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FBCG1
MCID: FBR025
MIFTS: 48

Fibrochondrogenesis (FBCG1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Fibrochondrogenesis

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MalaCards integrated aliases for Fibrochondrogenesis:

Name: Fibrochondrogenesis 12 74 52 25 58 36 43 15 39 71
Fibrochondrogenesis 1 71
Fibrochondrogenesis 2 71
Fibrochondrogenesis-1 25
Fibrochondrogenesis-2 25
Fbcg1 25
Fbcg2 25

Characteristics:

Orphanet epidemiological data:

58
fibrochondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060465
KEGG 36 H02080
MeSH 43 C562524
SNOMED-CT 67 17144009
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C0265282
Orphanet 58 ORPHA2021
UMLS 71 C0265282 C3278138 C3281128
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Summaries for Fibrochondrogenesis

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Genetics Home Reference : 25 Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood. Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones in the arms and legs that are unusually wide at the ends (described as dumbbell-shaped). People with this condition also have a narrow chest with short, wide ribs and a round and prominent abdomen. The bones of the spine (vertebrae) are flattened (platyspondyly) and have a characteristic pinched or pear shape that is noticeable on x-rays. Other skeletal abnormalities associated with fibrochondrogenesis include abnormal curvature of the spine and underdeveloped hip (pelvic) bones. People with fibrochondrogenesis also have distinctive facial features. These include prominent eyes, low-set ears, a small mouth with a long upper lip, and a small chin (micrognathia). Affected individuals have a relatively flat-appearing midface, particularly a small nose with a flat nasal bridge and nostrils that open to the front rather than downward (anteverted nares). Vision problems, including severe nearsightedness (high myopia) and clouding of the lens of the eye (cataract), are common in those who survive infancy. Most affected individuals also have sensorineural hearing loss, which is caused by abnormalities of the inner ear.

MalaCards based summary : Fibrochondrogenesis, also known as fibrochondrogenesis 1, is related to fibrochondrogenesis 1 and myopia, and has symptoms including edema An important gene associated with Fibrochondrogenesis is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, eye and lung, and related phenotypes are short neck and short stature

Disease Ontology : 12 An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2021 Definition Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate , micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive . Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. Visit the Orphanet disease page for more resources.

KEGG : 36 Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently, It has been demonstrated that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.

Wikipedia : 74 Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal... more...

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Related Diseases for Fibrochondrogenesis

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Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

Diseases related to Fibrochondrogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 1 34.8 COL11A2 COL11A1
2 myopia 29.0 FMOD COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3 achondrogenesis 28.7 TRIP11 SLC35D1 COL9A3 COL9A2 COL9A1 COL2A1
4 odontochondrodysplasia 25.5 TRIP11 TGFB3 SOX9 SLC35D1 GDF5 FMOD
5 fibrochondrogenesis 2 12.8
6 dwarfism 10.4
7 skeletal dysplasias 10.4
8 lethal chondrodysplasia 10.4
9 avascular necrosis 10.3 COL2A1 BMP2
10 kohler's disease 10.3 COL2A1 COL11A2 COL11A1
11 ossification of the posterior longitudinal ligament of spine 10.3 COL11A2 BMP4 BMP2
12 bicipital tenosynovitis 10.3 ENG CD44
13 retinal perforation 10.3 COL2A1 COL11A2 COL11A1
14 joint laxity, short stature, and myopia 10.3
15 cleft soft palate 10.3 COL2A1 COL11A2 COL11A1
16 dyssegmental dysplasia, silverman-handmaker type 10.3 COL2A1 CD44 BMP2
17 dental pulp necrosis 10.2 ENG BMP2
18 juvenile nasopharyngeal angiofibroma 10.2 TGFB3 ENG BMP6
19 achondrogenesis, type ia 10.2 TRIP11 COL2A1
20 achondroplasia 10.2 SOX9 COL2A1 ACAN
21 bullous keratopathy 10.2 TGFB3 BMP4 BMP2
22 vitreoretinal degeneration 10.2 COL9A2 COL2A1 COL11A1
23 hypertrophic scars 10.1 TGFB3 BMP6
24 macroglossia 10.1 COL9A1 COL2A1 COL11A1
25 tympanosclerosis 10.1 COL2A1 BMP2
26 branchiootic syndrome 1 10.1
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
28 autosomal recessive disease 10.1
29 cleft tongue 10.1
30 osteonecrosis 10.1 ENG COL2A1 BMP6 BMP2
31 ischemic bone disease 10.1 ENG COL2A1 BMP2 ACAN
32 caffey disease 10.1 SLC35D1 COL2A1 COL27A1 COL11A2
33 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL9A1 COL2A1 COL11A2 COL11A1
34 cartilage disease 10.0 SOX9 COL2A1 BMP2 ACAN
35 scheuermann disease 10.0 COL9A3 COL2A1
36 physical disorder 10.0 TGFB3 SOX9 BMP4
37 tracheomalacia 10.0 SOX9 COL2A1
38 back pain 9.9 COL9A3 COL9A2
39 schneckenbecken dysplasia 9.9 TRIP11 SLC35D1 COL2A1 COL11A2 COL11A1
40 connective tissue disease 9.9 COL2A1 COL11A2 COL11A1 BMP6 ACAN
41 strabismus 9.9 COL9A1 COL2A1 COL11A1 BMP4
42 achondrogenesis, type ii 9.9 FMOD COL2A1 COL27A1 COL11A2
43 brittle bone disorder 9.9 SOX9 ENG COL2A1 BMP2 ACAN
44 brachydactyly, type a1, b 9.9 GDF5 BMP4 BMP2
45 synovial chondromatosis 9.9 TGFB3 SOX9 COL2A1 BMP4 BMP2
46 proximal symphalangism 9.8 GDF5 BMP4 BMP2
47 retinal detachment 9.8 COL9A2 COL9A1 COL2A1 COL11A1
48 boomerang dysplasia 9.8 TRIP11 SLC35D1
49 brachydactyly, type a2 9.8 GDF5 BMP4 BMP2
50 ankylosis 9.8 GDF5 BMP4 BMP2

Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to Fibrochondrogenesis
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Symptoms & Phenotypes for Fibrochondrogenesis

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Human phenotypes related to Fibrochondrogenesis:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 broad ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000885
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
8 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
9 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
10 wide anterior fontanel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000260
11 abnormal diaphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000940
12 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
13 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
14 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
15 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
16 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
17 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
18 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
21 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
22 hypoplastic fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001804
23 hypoplastic scapulae 58 31 frequent (33%) Frequent (79-30%) HP:0000882
24 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
25 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
26 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
27 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
28 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
29 abnormality of the ribs 58 Very frequent (99-80%)

UMLS symptoms related to Fibrochondrogenesis:


edema

GenomeRNAi Phenotypes related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.91 CD44 COL11A1
2 Decreased viability GR00249-S 9.91 COL11A1 COL9A1 FMOD SLC35D1 SOX9
3 Decreased viability GR00381-A-1 9.91 COL9A3
4 Decreased viability GR00381-A-2 9.91 COL9A3
5 Decreased viability GR00381-A-3 9.91 COL9A3
6 Decreased viability GR00386-A-1 9.91 COL11A1 GDF5
7 Decreased viability GR00402-S-2 9.91 BMP2 BMP4 COL9A2 COL9A3 SOX9 TRIP11
8 Increased the percentage of infected cells GR00402-S-1 8.62 CD44 COL27A1

MGI Mouse Phenotypes related to Fibrochondrogenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 BMP2 BMP4 BMP6 CD44 COL11A1 COL11A2
2 craniofacial MP:0005382 10.23 BMP2 BMP4 COL11A1 COL11A2 COL27A1 COL2A1
3 behavior/neurological MP:0005386 10.22 BMP4 CD44 COL11A2 COL24A1 COL2A1 COL9A2
4 digestive/alimentary MP:0005381 10.13 BMP2 BMP4 CD44 COL11A1 COL2A1 ENG
5 limbs/digits/tail MP:0005371 10.1 BMP2 BMP4 CD44 COL11A1 COL27A1 COL2A1
6 embryo MP:0005380 10.06 BMP2 BMP4 COL27A1 COL2A1 ENG GDF5
7 hearing/vestibular/ear MP:0005377 9.97 BMP2 BMP4 COL11A1 COL11A2 COL2A1 COL9A1
8 normal MP:0002873 9.76 BMP2 BMP4 CD44 COL2A1 ENG SOX9
9 respiratory system MP:0005388 9.61 BMP4 CD44 COL11A1 COL27A1 COL2A1 ENG
10 skeleton MP:0005390 9.53 BMP2 BMP4 BMP6 CD44 COL11A1 COL11A2
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Drugs & Therapeutics for Fibrochondrogenesis

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Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis

Cochrane evidence based reviews: fibrochondrogenesis

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Genetic Tests for Fibrochondrogenesis

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Anatomical Context for Fibrochondrogenesis

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MalaCards organs/tissues related to Fibrochondrogenesis:

40
Bone, Eye, Lung, Tongue, Small Intestine
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Publications for Fibrochondrogenesis

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Articles related to Fibrochondrogenesis:

(show all 49)
# Title Authors PMID Year
1
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 6 61
22246659 2012
2
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. 6 61
21035103 2010
3
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss. 61
32578940 2020
4
Nanofiber-based transforming growth factor-β3 release induces fibrochondrogenic differentiation of stem cells. 61
30862549 2019
5
Local Administration of Magnesium Promotes Meniscal Healing Through Homing of Endogenous Stem Cells: A Proof-of-Concept Study. 61
30786213 2019
6
The mechanical impact of col11a2 loss on joints; col11a2 mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritis. 61
30249781 2018
7
Development of a Micronized Meniscus Extracellular Matrix Scaffold for Potential Augmentation of Meniscal Repair and Regeneration. 61
27824291 2016
8
High-purity magnesium interference screws promote fibrocartilaginous entheses regeneration in the anterior cruciate ligament reconstruction rabbit model via accumulation of BMP-2 and VEGF. 61
26713681 2016
9
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. 61
25091507 2014
10
Culture of equine fibroblast-like synoviocytes on synthetic tissue scaffolds towards meniscal tissue engineering: a preliminary cell-seeding study. 61
24765587 2014
11
Culture of canine synoviocytes on porcine intestinal submucosa scaffolds as a strategy for meniscal tissue engineering for treatment of meniscal injury in dogs. 61
24360729 2014
12
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. 61
23922384 2013
13
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. 61
23906683 2013
14
Fibrochondrogenesis: prenatal diagnosis and outcome. 61
24127948 2013
15
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). 61
23621912 2013
16
Regulation of fibrochondrogenesis of mesenchymal stem cells in an integrated microfluidic platform embedded with biomimetic nanofibrous scaffolds. 61
23637803 2013
17
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? 61
23026214 2012
18
Variations in chondrogenesis of human bone marrow-derived mesenchymal stem cells in fibrin/alginate blended hydrogels. 61
22750738 2012
19
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. 61
21668896 2012
20
Fibrochondrogenesis, an antenatal and postnatal correlation. 61
22439129 2012
21
Evaluation of in vitro growth factor treatments on fibrochondrogenesis by synovial membrane cells from osteoarthritic and nonosteoarthritic joints of dogs. 61
21453151 2011
22
The influence of an aligned nanofibrous topography on human mesenchymal stem cell fibrochondrogenesis. 61
20494438 2010
23
Development of serum-free, chemically defined conditions for human embryonic stem cell-derived fibrochondrogenesis. 61
19231974 2009
24
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. 61
19508970 2009
25
Fibrochondrogenesis of hESCs: growth factor combinations and cocultures. 61
18454697 2009
26
Fibrochondrogenesis in two embryonic stem cell lines: effects of differentiation timelines. 61
18032702 2008
27
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
28
Effects of dynamic compressive load on collagen-based scaffolds seeded with fibroblast-like synoviocytes. 61
16846349 2006
29
Fibrochondrogenesis. 61
28386830 2005
30
Fibrochondrogenesis. 61
15876767 2005
31
Two sibs with fibrochondrogenesis. 61
15150788 2004
32
Metatropic dysplasia lethal variants. 61
14566438 2004
33
Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds. 61
15009938 2004
34
Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. 61
14605823 2003
35
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. 61
12769508 2003
36
Fetal fibrochondrogenesis at 26 weeks' gestation. 61
12224076 2002
37
[Fibrochondrogenesis]. 61
11462648 2001
38
[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis]. 61
10929597 2000
39
Recurrence of fibrochondrogenesis in a consanguineous family. 61
10327253 1999
40
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis. 61
9759906 1998
41
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. 61
9475607 1998
42
Fibrochondrogenesis: clinical and radiological features. 61
9134297 1997
43
A new case of fibrochondrogenesis from Spain. 61
8733059 1996
44
Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. 61
8030664 1994
45
Fibrochondrogenesis in male twins at 24 weeks gestation. 61
2012139 1991
46
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. 61
6507478 1984
47
Fibrochondrogenesis: radiologic and histologic studies. 61
6507479 1984
48
Pathogenic mechanisms in osteochondrodysplasias. 61
6376516 1984
49
[Fibrochondrogenesis]. 61
749746 1978
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Variations for Fibrochondrogenesis

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Expression for Fibrochondrogenesis

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Search GEO for disease gene expression data for Fibrochondrogenesis.
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Pathways for Fibrochondrogenesis

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Pathways related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.67 TGFB3 SOX9 GDF5 COL9A3 COL9A2 COL9A1
2
Integrin Pathway 63
Show member pathways
 13.32 TGFB3 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1
3
Phospholipase-C Pathway 63
Show member pathways
 12.9 TGFB3 GDF5 COL9A3 COL9A2 COL9A1 COL2A1
4
Focal Adhesion 36 1
Show member pathways
 12.83 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5
Collagen chain trimerization 65
Show member pathways
 12.76 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
6
NF-KappaB Family Pathway 63
Show member pathways
 12.64 TGFB3 GDF5 BMP6 BMP4 BMP2
7
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.32 TGFB3 GDF5 BMP6 BMP4 BMP2
8
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.2 TGFB3 GDF5 BMP6 BMP4 BMP2
9
Wnt / Hedgehog / Notch 4
12.17 TGFB3 ENG BMP6 BMP4
10
Degradation of the extracellular matrix 65
Show member pathways
 12.15 TGFB3 GDF5 FMOD COL9A3 COL9A2 COL9A1
11
Hippo signaling pathway 36
12.1 TGFB3 GDF5 BMP6 BMP4 BMP2
12
ECM-receptor interaction 36
Show member pathways
 12.09 COL9A3 COL9A2 COL9A1 COL2A1 CD44
13
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.93 TGFB3 SOX9 GDF5 ENG COL2A1 CD44
14
Spinal Cord Injury 1
11.88 SOX9 COL2A1 ACAN
15
Neural Crest Differentiation 1
11.87 SOX9 COL2A1 COL11A2 BMP4
16
TGF-beta signaling pathway (KEGG) 36
11.85 TGFB3 GDF5 FMOD BMP6 BMP4 BMP2
17
Neural Stem Cells and Lineage-specific Markers 64
11.75 SOX9 CD44 BMP4 BMP2
18
Elastic fibre formation 65
Show member pathways
 11.7 TGFB3 GDF5 BMP4 BMP2
19
G-protein signaling_RhoA regulation pathway 22
11.66 TGFB3 GDF5 BMP6 BMP4 BMP2
20
Transcription_P53 signaling pathway 22
11.64 TGFB3 BMP6 BMP4 BMP2
21
Endochondral Ossification 1
11.64 SOX9 COL2A1 BMP6 ACAN
22
ECM proteoglycans 65
11.6 TGFB3 FMOD COL9A3 COL9A2 COL9A1 ACAN
23
Differentiation Pathway 1
11.46 TGFB3 GDF5 BMP4
24
NCAM1 interactions 65
11.31 COL9A3 COL9A2 COL9A1
25
Articular Cartilage Extracellular Matrix 64
11.31 FMOD COL2A1 CD44 ACAN
26
G-protein signaling_Rap2B regulation pathway 22
10.7 TGFB3 GDF5 COL9A3 COL9A2 COL9A1 COL2A1
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GO Terms for Fibrochondrogenesis

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Cellular components related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.24 TGFB3 GDF5 FMOD COL9A3 COL9A2 COL9A1
2 extracellular space GO:0005615 10.13 TGFB3 GDF5 FMOD ENG COL9A3 COL9A2
3 endoplasmic reticulum lumen GO:0005788 9.97 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
4 extracellular matrix GO:0031012 9.85 FMOD COL9A3 COL9A2 COL9A1 COL2A1 COL27A1
5 collagen type IX trimer GO:0005594 9.58 COL9A3 COL9A2 COL9A1
6 collagen trimer GO:0005581 9.56 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
7 collagen type XI trimer GO:0005592 9.43 COL11A2 COL11A1
8 collagen-containing extracellular matrix GO:0062023 9.36 TGFB3 FMOD COL9A3 COL9A2 COL9A1 COL2A1

Biological processes related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.11 SOX9 ENG BMP6 BMP4 BMP2
2 negative regulation of gene expression GO:0010629 10.03 SOX9 ENG BMP4 BMP2
3 heart development GO:0007507 10.01 SOX9 ENG BMP4 BMP2 ACAN
4 positive regulation of protein phosphorylation GO:0001934 9.99 SOX9 ENG BMP4 BMP2
5 osteoblast differentiation GO:0001649 9.93 COL11A2 BMP6 BMP4 BMP2
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.91 TGFB3 GDF5 ENG
7 positive regulation of neuron differentiation GO:0045666 9.91 GDF5 BMP6 BMP4 BMP2
8 cellular response to mechanical stimulus GO:0071260 9.89 SOX9 ENG BMP6
9 positive regulation of endothelial cell proliferation GO:0001938 9.88 BMP6 BMP4 BMP2
10 cell fate commitment GO:0045165 9.88 SOX9 BMP4 BMP2
11 negative regulation of epithelial cell proliferation GO:0050680 9.88 SOX9 GDF5 BMP4
12 SMAD protein signal transduction GO:0060395 9.88 TGFB3 GDF5 BMP6 BMP4 BMP2
13 ossification GO:0001503 9.88 SOX9 COL2A1 COL11A1 BMP6 BMP4 BMP2
14 positive regulation of epithelial cell proliferation GO:0050679 9.87 SOX9 BMP6 BMP4
15 positive regulation of osteoblast differentiation GO:0045669 9.87 BMP6 BMP4 BMP2
16 inner ear development GO:0048839 9.86 TGFB3 COL2A1 BMP2
17 skeletal system morphogenesis GO:0048705 9.85 COL2A1 COL11A2 COL11A1
18 collagen fibril organization GO:0030199 9.85 FMOD COL2A1 COL11A2 COL11A1 ACAN
19 positive regulation of epithelial to mesenchymal transition GO:0010718 9.84 TGFB3 BMP4 BMP2
20 epithelial to mesenchymal transition GO:0001837 9.84 SOX9 ENG BMP2
21 bone development GO:0060348 9.84 TRIP11 ENG COL2A1 BMP4
22 branching involved in ureteric bud morphogenesis GO:0001658 9.83 SOX9 BMP4 BMP2
23 chondrocyte differentiation GO:0002062 9.83 SOX9 COL2A1 COL11A2 BMP4 BMP2
24 positive regulation of BMP signaling pathway GO:0030513 9.82 GDF5 ENG BMP4
25 endochondral ossification GO:0001958 9.81 COL2A1 BMP6 BMP4
26 positive regulation of bone mineralization GO:0030501 9.81 TGFB3 BMP6 BMP4 BMP2
27 cartilage condensation GO:0001502 9.8 SOX9 COL2A1 COL11A1 ACAN
28 BMP signaling pathway GO:0030509 9.8 TGFB3 GDF5 ENG BMP6 BMP4 BMP2
29 positive regulation of collagen biosynthetic process GO:0032967 9.79 TGFB3 ENG BMP4
30 tissue homeostasis GO:0001894 9.77 SOX9 COL2A1 COL11A2
31 negative regulation of chondrocyte differentiation GO:0032331 9.77 SOX9 GDF5 BMP4
32 cellular response to BMP stimulus GO:0071773 9.77 SOX9 COL2A1 BMP6 BMP4 BMP2
33 chondrocyte development GO:0002063 9.76 SOX9 COL11A1 ACAN
34 skeletal system development GO:0001501 9.76 SOX9 COL9A2 COL2A1 COL11A2 BMP6 BMP4
35 positive regulation of chondrocyte differentiation GO:0032332 9.75 SOX9 GDF5 BMP6
36 positive regulation of endothelial cell differentiation GO:0045603 9.74 BMP6 BMP4
37 endocardial cushion morphogenesis GO:0003203 9.74 SOX9 ENG BMP2
38 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 SOX9 BMP4
39 positive regulation of ossification GO:0045778 9.73 BMP4 BMP2
40 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.73 SOX9 BMP4
41 smooth muscle tissue development GO:0048745 9.73 ENG BMP4
42 positive regulation of cartilage development GO:0061036 9.73 SOX9 BMP4 BMP2
43 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.73 TGFB3 GDF5 ENG BMP6 BMP4 BMP2
44 type B pancreatic cell development GO:0003323 9.72 BMP6 BMP4
45 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 ENG BMP4
46 keratan sulfate catabolic process GO:0042340 9.72 FMOD ACAN
47 limb bud formation GO:0060174 9.72 SOX9 COL2A1
48 notochord development GO:0030903 9.72 SOX9 COL2A1
49 positive regulation of SMAD protein signal transduction GO:0060391 9.72 TGFB3 BMP6 BMP4
50 embryonic skeletal joint morphogenesis GO:0060272 9.71 COL2A1 BMP4

Molecular functions related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.72 TGFB3 GDF5 BMP6 BMP4 BMP2
2 extracellular matrix structural constituent GO:0005201 9.61 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
3 growth factor activity GO:0008083 9.55 TGFB3 GDF5 BMP6 BMP4 BMP2
4 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.48 FMOD ACAN
5 co-receptor binding GO:0039706 9.46 BMP4 BMP2
6 BMP binding GO:0036122 9.43 GDF5 ENG
7 BMP receptor binding GO:0070700 9.43 BMP6 BMP4 BMP2
8 type I transforming growth factor beta receptor binding GO:0034713 9.4 TGFB3 ENG
9 type II transforming growth factor beta receptor binding GO:0005114 9.37 TGFB3 ENG
10 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.23 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
Sources

Sources for Fibrochondrogenesis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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