bronchodilator Agents Phase 2
8 Neurotransmitter Agents Phase 2
9 Peripheral Nervous System Agents Phase 2
10 Phosphodiesterase Inhibitors Phase 2
11 Purinergic P1 Receptor Antagonists Phase 2
12 Respiratory System Agents Phase 2
13 Vasodilator Agents Phase 2
14
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
15
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
16 Bone Density Conservation Agents
17 Calcium, Dietary
18 Ergocalciferols
19 Micronutrients
20 Trace Elements
21 vitamin d
22 Vitamins
23 Calciferol Nutraceutical
24 Vitamin D2 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Albright Hereditary Osteodystrophy: Growth Hormone Trial and Cognitive/Behavioral Assessments Recruiting NCT00209235 Phase 2, Phase 3
2 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2
3 Theophylline Treatment for Pseudohypoparathyroidism Not yet recruiting NCT03029429 Phase 2
4 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484
5 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
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:

id 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:

39
Bone, Thyroid, Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Albright's Hereditary Osteodystrophy:

18
Foot, H

Publications for Albright's Hereditary Osteodystrophy

Articles related to Albright's Hereditary Osteodystrophy:

(show top 50) (show all 61)
id 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
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. ( 19856255 )
2010
10
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
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
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. ( 17405843 )
2007
13
Albright's hereditary osteodystrophy. ( 16514227 )
2006
14
Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy. ( 16789630 )
2006
15
Albright's hereditary osteodystrophy. ( 16789633 )
2006
16
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. ( 16789632 )
2006
17
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ( 16116826 )
2005
18
Pseudohypoparathyroidism with Albright's hereditary osteodystrophy (AHO) phenotype. ( 15633718 )
2004
19
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. ( 12656668 )
2003
20
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. ( 12541184 )
2002
21
Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship? ( 11598374 )
2001
22
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. ( 11600516 )
2001
23
Albright's hereditary osteodystrophy: historical credit. ( 11428358 )
2000
24
Visual vignette. Albright's hereditary osteodystrophy(AHO). ( 11421203 )
2000
25
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. ( 9589656 )
1998
26
Reproductive dysfunction in women with Albright's hereditary osteodystrophy. ( 9506735 )
1998
27
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. ( 9788040 )
1998
28
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
29
Albright's hereditary osteodystrophy with hypoparathyroidism. ( 10999072 )
1996
30
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene. ( 8636385 )
1996
31
Albright's hereditary osteodystrophy. ( 8741028 )
1996
32
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. ( 7566382 )
1995
33
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. ( 7853365 )
1994
34
Albright's hereditary osteodystrophy. ( 7837255 )
1994
35
[Cutaneous osteoma and Albright's hereditary osteodystrophy]. ( 7702269 )
1994
36
Imprinting in Albright's hereditary osteodystrophy. ( 8383205 )
1993
37
Cutaneous ossification in Albright's hereditary osteodystrophy. ( 8453149 )
1993
38
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. ( 1356667 )
1992
39
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? ( 1342872 )
1992
40
Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion. ( 1678415 )
1991
41
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. ( 2109828 )
1990
42
Albright's hereditary osteodystrophy and defective G proteins. ( 2109829 )
1990
43
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. ( 2121768 )
1990
44
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
45
Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association. ( 3983044 )
1985
46
Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. ( 4025387 )
1985
47
Albright's hereditary osteodystrophy: a review. ( 6278930 )
1982
48
Albright's hereditary osteodystrophy. ( 6246707 )
1980
49
Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophy. ( 225067 )
1979
50
Parathyroid hormone deficiency with Albright's hereditary osteodystrophy. ( 4370248 )
1974

Variations for Albright's Hereditary Osteodystrophy

ClinVar genetic disease variations for Albright's Hereditary Osteodystrophy:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_001077488.3(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
3 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
4 GNAS GNAS, IVS3AS, A-G, -12 single nucleotide variant Pathogenic
5 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh37 Chromosome 20, 57478624: 57478624
6 GNAS NM_001077488.3(GNAS): c.496C> T (p.Arg166Cys) single nucleotide variant Pathogenic rs137854532 GRCh37 Chromosome 20, 57480498: 57480498
7 GNAS NM_001077488.3(GNAS): c.568_571delGACT (p.Asp190Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
8 GNAS GNAS, 2-BP DEL, TG, EXON 11 deletion Pathogenic
9 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh37 Chromosome 20, 57484770: 57484770
10 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
11 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh37 Chromosome 20, 57484608: 57484608
12 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
13 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
14 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
15 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
16 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
17 GNAS GNAS, 1-BP INS, A, EXON 3 insertion Pathogenic
18 GNAS GNAS, 12-BP INS, NT1107 insertion Pathogenic
19 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
20 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815

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:

id Super pathways Score Top Affiliating Genes
1 10.77 HDAC4 IGF2
2 10.15 ADCY10 GNAS

GO Terms for Albright's Hereditary Osteodystrophy

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

id Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 8.96 GNAS STX16
2 perinuclear region of cytoplasm GO:0048471 8.92 ADCY10 APC GNAS STX16

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

id Name GO ID Score Top Affiliating Genes
1 insulin receptor signaling pathway GO:0008286 9.16 APC IGF2
2 negative regulation of Wnt signaling pathway GO:0030178 8.96 APC GRB10
3 skeletal system development GO:0001501 8.8 GNAS HDAC4 IGF2

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

id Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.96 GRB10 IGF2
2 insulin-like growth factor receptor binding GO:0005159 8.62 GNAS IGF2

Sources for Albright's Hereditary Osteodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....