POH
MCID: OSS012
MIFTS: 58

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 58 13
Progressive Osseous Heteroplasia 77 54 26 60 76 38 30 6
Poh 58 54 26 60 76
Osteoma Cutis 58 26 56 74
Familial Ectopic Ossification 54 60
Heterotopic Ossification 26 74
Ectopic Ossification 26 6
Fibrodysplasia Ossificans Progressiva 74
Ectopic Ossification Familial Type 54
Heteroplasia, Osseous, Progressive 41
Myositis Ossificans Progressiva 26
Ectopic Ossification, Familial 58
Ossification Heterotopic 56
Cutaneous Ossification 26
Osteosis Cutis 26
Osteodermia 26

Characteristics:

Orphanet epidemiological data:

60
progressive osseous heteroplasia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 : 54 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 fibrodysplasia ossificans progressiva and ossification of the posterior longitudinal ligament of spine, 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 Pathways in cancer. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are subcutaneous nodule and limitation of joint mobility

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 212)
# Related Disease Score Top Affiliating Genes
1 fibrodysplasia ossificans progressiva 33.8 ACVR1 BMP4 NOG
2 ossification of the posterior longitudinal ligament of spine 31.7 BGLAP BMP2 ENPP1 RUNX2
3 pseudoarthrosis 30.3 BMP2 BMP7
4 fibrous dysplasia 30.2 BGLAP GNAS SPARC
5 osteonecrosis 29.5 BGLAP BMP2 BMP7 RUNX2
6 brittle bone disorder 29.4 BGLAP DCN SPARC
7 ankylosis 29.3 ACVR1 BGLAP BMP2 BMP4 NOG RUNX2
8 greenberg dysplasia 11.3
9 myositis 11.2
10 myositis ossificans 11.2
11 spinal cord injury 10.5
12 burns 10.4
13 spondyloarthropathy 1 10.4
14 dermatomyositis 10.4
15 spondylitis 10.4
16 albright's hereditary osteodystrophy 10.3
17 guillain-barre syndrome 10.2
18 adenocarcinoma 10.2
19 histoplasmosis 10.2
20 mccune-albright syndrome 10.2
21 aplastic anemia 10.2
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
23 childhood type dermatomyositis 10.2
24 osteomalacia 10.2
25 rheumatic disease 10.2
26 brain injury 10.2
27 osteoarthritis 10.2
28 hemiplegia 10.2
29 scoliosis 10.2
30 bone fracture 10.2 BGLAP BMP2
31 osteitis fibrosa 10.1 BGLAP GNAS
32 horns in sheep 10.1
33 traumatic brain injury 10.1
34 paraplegia 10.1
35 neuropathy 10.1
36 decubitus ulcer 10.1
37 encephalitis 10.1
38 neurofibromatosis, type ii 10.1
39 pseudoxanthoma elasticum 10.1
40 hypothyroidism 10.1
41 cutis laxa 10.1
42 stapes ankylosis with broad thumbs and toes 10.1 BMP7 NOG
43 alveolar periostitis 10.1 BGLAP RUNX2
44 nasopharyngeal carcinoma 10.1
45 pseudopseudohypoparathyroidism 10.1
46 pseudohypoparathyroidism 10.1
47 punctate inner choroidopathy 10.1
48 tooth ankylosis 10.0 BMP2 SPARC
49 carpal tunnel syndrome 10.0
50 parkinson disease, late-onset 10.0

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:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
2 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
3 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
4 ectopic calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0010766
5 ectopic ossification in muscle tissue 60 33 frequent (33%) Frequent (79-30%) HP:0011987
6 osteoarthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002758
7 sarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0100242
8 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
9 hypermelanotic macule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001034
10 papule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200034
11 abnormality of the parathyroid gland 60 33 occasional (7.5%) Occasional (29-5%) HP:0000828
12 growth delay 33 HP:0001510
13 abnormality of the musculature 33 HP:0003011
14 macule 60 Occasional (29-5%)
15 osteoma 33 HP:0100246
16 ankylosis 33 HP:0031013
17 osteoma cutis 33 HP:0025027

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Osseous Heteroplasia, Progressive:

47 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ACVR1 BMP2 BMP4 BMP7 BRCA2 DCN
2 cellular MP:0005384 10.25 ACVR1 BMP2 BMP4 BRCA2 DCN ENPP1
3 craniofacial MP:0005382 10.24 ACVR1 BMP2 BMP4 BMP7 DCN GNAS
4 homeostasis/metabolism MP:0005376 10.24 ACVR1 BMP2 BMP4 BRCA2 DCN ENPP1
5 behavior/neurological MP:0005386 10.21 ACVR1 BMP4 BMP7 BRCA2 DCN ENPP1
6 cardiovascular system MP:0005385 10.21 ACVR1 BMP2 BMP4 BMP7 ENPP1 GNAS
7 digestive/alimentary MP:0005381 10.19 ACVR1 BMP2 BMP4 BMP7 BRCA2 DCN
8 limbs/digits/tail MP:0005371 10.19 ACVR1 BMP2 BMP4 BMP7 BRCA2 ENPP1
9 immune system MP:0005387 10.18 ACVR1 BMP2 BMP7 BRCA2 DCN ENPP1
10 mortality/aging MP:0010768 10.18 ACVR1 BMP2 BMP4 BMP7 BRCA2 DCN
11 integument MP:0010771 10.16 BMP4 BMP7 BRCA2 DCN ENPP1 GNAS
12 hematopoietic system MP:0005397 10.15 BMP2 BMP4 BMP7 BRCA2 DCN GNAS
13 endocrine/exocrine gland MP:0005379 10.12 BMP4 BMP7 BRCA2 DCN GNAS NOG
14 hearing/vestibular/ear MP:0005377 10.1 ACVR1 BMP2 BMP4 BMP7 ENPP1 GNAS
15 nervous system MP:0003631 10.06 ACVR1 BMP2 BMP4 BMP7 BRCA2 ENPP1
16 muscle MP:0005369 10 ACVR1 BMP4 DCN ENPP1 GNAS NOG
17 normal MP:0002873 9.91 BMP2 BMP4 BMP7 BRCA2 DCN GNAS
18 neoplasm MP:0002006 9.83 ACVR1 BRCA2 DCN GNAS SPARC
19 renal/urinary system MP:0005367 9.8 BMP4 BMP7 DCN ENPP1 GNAS NOG
20 reproductive system MP:0005389 9.8 BMP2 BMP4 BMP7 BRCA2 DCN NOG
21 skeleton MP:0005390 9.7 ACVR1 BMP2 BMP4 BMP7 BRCA2 DCN
22 respiratory system MP:0005388 9.63 BMP4 BMP7 DCN GNAS NOG RUNX2
23 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 74 / NDF-RT 52 :


Genetic Tests for Osseous Heteroplasia, Progressive

Genetic tests related to Osseous Heteroplasia, Progressive:

# Genetic test Affiliating Genes
1 Progressive Osseous Heteroplasia 30 GNAS

Anatomical Context for Osseous Heteroplasia, Progressive

MalaCards organs/tissues related to Osseous Heteroplasia, Progressive:

42
Bone, Skin, Skeletal Muscle, Thyroid, Brain, Spinal Cord, Bone Marrow

Publications for Osseous Heteroplasia, Progressive

Articles related to Osseous Heteroplasia, Progressive:

(show all 43)
# Title Authors Year
1
Progressive osseous heteroplasia in a Chinese infant and a novel mutation in the GNAS gene. ( 29224258 )
2018
2
Progressive osseous heteroplasia caused by a mosaic GNAS mutation. ( 29464731 )
2018
3
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history». ( 28073519 )
2017
4
Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia. ( 27517079 )
2016
5
Progressive osseous heteroplasia in a 7-year-old girl with osteoma cutis and autoimmune thyroiditis: the importance of investigating GNAS mutations. ( 25752801 )
2016
6
Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis. ( 27058263 )
2016
7
Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. ( 25894639 )
2015
8
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. ( 25674011 )
2015
9
Progressive osseous heteroplasia and scoliosis. ( 26193686 )
2015
10
Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. ( 24626099 )
2014
11
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. ( 23796510 )
2013
12
Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia. ( 23863715 )
2013
13
Progressive osseous heteroplasia in a 10-year-old male child. ( 21559111 )
2011
14
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. ( 20427508 )
2010
15
Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. ( 20480732 )
2010
16
Unilateral progressive osseous heteroplasia. ( 19213659 )
2009
17
A case of progressive osseous heteroplasia: a first case in Japan. ( 18309480 )
2008
18
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. ( 18553568 )
2008
19
Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report. ( 17321228 )
2007
20
Progressive osseous heteroplasia: a rare case of late onset. ( 17215262 )
2007
21
Progressive osseous heteroplasia controlled by intravenous administration of pamidronate. ( 16532474 )
2006
22
GNAS locus and pseudohypoparathyroidism. ( 15711092 )
2005
23
Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. ( 14723729 )
2004
24
Progressive osseous heteroplasia in the face of a child. ( 12605446 )
2003
25
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. ( 11784876 )
2002
26
The genetic basis of progressive osseous heteroplasia. ( 11784882 )
2002
27
GNAS1 mutations and progressive osseous heteroplasia. ( 12024004 )
2002
28
GNAS1 mutations and progressive osseous heteroplasia. ( 12030264 )
2002
29
Progressive osseous heteroplasia. A case report and review of the literature. ( 12370587 )
2002
30
Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues. ( 10998448 )
2000
31
Progressive osseous heteroplasia. ( 11092391 )
2000
32
Progressive osseous heteroplasia: a case report. ( 10028010 )
1999
33
GNAS1 mutational analysis in pseudohypoparathyroidism. ( 9876352 )
1998
34
Progressive osseous heteroplasia. Report of a family. ( 9768883 )
1998
35
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. ( 8557265 )
1996
36
Progressive osseous heteroplasia. ( 8678571 )
1996
37
Progressive osseous heteroplasia in male patients. Two new case reports. ( 7671486 )
1995
38
Progressive osseous heteroplasia, uncommon cause of soft tissue ossification: a case report and review of the literature. ( 8597867 )
1995
39
Progressive osseous heteroplasia: a case report. ( 7980957 )
1994
40
Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. ( 8126048 )
1994
41
Hemimelic progressive osseous heteroplasia. A case report. ( 8200899 )
1994
42
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. ( 1505964 )
1992
43
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. ( 2122458 )
1990

Variations for Osseous Heteroplasia, Progressive

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

76
# Symbol AA change Variation ID SNP ID
1 GNAS p.Trp281Arg VAR_031880

ClinVar genetic disease variations for Osseous Heteroplasia, Progressive:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
3 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
4 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
5 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
6 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
7 GNAS GNAS, 2-BP DEL, 860TG deletion Pathogenic
8 BRCA2 NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs) deletion Pathogenic rs80359473 GRCh37 Chromosome 13, 32913428: 32913431
9 BRCA2 NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs) deletion Pathogenic rs80359473 GRCh38 Chromosome 13, 32339291: 32339294
10 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
11 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh38 Chromosome 20, 58891811: 58891811
12 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
13 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
14 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
15 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
16 FAM111B NM_198947.4(FAM111B): c.1462del (p.Cys488Valfs) deletion Likely pathogenic GRCh37 Chromosome 11, 58893032: 58893032
17 FAM111B NM_198947.4(FAM111B): c.1462del (p.Cys488Valfs) deletion Likely pathogenic GRCh38 Chromosome 11, 59125559: 59125559

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:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1 12.64 BMP2 BMP4 BRCA2 GNAS
2
Show member pathways
12.48 BMP2 BMP4 BMP7 DCN SPARC
3
Show member pathways
12.31 ACVR1 BMP4 BMP7 NOG
4
Show member pathways
12.27 ACVR1 BMP2 BMP4 BMP7
5 11.97 ACVR1 BMP4 BMP7 SPARC
6 11.95 BMP2 BMP4 BMP7
7 11.88 ALPP BMP4 NOG
8
Show member pathways
11.88 ACVR1 BMP2 BMP4 BMP7 GNAS NOG
9 11.86 BMP2 BMP4 BMP7
10 11.76 BGLAP GNAS RUNX2
11 11.53 BMP2 BMP4 BMP7 GNAS
12
Show member pathways
11.53 BMP2 BMP4 BMP7
13 11.5 BMP2 BMP4 BMP7
14 11.47 BMP7 ENPP1 RUNX2
15 11.4 BMP4 NOG RUNX2
16
Show member pathways
11.31 BMP2 BMP7 NOG RUNX2
17 11.14 BGLAP GNAS RUNX2
18 11.07 ACVR1 BMP2 BMP4 BMP7 DCN NOG
19 11.01 BMP2 BMP4 BMP7
20 10.9 BMP2 BMP4 BMP7
21 10.82 BMP2 BMP4 BMP7 GNAS
22 10.78 BMP2 BMP4 BMP7
23 10.68 BMP2 DCN
24 10.59 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 80)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.99 ACVR1 BMP2 BMP4 SPARC
2 in utero embryonic development GO:0001701 9.93 ACVR1 BMP2 NOG
3 animal organ morphogenesis GO:0009887 9.9 BMP2 BMP7 DCN
4 kidney development GO:0001822 9.9 BMP4 BMP7 DCN
5 wound healing GO:0042060 9.89 DCN NOG SPARC
6 positive regulation of neuron differentiation GO:0045666 9.89 BMP2 BMP4 BMP7
7 cellular response to growth factor stimulus GO:0071363 9.87 BGLAP BMP2 BMP4 SPARC
8 pattern specification process GO:0007389 9.86 ACVR1 BMP7 NOG
9 cell development GO:0048468 9.86 BMP2 BMP4 BMP7
10 odontogenesis of dentin-containing tooth GO:0042475 9.86 BMP2 BMP4 BMP7 RUNX2
11 regulation of MAPK cascade GO:0043408 9.85 BMP2 BMP4 BMP7
12 SMAD protein signal transduction GO:0060395 9.85 BMP2 BMP4 BMP7
13 positive regulation of cell differentiation GO:0045597 9.84 BMP2 BMP4 BMP7
14 negative regulation of cell cycle GO:0045786 9.83 BMP2 BMP4 BMP7
15 positive regulation of epithelial to mesenchymal transition GO:0010718 9.83 BMP2 BMP4 BMP7
16 bone development GO:0060348 9.83 BGLAP BMP4 GNAS 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 embryonic cranial skeleton morphogenesis GO:0048701 9.8 BMP4 GNAS RUNX2
22 osteoblast differentiation GO:0001649 9.8 BGLAP BMP2 BMP4 NOG RUNX2
23 ossification GO:0001503 9.8 BGLAP BMP2 BMP4 BMP7 RUNX2 SPARC
24 endochondral ossification GO:0001958 9.77 BMP4 GNAS RUNX2
25 cartilage development GO:0051216 9.77 BMP2 BMP4 BMP7 GNAS NOG
26 endoderm development GO:0007492 9.76 BMP4 NOG
27 anatomical structure formation involved in morphogenesis GO:0048646 9.76 BMP4 BMP7 NOG
28 positive regulation of bone mineralization GO:0030501 9.76 ACVR1 BMP2 BMP4 BMP7
29 cell aging GO:0007569 9.75 BGLAP BRCA2
30 pituitary gland development GO:0021983 9.75 BMP4 NOG
31 telencephalon development GO:0021537 9.75 BMP2 BMP4
32 embryonic hindlimb morphogenesis GO:0035116 9.75 BMP4 GNAS
33 outflow tract septum morphogenesis GO:0003148 9.75 ACVR1 BMP4
34 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.75 BMP2 BMP4
35 branching morphogenesis of an epithelial tube GO:0048754 9.75 BMP4 BMP7
36 endocardial cushion morphogenesis GO:0003203 9.75 ACVR1 BMP2 NOG
37 cardiac muscle cell differentiation GO:0055007 9.74 BMP2 BMP4
38 camera-type eye morphogenesis GO:0048593 9.74 BMP4 BMP7
39 regulation of bone mineralization GO:0030500 9.74 BGLAP ENPP1
40 lung morphogenesis GO:0060425 9.74 BMP4 NOG
41 response to vitamin D GO:0033280 9.74 BGLAP BMP7
42 osteoblast development GO:0002076 9.74 BGLAP RUNX2
43 pharyngeal system development GO:0060037 9.73 ACVR1 BMP7
44 negative regulation of phosphorylation GO:0042326 9.73 BMP4 BMP7
45 positive regulation of cartilage development GO:0061036 9.73 BMP2 BMP4
46 positive regulation of ossification GO:0045778 9.73 BMP2 BMP4
47 mesoderm formation GO:0001707 9.73 ACVR1 BMP4 BMP7 NOG
48 BMP signaling pathway GO:0030509 9.73 ACVR1 BMP2 BMP4 BMP7 NOG RUNX2
49 regulation of ossification GO:0030278 9.72 ACVR1 RUNX2
50 smooth muscle cell differentiation GO:0051145 9.72 ACVR1 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.5 BMP2 BMP4 BMP7
2 extracellular matrix binding GO:0050840 9.37 DCN SPARC
3 co-receptor binding GO:0039706 9.16 BMP2 BMP4
4 transforming growth factor beta receptor binding GO:0005160 9.13 BMP2 BMP4 BMP7
5 BMP receptor binding GO:0070700 8.8 BMP2 BMP4 BMP7
6 protein binding GO:0005515 10.03 ACVR1 ALPP BMP2 BMP4 BMP7 BRCA2

Sources for Osseous Heteroplasia, Progressive

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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