POH
MCID: OSS012
MIFTS: 61

Osseous Heteroplasia, Progressive (POH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Osseous Heteroplasia, Progressive

MalaCards integrated aliases for Osseous Heteroplasia, Progressive:

Name: Osseous Heteroplasia, Progressive 56 13 43
Progressive Osseous Heteroplasia 12 74 52 25 58 73 36 29 6 15
Poh 56 12 52 25 58 73
Osteoma Cutis 56 12 25 54 71
Familial Ectopic Ossification 12 52 58
Ectopic Ossification Familial Type 12 52
Heterotopic Ossification 25 71
Ectopic Ossification 25 6
Fibrodysplasia Ossificans Progressiva 71
Heteroplasia, Osseous, Progressive 39
Myositis Ossificans Progressiva 25
Ectopic Ossification, Familial 56
Ossification Heterotopic 54
Cutaneous Ossification 25
Osteosis Cutis 25
Osteodermia 25

Characteristics:

Orphanet epidemiological data:

58
progressive osseous heteroplasia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in infancy or childhood
variable severity and progression
caused by paternally-inherited inactivating gnas1 mutations


HPO:

31
osseous heteroplasia, progressive:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity juvenile onset infantile onset progressive


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111535
OMIM 56 166350
KEGG 36 H00441
MeSH 43 C562735
NCIt 49 C132062
SNOMED-CT 67 404074003 71304002
ICD10 via Orphanet 33 M61.5
UMLS via Orphanet 72 C0334041
Orphanet 58 ORPHA2762
UMLS 71 C0016037 C0029396 C0334041

Summaries for Osseous Heteroplasia, Progressive

NIH Rare Diseases : 52 Progressive osseous heteroplasia (POH) is a progressive bone disorder in which bone forms (ossifies) within skin and muscle tissue . It usually becomes apparent in infancy with skin (cutaneous) ossification, which progresses to involvement of subcutaneous and deep tissues, including muscle. In some cases, it first becomes apparent later in childhood or in early adulthood. Ossification may cause pain and open sores (ulcers) in affected areas of the body. Joints may become involved over time, causing impaired mobility. POH is caused by a mutation in the GNAS gene and is inherited in an autosomal dominant manner. In most cases, the mutation occurs randomly in a person with no family history of POH. In some cases, the mutation is inherited from a parent. There are currently no effective treatments for POH, and surgery to remove widespread lesions often results in recurrences or complications. However, well-circumscribed lesions can often be removed with successful, long-term results. POH is thought to be part of a spectrum of related genetic disorders which include Albright hereditary osteodystrophy , pseudohypoparathyroidism , and primary osteoma cutis . These disorders share the features of superficial ossification and being caused by mutations affecting the GNAS gene.

MalaCards based summary : Osseous Heteroplasia, Progressive, also known as progressive osseous heteroplasia, is related to ossification of the posterior longitudinal ligament of spine and myositis ossificans, and has symptoms including muscle weakness and polydipsia. An important gene associated with Osseous Heteroplasia, Progressive is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Calcium signaling pathway and Mesodermal Commitment Pathway. The drugs Etoricoxib and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are subcutaneous nodule and limitation of joint mobility

Disease Ontology : 12 A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has material basis in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32.

Genetics Home Reference : 25 Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility. Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood.

OMIM : 56 Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994). The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP. (166350)

KEGG : 36 Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin.

UniProtKB/Swiss-Prot : 73 Progressive osseous heteroplasia: Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue.

Wikipedia : 74 Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous... more...

Related Diseases for Osseous Heteroplasia, Progressive

Diseases related to Osseous Heteroplasia, Progressive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 429)
# Related Disease Score Top Affiliating Genes
1 ossification of the posterior longitudinal ligament of spine 33.0 RUNX2 ENPP1 BMP4 BMP2 BGLAP
2 myositis ossificans 32.6 SPARC BMP4 BGLAP ACVR1
3 disorders of gnas inactivation 31.0 STX16 GNAS
4 synostosis 31.0 RUNX2 NOG BMP4 BMP2
5 extraosseous osteosarcoma 30.9 SPARC BGLAP
6 calcinosis 30.9 SPARC GNAS ENPP1
7 fibrous dysplasia 30.9 SPARC RUNX2 GNAS BGLAP
8 osteogenic sarcoma 30.9 SPARC RUNX2 PTH BMP2 BGLAP
9 mccune-albright syndrome 30.9 SPARC GNAS BGLAP
10 chromosome 2q35 duplication syndrome 30.8 NOG BMP7 BMP4 BMP2
11 osteomalacia 30.8 PTH ENPP1 BGLAP
12 bone resorption disease 30.7 RUNX2 PTH BMP2 BGLAP
13 pseudopseudohypoparathyroidism 30.7 STX16 PTH GNAS
14 pseudohypoparathyroidism, type ia 30.7 STX16 PTH GNAS
15 osteonecrosis 30.6 RUNX2 PTH BMP7 BMP2 BGLAP
16 hypoparathyroidism 30.6 PTH GNAS BGLAP
17 rickets 30.6 PTH ENPP1 BGLAP
18 pseudohypoparathyroidism 30.5 STX16 PTH GNAS BGLAP
19 fibrodysplasia ossificans progressiva 30.5 NOG BMP4 BMP2 ACVR1
20 hypothyroidism, congenital, nongoitrous, 1 30.4 STX16 PTH GNAS
21 craniosynostosis 30.4 RUNX2 NOG ENPP1 BMP2
22 brachydactyly 30.3 STX16 RUNX2 PTH NOG GNAS BMP2
23 brittle bone disorder 30.3 SPARC RUNX2 PTH BMP2 BGLAP
24 ankylosis 30.3 RUNX2 NOG ENPP1 BMP4 BMP2 BGLAP
25 secondary hyperparathyroidism 30.2 PTH BMP7 BGLAP
26 bone disease 30.2 SPARC RUNX2 PTH NOG BMP7 BMP2
27 hyperphosphatemia 30.0 STX16 RUNX2 PTH GNAS BMP2 BGLAP
28 chronic kidney disease 29.8 RUNX2 PTH GNAS ENPP1 BMP7 BGLAP
29 osteoporosis 29.4 SPARC RUNX2 PTH NOG GNAS CA10
30 greenberg dysplasia 11.5
31 myositis 11.3
32 traumatic brain injury 10.8
33 brain injury 10.7
34 neurofibromatosis, type ii 10.6
35 spasticity 10.6
36 paraplegia 10.6
37 histoplasmosis 10.5
38 ocular motor apraxia 10.5
39 breast juvenile papillomatosis 10.5 GNAS BRCA2
40 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.5
41 stapes ankylosis with broad thumbs and toes 10.5 NOG BMP7
42 tracheoesophageal fistula with or without esophageal atresia 10.5 NOG BRCA2
43 synostoses, tarsal, carpal, and digital 10.5 NOG ACVR1
44 dental pulp disease 10.5 RUNX2 BMP2 BGLAP
45 spondyloarthropathy 1 10.5
46 inflammatory spondylopathy 10.5
47 spondylitis 10.5
48 tooth resorption 10.5 RUNX2 BMP2 BGLAP
49 camurati-engelmann disease 10.4 RUNX2 BGLAP ACVR1
50 fibrosarcomatous osteosarcoma 10.4 SPARC BGLAP

Graphical network of the top 20 diseases related to Osseous Heteroplasia, Progressive:



Diseases related to Osseous Heteroplasia, Progressive

Symptoms & Phenotypes for Osseous Heteroplasia, Progressive

Human phenotypes related to Osseous Heteroplasia, Progressive:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
2 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
3 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
4 ectopic calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0010766
5 ectopic ossification in muscle tissue 58 31 frequent (33%) Frequent (79-30%) HP:0011987
6 hypermelanotic macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001034
7 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
8 sarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100242
9 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
10 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
11 abnormality of the parathyroid gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0000828
12 macule 58 Occasional (29-5%)
13 growth delay 31 HP:0001510
14 abnormality of the musculature 31 HP:0003011
15 osteoma cutis 31 HP:0025027
16 ankylosis 31 HP:0031013
17 osteoma 31 HP:0100246

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
heterotopic bone formation in dermis and subcutaneous fat
joint ankylosis

Skin Nails Hair Skin:
dermal ossification (osteoma cutis)
subcutaneous papules in infancy

Skeletal Limbs:
growth retardation of affected limbs due to heterotopic bone formation

Muscle Soft Tissue:
heterotopic bone formation in subcutaneous fat

Clinical features from OMIM:

166350

UMLS symptoms related to Osseous Heteroplasia, Progressive:


muscle weakness, polydipsia

GenomeRNAi Phenotypes related to Osseous Heteroplasia, Progressive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 BRCA2 C1S FRK GNAS PIGT

MGI Mouse Phenotypes related to Osseous Heteroplasia, Progressive:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ACVR1 BMP2 BMP4 BMP7 BRCA2 ENPP1
2 behavior/neurological MP:0005386 10.24 ACVR1 BMP4 BMP7 BRCA2 ENPP1 GNAS
3 craniofacial MP:0005382 10.22 ACVR1 BMP2 BMP4 BMP7 ENPP1 GNAS
4 homeostasis/metabolism MP:0005376 10.18 ACVR1 BGLAP BMP2 BMP4 BRCA2 ENPP1
5 digestive/alimentary MP:0005381 10 ACVR1 BMP2 BMP4 BMP7 BRCA2 NOG
6 limbs/digits/tail MP:0005371 10 ACVR1 BMP2 BMP4 BMP7 BRCA2 ENPP1
7 integument MP:0010771 9.97 BMP4 BMP7 BRCA2 ENPP1 GNAS GRIK1
8 hearing/vestibular/ear MP:0005377 9.95 ACVR1 BMP2 BMP4 BMP7 ENPP1 GNAS
9 nervous system MP:0003631 9.9 ACVR1 BMP2 BMP4 BMP7 BRCA2 ENPP1
10 normal MP:0002873 9.61 BMP2 BMP4 BMP7 BRCA2 GNAS GRIK1
11 skeleton MP:0005390 9.44 ACVR1 BGLAP BMP2 BMP4 BMP7 BRCA2

Drugs & Therapeutics for Osseous Heteroplasia, Progressive

Drugs for Osseous Heteroplasia, Progressive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
2 Narcotics Phase 4
3 Antipyretics Phase 4
4
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
5
Histamine Approved, Investigational Phase 3 51-45-6 774
6
Ketotifen Approved Phase 3 34580-13-7, 34580-14-8 3827
7 Neurotransmitter Agents Phase 3
8 Anti-Allergic Agents Phase 3
9 Histamine H1 Antagonists Phase 3
10 Histamine Antagonists Phase 3
11 Dermatologic Agents Phase 3
12
Histamine Phosphate Phase 3 51-74-1 65513
13
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
14
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
15
Saracatinib Investigational Phase 2 379231-04-6
16 sodium thiosulfate Phase 2
17
Indomethacin Approved, Investigational 53-86-1 3715
18
Pantoprazole Approved 102625-70-7 4679
19
Meloxicam Approved, Vet_approved 71125-38-7 54677470 5281106
20
Lidocaine Approved, Vet_approved 137-58-6 3676
21
Ibuprofen Approved 15687-27-1 3672
22
Celecoxib Approved, Investigational 169590-42-5 2662
23
Acetaminophen Approved 103-90-2 1983
24
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
25
Gabapentin Approved, Investigational 60142-96-3 3446
26
Zopiclone Approved 43200-80-2 5735
27
Pancrelipase Approved, Investigational 53608-75-6
28
Uric acid Investigational 69-93-2 1175
29
Fibrinolysin Investigational 9004-09-5
30 Antacids
31 Anti-Ulcer Agents
32 Gastrointestinal Agents
33 Proton Pump Inhibitors
34 Tocolytic Agents
35 Protective Agents
36 Cyclooxygenase 2 Inhibitors
37 Acetaminophen, hydrocodone drug combination
38 Excitatory Amino Acid Antagonists
39 Hypnotics and Sedatives
40 Psychotropic Drugs
41 Anti-Anxiety Agents
42 Anticonvulsants
43 pancreatin

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Effect of Etoricoxib (Arcoxia) in Preventing Heterotopic Ossification After Total Hip Arthroplasty Completed NCT01022190 Phase 4 Etoricoxib (Arcoxia)
2 Multimodal Analgesia With Acetaminophen vs. Narcotics Alone After Hip Arthroscopy Completed NCT03510910 Phase 4 Acetaminophen;Percocet
3 Effectiveness of Naproxen for the Prevention of Heterotopic Ossification After Complex Elbow Trauma: a Prospective Randomized Trial Withdrawn NCT00586365 Phase 4 Naproxen
4 Use of Etoricoxib Compared to Diclofenac in the Perioperative Treatment of Patients After Total Hip Arthroplasty, a Prospective, Double Blind, Phase III Study Completed NCT01229774 Phase 3 Etoricoxib;Diclofenac
5 A Prospective, Randomized, Controlled Clinical Investigation Comparing PCM® Cervical Disc Arthroplasty to Anterior Cervical Discectomy and Fusion: 2 Year Results From the US IDE Clinical Trial Completed NCT00578812 Phase 3
6 PrEvention of Posttraumatic Joint contractuRes With Ketotifen 2 Recruiting NCT03582176 Phase 3 Lactose Placebo;Ketotifen Fumarate 2mg;Ketotifen Fumarate 5mg
7 A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT03312634 Phase 3 Palovarotene
8 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of a RARγ-Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Completed NCT02190747 Phase 2 Palovarotene;Placebo
9 Saracatinib Trial TO Prevent FOP Recruiting NCT04307953 Phase 2 AZD0530 Difumarate;Matching placebo
10 A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARγ Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02279095 Phase 2 Palovarotene dose level 1;Palovarotene dose level 2;Palovarotene dose level 3;Palovarotene dose level 4
11 A Randomized, Placebo-controlled Study to Assess the Safety, Tolerability, Pharmacokinetics, and Effects on Heterotopic Bone Formation of REGN2477 in Patients With Fibrodysplasia Ossificans Progressiva Active, not recruiting NCT03188666 Phase 2 REGN2477;Matching placebo
12 A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARγ-Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Active, not recruiting NCT02979769 Phase 2 Palovarotene dose level 1;Palovarotene dose level 2
13 Subcutaneous Injection of Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Suspended NCT03582800 Phase 2 STS
14 A Phase 2, In-Home, Safety and Efficacy Evaluation of Episodic Administration of Open-Label Palovarotene in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Terminated NCT02521792 Phase 2 Palovarotene
15 Clinical and Mechanistic Demonstration of a Bioelectric Dressing System for Non-healing Wound Management: A Phase II Randomized Trial Terminated NCT01784887 Phase 1, Phase 2 Procellera
16 Prophylaxis of Heterotopic Ossification (HO) in Wartime Extremity Injuries, a Randomized Clinical Trial Unknown status NCT01631669 Celecoxib
17 Indomethacin Prophylaxis for Heterotopic Ossification After Surgical Treatment of Elbow Trauma: A Randomized Prospective Double-blinded Study. Unknown status NCT01744314 Indomethacin and Pantoprazole;microcrystalline cellulose powder tablets
18 Evaluation on Efficacy of Total Artificial Disc Replacement (TDR) of Cervical Spondylosis: a Cohort Prospective Follow-up for 5 Years Unknown status NCT03364816
19 The Efficacy of Telerehabilitation Program for Improvement of Upper Limb Function Among Adults Post Elbow Fractures Unknown status NCT02713958
20 The Influence of Non-steroid Antiinflammatory Drugs (NSAID) to Heal Colles Fracture. Unknown status NCT01606540 Tablets Ibumetin and placebo;Tablets Ibumetin and placebo
21 A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Completed NCT02322255
22 Urine Sample Collection From Patients With Fibrodysplasia Ossificans Progressiva (FOP) for Biomarker Analysis Completed NCT02066324
23 Assessment of Heterotopic Ossification of Elbow Joint in Relation of Serum Uric Acid: a Retrospective Study. Completed NCT03925688
24 Uncemented Hemiarthroplasty, Radiological Features Comparing Lateral Versus Anterolateral Approach: A Follow-up of a Randomized Controlled Trial. Completed NCT03974698
25 Activ C Disc Prosthesis European Multi-Center Clinical Investigation Completed NCT02492724
26 A Prospective Randomized Controlled Trial of Open Arthrolysis Versus Non-surgical Treatment for Elbow Stiffness Completed NCT03015415
27 FOP Connection: A Global Registry for the Fibrodysplasia Ossificans Progressiva Community Recruiting NCT02745158
28 Prophylaxis Low-Dose Radiation Therapy for Heterotopic Ossification in Distal Humerus Fractures Recruiting NCT03724422
29 Short-Term Outcome of Surgical Treatment of Osteochondral Impaction in Acetabular Fractures Recruiting NCT03152266
30 Treatment of Ectopic Calcification / Ossification With Sodium Thiosulfate (CATSSO) Recruiting NCT03979378
31 Preoperative Evaluation of Neurogenic Myositis Ossificans or Neurogenic Para-osteo-arthritis: Comparison Between Computed Tomography and Magnetic Resonance Imaging in Preoperative Evaluation Recruiting NCT03832556
32 ORCHID: Osteotomy vs Resection in CP Hip for Irreducible Dislocations: A Randomized Controlled Trial Comparing McHale to Castle Techniques Recruiting NCT02259140
33 Efficacy of Multimodal Analgesia Following Hip Arthroscopy Recruiting NCT03351439 Zopiclone;Gabapentin;Celebrex;Percocet;Naprosyn
34 Effect of Extracorporeal Shock Wave Therapy on Chronic Neurogenic Heterotopic Ossification in Traumatic Brain Injured Patients Active, not recruiting NCT02331628
35 Influence of Naproxen on Heterotropic Bone Formation Following Hip Arthroscopy Active, not recruiting NCT01539447 Early Phase 1 Naproxen;placebo
36 Pre-surgical CT Scan Assessment of Femoral Head Bone Mineral Density Before Resection of Neurogenic Heterotopic Ossification (NHO) of the Hip Active, not recruiting NCT03914521
37 Disorders of the Acute Phase Response Accelerated by Plasmin Activation Following Trauma and Invasive Surgery: A Prospective Study Enrolling by invitation NCT03741023
38 The Causes of Heterotopic Ossification in Abdominal Incision After Pancreatic Surgery:A Single-center Prospective Study Not yet recruiting NCT04049461
39 Radiation Therapy for Heterotopic Ossification Prophylaxis Acutely After Elbow Trauma Terminated NCT00991887
40 Evaluation of Circulating Osteogenic Factors in Trauma Patients (BMP-9) Terminated NCT01433536
41 Study Into the Effect of Pamidronate for the Prevention of Heterotopic Ossification in High-risk Patients: A Randomized Controlled Trial Withdrawn NCT00262392 Pamidronate (AREDIA)

Search NIH Clinical Center for Osseous Heteroplasia, Progressive

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Etidronate
Etidronate Disodium

Cochrane evidence based reviews: osseous heteroplasia, progressive

Genetic Tests for Osseous Heteroplasia, Progressive

Genetic tests related to Osseous Heteroplasia, Progressive:

# Genetic test Affiliating Genes
1 Progressive Osseous Heteroplasia 29 GNAS

Anatomical Context for Osseous Heteroplasia, Progressive

MalaCards organs/tissues related to Osseous Heteroplasia, Progressive:

40
Bone, Skin, Skeletal Muscle, Brain, Spinal Cord, Thyroid, T Cells

Publications for Osseous Heteroplasia, Progressive

Articles related to Osseous Heteroplasia, Progressive:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Progressive osseous heteroplasia in the face of a child. 6 56 54 61
12605446 2003
2
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. 54 6 56 61
11784876 2002
3
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. 56 6 61
18553568 2008
4
GNAS locus and pseudohypoparathyroidism. 6 56
15711092 2005
5
GNAS1 mutations and progressive osseous heteroplasia. 61 6 54
12024004 2002
6
Disorders of GNAS Inactivation 61 6
29072892 2017
7
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. 61 56
11092390 2000
8
Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues. 56 61
10998448 2000
9
Progressive osseous heteroplasia. Report of a family. 56 61
9768883 1998
10
Progressive osseous heteroplasia in male patients. Two new case reports. 56 61
7671486 1995
11
Progressive osseous heteroplasia: a case report. 61 56
7980957 1994
12
Hemimelic progressive osseous heteroplasia. A case report. 61 56
8200899 1994
13
Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. 56 61
8126048 1994
14
GNAS1 mutational analysis in pseudohypoparathyroidism. 6
9876352 1998
15
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. 6
8557265 1996
16
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. 6
1505964 1992
17
Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis. 56
1621772 1992
18
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. 6
2122458 1990
19
Familial ectopic ossification. 56
3126297 1988
20
Hereditary osteoma cutis. 56
6887189 1983
21
Osteoma cutis and Albright's hereditary osteodystrophy. 56
5002319 1971
22
Connective tissue ossification presenting in the skin. 56
5911503 1966
23
Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. 61 54
20480732 2010
24
Reduction in Gsalpha induces osteogenic differentiation in human mesenchymal stem cells. 54 61
15864058 2005
25
Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. 61 54
14723729 2004
26
GNAS1 mutations and progressive osseous heteroplasia. 54 61
12030264 2002
27
Progressive osseous heteroplasia. 61 54
11092391 2000
28
GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. 61 54
11092389 2000
29
A Novel Spindle Cell Population in a Case of Primary Osteoma Cutis With GNAS Mutation. 61
31977320 2020
30
Ossification of the superficial radial nerve causing pain: an unusual case of progressive osseous heteroplasia. 61
32125757 2020
31
Differential Vascularity in Genetic and Nonhereditary Heterotopic Ossification. 61
31250694 2019
32
Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients. 61
31546270 2019
33
Inactivating PTH/PTHrP Signaling Disorders. 61
30641531 2019
34
Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs). 61
30665554 2018
35
Progressive osseous heteroplasia in a Chinese infant and a novel mutation in the GNAS gene. 61
29224258 2018
36
Progressive osseous heteroplasia caused by a mosaic GNAS mutation. 61
29464731 2018
37
Pseudohypoparathyroidism. 61
29125274 2018
38
Acquired and congenital forms of heterotopic ossification: new pathogenic insights and therapeutic opportunities. 61
29614433 2018
39
A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings. 61
29320714 2018
40
GNAS mutations and heterotopic ossification. 61
28889026 2018
41
Gαs signaling controls intramembranous ossification during cranial bone development by regulating both Hedgehog and Wnt/β-catenin signaling. 61
30479847 2018
42
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history». 61
28073519 2017
43
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network. 61
27401862 2016
44
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network. 61
27428667 2016
45
Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia. 61
27517079 2016
46
Progressive osseous heteroplasia in a 7-year-old girl with osteoma cutis and autoimmune thyroiditis: the importance of investigating GNAS mutations. 61
25752801 2016
47
Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis. 61
27058263 2016
48
Progressive osseous heteroplasia and scoliosis. 61
26193686 2015
49
[Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history]. 61
25865609 2015
50
Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. 61
25894639 2015

Variations for Osseous Heteroplasia, Progressive

ClinVar genetic disease variations for Osseous Heteroplasia, Progressive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAS NM_001077488.4(GNAS):c.728del (p.Thr243fs)deletion Pathogenic 15929 20:57484745-57484745 20:58909690-58909690
2 GNAS NM_001077488.4(GNAS):c.568_571del (p.Asp190fs)deletion Pathogenic 15938 rs587776829 20:57484249-57484252 20:58909194-58909197
3 GNAS GNAS, 1-BP DEL, 348Cdeletion Pathogenic 15949
4 GNAS GNAS, 2-BP DEL, 860TGdeletion Pathogenic 15952
5 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs)deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291
6 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
7 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
8 FAM111B NM_198947.4(FAM111B):c.1462del (p.Cys488fs)deletion Likely pathogenic 599012 rs1565191262 11:58893032-58893032 11:59125559-59125559
9 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=)SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465
10 GNAS NM_080425.3(GNAS):c.1455C>A (p.Ala485=)SNV Benign 417936 rs55890501 20:57429775-57429775 20:58854720-58854720

UniProtKB/Swiss-Prot genetic disease variations for Osseous Heteroplasia, Progressive:

73
# Symbol AA change Variation ID SNP ID
1 GNAS p.Trp281Arg VAR_031880

Expression for Osseous Heteroplasia, Progressive

Search GEO for disease gene expression data for Osseous Heteroplasia, Progressive.

Pathways for Osseous Heteroplasia, Progressive

Pathways related to Osseous Heteroplasia, Progressive according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

Pathways related to Osseous Heteroplasia, Progressive according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 NOG BMP7 BMP4 ACVR1
2
Show member pathways
12.18 NOG GNAS BMP7 BMP4 BMP2 ACVR1
3 12.06 SPARC BMP7 BMP4 ACVR1
4 11.78 RUNX2 PTH GNAS BGLAP
5 11.56 GNAS BMP7 BMP4 BMP2
6
Show member pathways
11.56 BMP7 BMP4 BMP2
7
Show member pathways
11.53 RUNX2 NOG BMP7 BMP2
8 11.45 RUNX2 NOG BMP4
9 11.44 RUNX2 PTH ENPP1 BMP7
10 11.33 NOG BMP7 BMP4 BMP2 ACVR1
11 11.31 RUNX2 PTH BGLAP
12 11.2 SPARC RUNX2 PTH NOG BMP7 BMP4
13 11.05 RUNX2 PTH GNAS BGLAP
14 11.01 BMP7 BMP4 BMP2
15 10.92 BMP7 BMP4 BMP2
16 10.69 PTH BGLAP
17 10.58 BMP7 ACVR1

GO Terms for Osseous Heteroplasia, Progressive

Cellular components related to Osseous Heteroplasia, Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 SPARC PTH NOG ENPP1 C1S BMP7
2 extracellular region GO:0005576 9.36 SPARC PTH NOG GNAS FRK ENPP1
3 BMP receptor complex GO:0070724 8.96 BMP2 ACVR1

Biological processes related to Osseous Heteroplasia, Progressive according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.24 RUNX2 PTH NOG BMP7 BMP4 BMP2
2 cell differentiation GO:0030154 10.2 RUNX2 NOG FRK BMP7 BMP4 BMP2
3 positive regulation of transcription, DNA-templated GO:0045893 10.14 RUNX2 BRCA2 BMP7 BMP4 BMP2 ACVR1
4 positive regulation of gene expression GO:0010628 10.1 RUNX2 NOG BMP7 BMP4 BMP2
5 heart development GO:0007507 10.01 SPARC BMP4 BMP2 ACVR1
6 response to ethanol GO:0045471 9.9 SPARC PTH BGLAP
7 positive regulation of neuron differentiation GO:0045666 9.9 BMP7 BMP4 BMP2
8 osteoblast differentiation GO:0001649 9.89 RUNX2 NOG BMP4 BMP2 BGLAP
9 bone development GO:0060348 9.87 SPARC GNAS BMP4 BGLAP
10 SMAD protein signal transduction GO:0060395 9.86 BMP7 BMP4 BMP2
11 odontogenesis of dentin-containing tooth GO:0042475 9.86 RUNX2 BMP7 BMP4 BMP2
12 positive regulation of cell differentiation GO:0045597 9.85 BMP7 BMP4 BMP2
13 ossification GO:0001503 9.85 SPARC RUNX2 BMP7 BMP4 BMP2 BGLAP
14 negative regulation of cell cycle GO:0045786 9.84 BMP7 BMP4 BMP2
15 positive regulation of epithelial to mesenchymal transition GO:0010718 9.83 BMP7 BMP4 BMP2
16 chondrocyte differentiation GO:0002062 9.83 RUNX2 BMP4 BMP2
17 epithelial to mesenchymal transition GO:0001837 9.83 NOG BMP7 BMP2
18 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.83 BMP7 BMP4 BMP2 ACVR1
19 cartilage development GO:0051216 9.83 NOG GNAS BMP7 BMP4 BMP2
20 ureteric bud development GO:0001657 9.82 NOG BMP7 BMP4
21 cellular response to growth factor stimulus GO:0071363 9.8 SPARC BMP4 BMP2 BGLAP ACVR1
22 embryonic cranial skeleton morphogenesis GO:0048701 9.79 RUNX2 GNAS BMP4
23 endochondral ossification GO:0001958 9.79 RUNX2 GNAS BMP4
24 mesoderm formation GO:0001707 9.78 NOG BMP7 BMP4 ACVR1
25 anatomical structure formation involved in morphogenesis GO:0048646 9.77 NOG BMP7 BMP4
26 response to vitamin D GO:0033280 9.77 PTH BMP7 BGLAP
27 endocardial cushion morphogenesis GO:0003203 9.76 NOG BMP2 ACVR1
28 positive regulation of ossification GO:0045778 9.75 PTH BMP4 BMP2
29 pharyngeal system development GO:0060037 9.73 BMP7 ACVR1
30 BMP signaling pathway GO:0030509 9.73 RUNX2 NOG BMP7 BMP4 BMP2 ACVR1
31 positive regulation of cartilage development GO:0061036 9.72 BMP4 BMP2
32 negative regulation of phosphorylation GO:0042326 9.72 BMP7 BMP4
33 smooth muscle cell differentiation GO:0051145 9.72 BMP4 ACVR1
34 regulation of ossification GO:0030278 9.72 RUNX2 ACVR1
35 embryonic skeletal joint morphogenesis GO:0060272 9.72 NOG BMP7 BMP4
36 positive regulation of bone mineralization GO:0030501 9.72 PTH BMP7 BMP4 BMP2 ACVR1
37 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 BMP2 ACVR1
38 atrioventricular valve morphogenesis GO:0003181 9.71 BMP2 ACVR1
39 mesonephros development GO:0001823 9.71 BMP7 BMP4
40 mesenchymal cell differentiation GO:0048762 9.71 NOG BMP7 BMP2
41 membranous septum morphogenesis GO:0003149 9.7 NOG BMP4
42 response to gravity GO:0009629 9.7 SPARC BGLAP
43 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.7 RUNX2 BMP2
44 pharyngeal arch artery morphogenesis GO:0061626 9.69 NOG BMP4
45 heart trabecula morphogenesis GO:0061384 9.69 NOG BMP7
46 negative regulation of mitotic nuclear division GO:0045839 9.69 BMP7 BMP4
47 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.69 RUNX2 BMP4 BMP2
48 telencephalon regionalization GO:0021978 9.68 BMP4 BMP2
49 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.68 BMP7 BMP4
50 response to parathyroid hormone GO:0071107 9.68 PTH GNAS

Molecular functions related to Osseous Heteroplasia, Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 8.96 BMP4 BMP2
2 BMP receptor binding GO:0070700 8.8 BMP7 BMP4 BMP2

Sources for Osseous Heteroplasia, Progressive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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