MCID: OSS012
MIFTS: 56

Osseous Heteroplasia, Progressive

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

Aliases & Classifications for Osseous Heteroplasia, Progressive

MalaCards integrated aliases for Osseous Heteroplasia, Progressive:

Name: Osseous Heteroplasia, Progressive 57 13
Progressive Osseous Heteroplasia 76 53 25 59 75 37 29 6
Poh 57 53 25 59 75
Osteoma Cutis 57 25 55 73
Familial Ectopic Ossification 53 59
Heterotopic Ossification 25 73
Fibrodysplasia Ossificans Progressiva 73
Ectopic Ossification Familial Type 53
Heteroplasia, Osseous, Progressive 40
Myositis Ossificans Progressiva 25
Ectopic Ossification, Familial 57
Ossification Heterotopic 55
Cutaneous Ossification 25
Ectopic Ossification 25
Osteosis Cutis 25
Osteodermia 25

Characteristics:

Orphanet epidemiological data:

59
progressive osseous heteroplasia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
osseous heteroplasia, progressive:
Onset and clinical course variable expressivity infantile onset juvenile onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osseous Heteroplasia, Progressive

NIH Rare Diseases : 53 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 fibrodysplasia ossificans progressiva, and has symptoms including polydipsia and muscle weakness. An important gene associated with Osseous Heteroplasia, Progressive is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Calcium signaling pathway and Degradation of the extracellular matrix. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are osteoarthritis and subcutaneous nodule

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 58)
# Related Disease Score Top Affiliating Genes
1 ossification of the posterior longitudinal ligament of spine 30.2 ACVR1 BGLAP BMP2 BMP4 ENPP1 RUNX2
2 fibrodysplasia ossificans progressiva 29.8 ACVR1 BMP4 NOG
3 aloi tomasini isaia syndrome 11.4
4 greenberg dysplasia 11.1
5 osteitis fibrosa 10.4 BGLAP GNAS
6 fibrochondrogenesis 10.3 BMP2 BMP4
7 spondylolisthesis 10.3 BMP2 BMP7
8 tendinopathy 10.3 DCN ENPP1
9 pseudohypoparathyroidism 10.3
10 alveolar periostitis 10.3 BGLAP RUNX2
11 hypophosphatasia, adult 10.2 BGLAP ENPP1
12 pseudohypoparathyroidism, type ib 10.2 BGLAP GNAS
13 tooth ankylosis 10.1 BMP2 SPARC
14 bone deterioration disease 10.1 BMP2 BMP7
15 fibrosarcomatous osteosarcoma 10.1 BGLAP SPARC
16 histoplasmosis 10.0
17 pseudohypoparathyroidism, type ia 10.0
18 papillary cystadenocarcinoma 10.0 BGLAP SPARC
19 glucocorticoid-induced osteoporosis 10.0 BGLAP BMP2 RUNX2
20 ischemic bone disease 10.0 BGLAP BMP2 RUNX2
21 bone resorption disease 10.0 BGLAP BMP2 RUNX2
22 pseudoxanthoma elasticum 10.0
23 pseudopseudohypoparathyroidism 10.0
24 hypothyroidism 10.0
25 cutis laxa 10.0
26 bone remodeling disease 10.0 BGLAP BMP2 RUNX2
27 otosclerosis 9.9 BMP2 BMP4 NOG
28 periosteal osteogenic sarcoma 9.9 BGLAP SPARC
29 choroiditis 9.9
30 punctate inner choroidopathy 9.9
31 peripheral osteosarcoma 9.9 GNAS SPARC
32 bone fracture 9.9 BGLAP BMP2
33 bullous keratopathy 9.8 BMP2 BMP4
34 epidermolytic hyperkeratosis 9.8
35 strabismus 9.8
36 rothmund-thomson syndrome 9.8
37 congenital hypothyroidism 9.8
38 albright's hereditary osteodystrophy 9.8
39 anodontia 9.8
40 ochronosis 9.8
41 thyroiditis 9.8
42 exogenous ochronosis 9.8
43 neonatal hypothyroidism 9.8
44 nephrogenic systemic fibrosis 9.8
45 craniosynostosis 9.8 BMP2 NOG RUNX2
46 fibrous dysplasia 9.8 BGLAP GNAS SPARC
47 aortic valve disease 2 9.7 BMP2 RUNX2 SPARC
48 brachydactyly 9.6 BMP2 GNAS NOG RUNX2
49 synovial chondromatosis 9.6 BMP2 BMP4 NOG RUNX2
50 hypophosphatasia 9.6 ALPP ENPP1 RUNX2

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



Diseases related to Osseous Heteroplasia, Progressive

Symptoms & Phenotypes for Osseous Heteroplasia, Progressive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osseous Heteroplasia, Progressive:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
2 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
3 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
4 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
5 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
6 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
7 hypermelanotic macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001034
8 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034
9 ectopic ossification in muscle tissue 59 32 frequent (33%) Frequent (79-30%) HP:0011987
10 abnormality of the parathyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0000828
11 ectopic calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0010766
12 growth delay 32 HP:0001510
13 abnormality of the musculature 32 HP:0003011
14 macule 59 Occasional (29-5%)
15 abnormality of the skin 32 HP:0000951
16 osteoma 32 HP:0100246

UMLS symptoms related to Osseous Heteroplasia, Progressive:


polydipsia, muscle weakness

MGI Mouse Phenotypes related to Osseous Heteroplasia, Progressive:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 ACVR1 BMP2 BMP7 BMP4 ENPP1 NOG
2 craniofacial MP:0005382 10.2 BMP7 BMP2 BMP4 DCN ACVR1 NOG
3 cardiovascular system MP:0005385 10.17 BMP4 ACVR1 BMP2 BMP7 GNAS ENPP1
4 cellular MP:0005384 10.16 BMP4 ACVR1 BMP2 GNAS DCN ENPP1
5 homeostasis/metabolism MP:0005376 10.15 ACVR1 BMP4 BMP2 GNAS DCN ENPP1
6 digestive/alimentary MP:0005381 10.08 ACVR1 BMP2 BMP7 BMP4 NOG DCN
7 immune system MP:0005387 10.08 ACVR1 BMP2 BMP7 GNAS DCN ENPP1
8 integument MP:0010771 10.06 BMP7 BMP4 ENPP1 NOG GNAS DCN
9 mortality/aging MP:0010768 10.06 BMP4 ACVR1 BMP2 BMP7 GNAS DCN
10 hearing/vestibular/ear MP:0005377 10.05 ACVR1 BMP7 BMP2 BMP4 ENPP1 NOG
11 limbs/digits/tail MP:0005371 10.03 BMP7 BMP2 BMP4 ACVR1 NOG GNAS
12 nervous system MP:0003631 9.92 BMP4 ACVR1 BMP2 BMP7 GNAS ENPP1
13 muscle MP:0005369 9.91 BMP4 ACVR1 DCN ENPP1 NOG GNAS
14 renal/urinary system MP:0005367 9.73 BMP4 BMP7 GNAS DCN ENPP1 NOG
15 skeleton MP:0005390 9.65 BMP7 BMP2 BMP4 ACVR1 ENPP1 NOG
16 respiratory system MP:0005388 9.63 BMP4 BMP7 GNAS DCN NOG RUNX2
17 vision/eye MP:0005391 9.17 BMP4 BMP7 DCN ENPP1 NOG RUNX2

Drugs & Therapeutics for Osseous Heteroplasia, Progressive

Search Clinical Trials , NIH Clinical Center for Osseous Heteroplasia, Progressive

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Bone, Skin, Skeletal Muscle, Thyroid

Publications for Osseous Heteroplasia, Progressive

Articles related to Osseous Heteroplasia, Progressive:

(show all 34)
# Title Authors Year
1
Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis. ( 27058263 )
2016
2
Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia. ( 27517079 )
2016
3
Progressive osseous heteroplasia in a 7-year-old girl with osteoma cutis and autoimmune thyroiditis: the importance of investigating GNAS mutations. ( 25752801 )
2015
4
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. ( 25674011 )
2015
5
Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. ( 25894639 )
2015
6
Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. ( 24626099 )
2014
7
Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia. ( 24177476 )
2013
8
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. ( 23796510 )
2013
9
Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia. ( 23863715 )
2013
10
Progressive osseous heteroplasia in a 10-year-old male child. ( 21559111 )
2011
11
Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. ( 20480732 )
2010
12
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. ( 20427508 )
2010
13
Unilateral progressive osseous heteroplasia. ( 19213659 )
2009
14
A case of progressive osseous heteroplasia: a first case in Japan. ( 18309480 )
2008
15
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. ( 18553568 )
2008
16
Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report. ( 17321228 )
2007
17
Progressive osseous heteroplasia: a rare case of late onset. ( 17215262 )
2007
18
Progressive osseous heteroplasia controlled by intravenous administration of pamidronate. ( 16532474 )
2006
19
Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. ( 14723729 )
2004
20
Progressive osseous heteroplasia in the face of a child. ( 12605446 )
2003
21
GNAS1 mutations and progressive osseous heteroplasia. ( 12030264 )
2002
22
Progressive osseous heteroplasia. A case report and review of the literature. ( 12370587 )
2002
23
The genetic basis of progressive osseous heteroplasia. ( 11784882 )
2002
24
GNAS1 mutations and progressive osseous heteroplasia. ( 12024004 )
2002
25
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. ( 11784876 )
2002
26
Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues. ( 10998448 )
2000
27
Progressive osseous heteroplasia. ( 11092391 )
2000
28
Progressive osseous heteroplasia: a case report. ( 10028010 )
1999
29
Progressive osseous heteroplasia. Report of a family. ( 9768883 )
1998
30
Progressive osseous heteroplasia. ( 8678571 )
1996
31
Progressive osseous heteroplasia in male patients. Two new case reports. ( 7671486 )
1995
32
Progressive osseous heteroplasia, uncommon cause of soft tissue ossification: a case report and review of the literature. ( 8597867 )
1995
33
Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. ( 8126048 )
1994
34
Hemimelic progressive osseous heteroplasia. A case report. ( 8200899 )
1994

Variations for Osseous Heteroplasia, Progressive

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

75
# Symbol AA change Variation ID SNP ID
1 GNAS p.Trp281Arg VAR_031880

ClinVar genetic disease variations for Osseous Heteroplasia, Progressive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
2 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
3 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
4 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
5 GNAS GNAS, 2-BP DEL, 860TG deletion Pathogenic
6 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
7 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
8 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
9 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720

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:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 BMP2 BMP4 BMP7 DCN SPARC
2
Show member pathways
12.31 ACVR1 BMP4 BMP7 NOG
3
Show member pathways
12.27 ACVR1 BMP2 BMP4 BMP7
4 11.97 ACVR1 BMP4 BMP7 SPARC
5 11.94 BMP2 BMP4 BMP7
6
Show member pathways
11.88 ACVR1 BMP2 BMP4 BMP7 GNAS NOG
7 11.87 ALPP BMP4 NOG
8 11.84 BMP2 BMP4 BMP7
9 11.75 BGLAP GNAS RUNX2
10
Show member pathways
11.53 BMP2 BMP4 BMP7
11 11.47 BMP7 ENPP1 RUNX2
12 11.4 BMP4 NOG RUNX2
13
Show member pathways
11.31 BMP2 BMP7 NOG RUNX2
14 11.14 BGLAP GNAS RUNX2
15 11.12 BGLAP DCN
16 11.02 ACVR1 BMP2 BMP4 BMP7 DCN NOG
17 10.9 BMP2 BMP4 BMP7
18 10.78 BMP2 BMP4 BMP7
19 10.67 BMP2 DCN
20 10.58 ACVR1 BMP7

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 9.56 BGLAP BMP2 BMP4 BMP7 DCN ENPP1
2 vesicle GO:0031982 9.33 BGLAP BMP7 SPARC
3 extracellular region GO:0005576 9.28 BGLAP BMP2 BMP4 BMP7 DCN ENPP1

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

(show top 50) (show all 86)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 ACVR1 BMP2 BMP4 SPARC
2 positive regulation of cell migration GO:0030335 9.94 ACVR1 BMP2 BMP4
3 in utero embryonic development GO:0001701 9.93 ACVR1 BMP2 NOG
4 animal organ morphogenesis GO:0009887 9.9 BMP2 BMP7 DCN
5 kidney development GO:0001822 9.89 BMP4 BMP7 DCN
6 wound healing GO:0042060 9.89 DCN NOG SPARC
7 positive regulation of neuron differentiation GO:0045666 9.88 BMP2 BMP4 BMP7
8 odontogenesis of dentin-containing tooth GO:0042475 9.86 BMP2 BMP4 BMP7 RUNX2
9 SMAD protein signal transduction GO:0060395 9.85 BMP2 BMP4 BMP7
10 cell development GO:0048468 9.85 BMP2 BMP4 BMP7
11 regulation of MAPK cascade GO:0043408 9.85 BMP2 BMP4 BMP7
12 bone development GO:0060348 9.84 BGLAP BMP4 GNAS SPARC
13 positive regulation of cell differentiation GO:0045597 9.83 BMP2 BMP4 BMP7
14 positive regulation of epithelial to mesenchymal transition GO:0010718 9.83 BMP2 BMP4 BMP7
15 negative regulation of cell cycle GO:0045786 9.83 BMP2 BMP4 BMP7
16 cellular response to growth factor stimulus GO:0071363 9.83 BGLAP BMP2 BMP4 SPARC
17 ureteric bud development GO:0001657 9.82 BMP4 BMP7 NOG
18 chondrocyte differentiation GO:0002062 9.81 BMP2 BMP4 RUNX2
19 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.81 ACVR1 BMP2 BMP4 BMP7
20 epithelial to mesenchymal transition GO:0001837 9.8 BMP2 BMP7 NOG
21 osteoblast differentiation GO:0001649 9.8 BGLAP BMP2 BMP4 NOG RUNX2
22 BMP signaling pathway GO:0030509 9.8 ACVR1 BMP2 BMP4 BMP7 NOG RUNX2
23 embryonic cranial skeleton morphogenesis GO:0048701 9.79 BMP4 GNAS RUNX2
24 endochondral ossification GO:0001958 9.77 BMP4 GNAS RUNX2
25 cartilage development GO:0051216 9.77 BMP2 BMP4 BMP7 GNAS NOG
26 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.76 ACVR1 BMP4
27 bone mineralization GO:0030282 9.76 BGLAP BMP2
28 metanephros development GO:0001656 9.76 BMP4 BMP7
29 odontogenesis GO:0042476 9.76 BGLAP BMP4
30 biomineral tissue development GO:0031214 9.76 BGLAP ENPP1
31 ventricular septum morphogenesis GO:0060412 9.76 ACVR1 NOG
32 protein localization to nucleus GO:0034504 9.76 BMP4 BMP7
33 anatomical structure formation involved in morphogenesis GO:0048646 9.76 BMP4 BMP7 NOG
34 mesoderm formation GO:0001707 9.76 ACVR1 BMP4 BMP7 NOG
35 endoderm development GO:0007492 9.75 BMP4 NOG
36 pituitary gland development GO:0021983 9.75 BMP4 NOG
37 branching morphogenesis of an epithelial tube GO:0048754 9.75 BMP4 BMP7
38 embryonic hindlimb morphogenesis GO:0035116 9.75 BMP4 GNAS
39 cardiac muscle cell differentiation GO:0055007 9.75 BMP2 BMP4
40 endocardial cushion morphogenesis GO:0003203 9.75 ACVR1 BMP2 NOG
41 telencephalon development GO:0021537 9.74 BMP2 BMP4
42 outflow tract septum morphogenesis GO:0003148 9.74 ACVR1 BMP4
43 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.74 BMP2 BMP4
44 camera-type eye morphogenesis GO:0048593 9.74 BMP4 BMP7
45 lung morphogenesis GO:0060425 9.74 BMP4 NOG
46 regulation of bone mineralization GO:0030500 9.74 BGLAP ENPP1
47 embryonic skeletal joint morphogenesis GO:0060272 9.74 BMP4 BMP7 NOG
48 response to vitamin D GO:0033280 9.73 BGLAP BMP7
49 negative regulation of phosphorylation GO:0042326 9.73 BMP4 BMP7
50 osteoblast development GO:0002076 9.73 BGLAP RUNX2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.54 BMP2 BMP4 BMP7
2 growth factor activity GO:0008083 9.43 BMP2 BMP4 BMP7
3 extracellular matrix binding GO:0050840 9.32 DCN SPARC
4 co-receptor binding GO:0039706 9.16 BMP2 BMP4
5 transforming growth factor beta receptor binding GO:0005160 9.13 BMP2 BMP4 BMP7
6 BMP receptor binding GO:0070700 8.8 BMP2 BMP4 BMP7

Sources for Osseous Heteroplasia, Progressive

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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