FBCG1
MCID: FBR025
MIFTS: 55

Fibrochondrogenesis (FBCG1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Fibrochondrogenesis

MalaCards integrated aliases for Fibrochondrogenesis:

Name: Fibrochondrogenesis 12 73 20 43 58 36 29 44 15 39 70
Fibrochondrogenesis 1 70
Fibrochondrogenesis 2 70
Fibrochondrogenesis-1 43
Fibrochondrogenesis-2 43
Fbcg1 43
Fbcg2 43

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060465
KEGG 36 H02080
MeSH 44 C562524
SNOMED-CT 67 17144009
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C0265282
Orphanet 58 ORPHA2021
UMLS 70 C0265282 C3278138 C3281128

Summaries for Fibrochondrogenesis

MedlinePlus Genetics : 43 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 skeletal dysplasias, 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 eye, tongue and bone marrow, 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.

GARD : 20 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.

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

Related Diseases for Fibrochondrogenesis

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 98)
# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 1 31.6 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
2 skeletal dysplasias 30.3 SOX9 COL2A1 COL11A2
3 myopia 28.5 FMOD COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 achondrogenesis 27.5 TRIP11 SLC35D1 FMOD COL9A3 COL9A2 COL9A1
5 odontochondrodysplasia 26.3 TRIP11 TGFB3 SOX9 SLC35D1 FMOD ENG
6 fibrochondrogenesis 2 11.6
7 bicipital tenosynovitis 10.3 ENG CD44
8 brachydactyly, type a1, b 10.3 BMP4 BMP2
9 kohler's disease 10.3 COL2A1 COL11A2 COL11A1
10 spondylolysis 10.3 BMP2 ACAN
11 ossification of the posterior longitudinal ligament of spine 10.2 COL11A2 BMP4 BMP2
12 dental pulp necrosis 10.2 ENG BMP2
13 retinal perforation 10.2 COL2A1 COL11A2 COL11A1
14 diffuse idiopathic skeletal hyperostosis 10.2 COL11A2 BMP4 BMP2
15 dyssegmental dysplasia, silverman-handmaker type 10.2 COL2A1 CD44 BMP2
16 fibrodysplasia ossificans progressiva 10.2 BMP6 BMP4 BMP2
17 tympanosclerosis 10.2 COL2A1 BMP2
18 exostosis 10.2 COL2A1 BMP2 ACAN
19 ischemic bone disease 10.2 COL2A1 BMP2 ACAN
20 juvenile nasopharyngeal angiofibroma 10.2 TGFB3 ENG BMP6
21 achondrogenesis, type ia 10.1 TRIP11 COL2A1
22 patella, chondromalacia of 10.1 COL2A1 ACAN
23 metatropic dysplasia 10.1 SOX9 COL2A1 COL11A2
24 stickler syndrome, type i 10.1 COL9A2 COL2A1 COL11A1
25 dwarfism 10.1
26 lethal chondrodysplasia 10.1
27 vitreoretinal degeneration 10.1 COL9A2 COL2A1 COL11A1
28 achondroplasia 10.1 SOX9 COL2A1 ACAN
29 osteonecrosis 10.1 ENG COL2A1 BMP6 BMP2
30 scheuermann disease 10.1 COL9A3 COL2A1
31 tracheomalacia 10.1 SOX9 COL2A1
32 macroglossia 10.1 COL9A1 COL2A1 COL11A1
33 cleidocranial dysplasia 10.1 SOX9 BMP2 ACAN
34 retinal lattice degeneration 10.0 COL9A3 COL2A1
35 bone disease 10.0 COL2A1 BMP6 BMP2 ACAN
36 spondylolisthesis 10.0 COL9A3 BMP2 ACAN
37 schneckenbecken dysplasia 10.0 TRIP11 SLC35D1 COL11A2 COL11A1
38 back pain 10.0 COL9A3 COL9A2
39 spondyloepimetaphyseal dysplasia 10.0 SOX9 COL2A1 ACAN
40 cartilage disease 10.0 SOX9 COL2A1 BMP2 ACAN
41 physical disorder 10.0 TGFB3 SOX9 BMP4
42 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL9A1 COL2A1 COL11A2 COL11A1
43 tracheal disease 9.9 SOX9 COL2A1
44 discitis 9.9 FMOD ACAN
45 intervertebral disc disease 9.9 COL9A3 COL9A2 COL11A1
46 connective tissue disease 9.9 COL2A1 COL11A2 COL11A1 BMP6 ACAN
47 brachydactyly 9.9 TRIP11 COL2A1 BMP2 ACAN
48 strabismus 9.9 COL9A1 COL2A1 COL11A1 BMP4
49 pulmonary hypertension 9.9 ENG BMP6 BMP4 BMP2
50 branchiootic syndrome 1 9.9

Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to Fibrochondrogenesis

Symptoms & Phenotypes for Fibrochondrogenesis

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 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
15 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
16 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
17 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
18 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
21 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
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 9.89 CD44 COL11A1
2 Decreased viability GR00249-S 9.89 COL11A1 COL9A1 FMOD SLC35D1 SOX9
3 Decreased viability GR00381-A-1 9.89 COL9A3
4 Decreased viability GR00381-A-2 9.89 COL9A3
5 Decreased viability GR00381-A-3 9.89 COL9A3
6 Decreased viability GR00386-A-1 9.89 COL11A1
7 Decreased viability GR00402-S-2 9.89 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 BMP4 CD44 COL11A1 COL11A2 COL24A1 COL27A1
2 growth/size/body region MP:0005378 10.27 BMP2 BMP4 BMP6 CD44 COL11A1 COL11A2
3 cardiovascular system MP:0005385 10.26 BMP2 BMP4 CD44 COL11A2 COL27A1 COL2A1
4 craniofacial MP:0005382 10.23 BMP2 BMP4 COL11A1 COL11A2 COL27A1 COL2A1
5 digestive/alimentary MP:0005381 10.13 BMP2 BMP4 CD44 COL11A1 COL2A1 ENG
6 limbs/digits/tail MP:0005371 10.1 BMP2 BMP4 CD44 COL11A1 COL27A1 COL2A1
7 embryo MP:0005380 10.06 BMP2 BMP4 COL11A1 COL27A1 COL2A1 ENG
8 hearing/vestibular/ear MP:0005377 9.97 BMP2 BMP4 COL11A1 COL11A2 COL2A1 COL9A1
9 normal MP:0002873 9.76 BMP2 BMP4 CD44 COL2A1 ENG SOX9
10 respiratory system MP:0005388 9.61 BMP4 CD44 COL11A1 COL27A1 COL2A1 ENG
11 skeleton MP:0005390 9.53 BMP2 BMP4 BMP6 CD44 COL11A1 COL11A2

Drugs & Therapeutics for Fibrochondrogenesis

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis

Cochrane evidence based reviews: fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

Genetic tests related to Fibrochondrogenesis:

# Genetic test Affiliating Genes
1 Fibrochondrogenesis 29

Anatomical Context for Fibrochondrogenesis

MalaCards organs/tissues related to Fibrochondrogenesis:

40
Eye, Tongue, Bone Marrow

Publications for Fibrochondrogenesis

Articles related to Fibrochondrogenesis:

(show top 50) (show all 51)
# 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. 61 6
21035103 2010
3
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. 6
25240749 2014
4
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 6
10486316 1999
5
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss. 61
32578940 2020
6
Nanofiber-based transforming growth factor-β3 release induces fibrochondrogenic differentiation of stem cells. 61
30862549 2019
7
Local Administration of Magnesium Promotes Meniscal Healing Through Homing of Endogenous Stem Cells: A Proof-of-Concept Study. 61
30786213 2019
8
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
9
Development of a Micronized Meniscus Extracellular Matrix Scaffold for Potential Augmentation of Meniscal Repair and Regeneration. 61
27824291 2016
10
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
11
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. 61
25091507 2014
12
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
13
Culture of equine fibroblast-like synoviocytes on synthetic tissue scaffolds towards meniscal tissue engineering: a preliminary cell-seeding study. 61
24765587 2014
14
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. 61
23922384 2013
15
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. 61
23906683 2013
16
Fibrochondrogenesis: prenatal diagnosis and outcome. 61
24127948 2013
17
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). 61
23621912 2013
18
Regulation of fibrochondrogenesis of mesenchymal stem cells in an integrated microfluidic platform embedded with biomimetic nanofibrous scaffolds. 61
23637803 2013
19
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? 61
23026214 2012
20
Variations in chondrogenesis of human bone marrow-derived mesenchymal stem cells in fibrin/alginate blended hydrogels. 61
22750738 2012
21
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. 61
21668896 2012
22
Fibrochondrogenesis, an antenatal and postnatal correlation. 61
22439129 2012
23
Evaluation of in vitro growth factor treatments on fibrochondrogenesis by synovial membrane cells from osteoarthritic and nonosteoarthritic joints of dogs. 61
21453151 2011
24
The influence of an aligned nanofibrous topography on human mesenchymal stem cell fibrochondrogenesis. 61
20494438 2010
25
Development of serum-free, chemically defined conditions for human embryonic stem cell-derived fibrochondrogenesis. 61
19231974 2009
26
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
27
Fibrochondrogenesis of hESCs: growth factor combinations and cocultures. 61
18454697 2009
28
Fibrochondrogenesis in two embryonic stem cell lines: effects of differentiation timelines. 61
18032702 2008
29
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
30
Effects of dynamic compressive load on collagen-based scaffolds seeded with fibroblast-like synoviocytes. 61
16846349 2006
31
Fibrochondrogenesis. 61
15876767 2005
32
Fibrochondrogenesis. 61
28386830 2005
33
Two sibs with fibrochondrogenesis. 61
15150788 2004
34
Metatropic dysplasia lethal variants. 61
14566438 2004
35
Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds. 61
15009938 2004
36
Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. 61
14605823 2003
37
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. 61
12769508 2003
38
Fetal fibrochondrogenesis at 26 weeks' gestation. 61
12224076 2002
39
[Fibrochondrogenesis]. 61
11462648 2001
40
[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis]. 61
10929597 2000
41
Recurrence of fibrochondrogenesis in a consanguineous family. 61
10327253 1999
42
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis. 61
9759906 1998
43
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. 61
9475607 1998
44
Fibrochondrogenesis: clinical and radiological features. 61
9134297 1997
45
A new case of fibrochondrogenesis from Spain. 61
8733059 1996
46
Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. 61
8030664 1994
47
Fibrochondrogenesis in male twins at 24 weeks gestation. 61
2012139 1991
48
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. 61
6507478 1984
49
Fibrochondrogenesis: radiologic and histologic studies. 61
6507479 1984
50
Pathogenic mechanisms in osteochondrodysplasias. 61
6376516 1984

Variations for Fibrochondrogenesis

ClinVar genetic disease variations for Fibrochondrogenesis:

6 (show top 50) (show all 343)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A1 NM_001854.4(COL11A1):c.1786dup (p.Ala596fs) Duplication Pathogenic 29646 rs730882190 GRCh37: 1:103471628-103471629
GRCh38: 1:103006072-103006073
2 COL11A1 NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg) SNV Pathogenic 29647 rs397514455 GRCh37: 1:103412440-103412440
GRCh38: 1:102946884-102946884
3 COL11A1 NM_001854.4(COL11A1):c.2350G>C (p.Gly784Arg) SNV Pathogenic 29648 rs387906611 GRCh37: 1:103455118-103455118
GRCh38: 1:102989562-102989562
4 COL11A1 NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) SNV Pathogenic 29649 rs1557812993 GRCh37: 1:103379943-103379943
GRCh38: 1:102914387-102914387
5 COL11A2 COL11A2, IVS18, 1-BP INS, +3 Insertion Pathogenic 29650 GRCh37:
GRCh38:
6 COL11A2 COL11A2, 9-BP DEL, NT2899 Deletion Pathogenic 29651 GRCh37:
GRCh38:
7 COL11A1 NM_001854.4(COL11A1):c.3978+1G>A SNV Pathogenic 801530 rs1570712889 GRCh37: 1:103379907-103379907
GRCh38: 1:102914351-102914351
8 COL11A1 NM_001854.4(COL11A1):c.3168+2_3168+12del Deletion Pathogenic 801531 rs1570877567 GRCh37: 1:103427410-103427420
GRCh38: 1:102961854-102961864
9 COL11A2 NM_080680.3(COL11A2):c.2083_2086AAGG[1] (p.Glu696fs) Microsatellite Pathogenic 807387 rs1583335192 GRCh37: 6:33144523-33144526
GRCh38: 6:33176746-33176749
10 COL11A1 NM_001854.4(COL11A1):c.1245+1G>A SNV Pathogenic 1029384 GRCh37: 1:103488297-103488297
GRCh38: 1:103022741-103022741
11 COL11A1 NM_001854.4(COL11A1):c.3816+2dup Duplication Pathogenic 1032776 GRCh37: 1:103381184-103381185
GRCh38: 1:102915628-102915629
12 COL11A1 NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) SNV Likely pathogenic 973212 GRCh37: 1:103488375-103488375
GRCh38: 1:103022819-103022819
13 COL11A1 NM_001854.4(COL11A1):c.3384+13T>G SNV Conflicting interpretations of pathogenicity 876730 GRCh37: 1:103405870-103405870
GRCh38: 1:102940314-102940314
14 COL11A2 NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) SNV Uncertain significance 907893 GRCh37: 6:33137252-33137252
GRCh38: 6:33169475-33169475
15 COL11A1 NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys) SNV Uncertain significance 1029386 GRCh37: 1:103343708-103343708
GRCh38: 1:102878152-102878152
16 COL11A2 NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) SNV Uncertain significance 356408 rs140266192 GRCh37: 6:33148889-33148889
GRCh38: 6:33181112-33181112
17 COL11A1 NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) SNV Uncertain significance 291548 rs141978499 GRCh37: 1:103544374-103544374
GRCh38: 1:103078818-103078818
18 COL11A1 NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) SNV Uncertain significance 876927 GRCh37: 1:103544224-103544224
GRCh38: 1:103078668-103078668
19 COL11A2 NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) SNV Uncertain significance 356400 rs745568808 GRCh37: 6:33143456-33143456
GRCh38: 6:33175679-33175679
20 COL11A1 NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) SNV Uncertain significance 93968 rs56230601 GRCh37: 1:103548420-103548420
GRCh38: 1:103082864-103082864
21 COL11A1 NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) SNV Uncertain significance 873960 GRCh37: 1:103453238-103453238
GRCh38: 1:102987682-102987682
22 COL11A1 NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) SNV Uncertain significance 393244 rs143531636 GRCh37: 1:103352503-103352503
GRCh38: 1:102886947-102886947
23 COL11A1 NM_001854.4(COL11A1):c.898-185T>C SNV Uncertain significance 1032777 GRCh37: 1:103491354-103491354
GRCh38: 1:103025798-103025798
24 COL11A2 NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) SNV Uncertain significance 391897 rs138045609 GRCh37: 6:33139071-33139071
GRCh38: 6:33171294-33171294
25 COL11A2 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) SNV Uncertain significance 198609 rs139116571 GRCh37: 6:33152819-33152819
GRCh38: 6:33185042-33185042
26 COL11A1 NM_001854.4(COL11A1):c.4087-4A>G SNV Uncertain significance 514876 rs137999403 GRCh37: 1:103364554-103364554
GRCh38: 1:102898998-102898998
27 COL11A1 NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) SNV Uncertain significance 681382 rs142506188 GRCh37: 1:103470018-103470018
GRCh38: 1:103004462-103004462
28 COL11A1 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) SNV Uncertain significance 198777 rs144884147 GRCh37: 1:103488522-103488522
GRCh38: 1:103022966-103022966
29 COL11A1 NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) SNV Uncertain significance 291518 rs768553239 GRCh37: 1:103405970-103405970
GRCh38: 1:102940414-102940414
30 COL11A2 NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) SNV Uncertain significance 282710 rs151319255 GRCh37: 6:33132638-33132638
GRCh38: 6:33164861-33164861
31 COL11A1 NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) SNV Uncertain significance 284750 rs202065765 GRCh37: 1:103345240-103345240
GRCh38: 1:102879684-102879684
32 COL11A1 NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) SNV Uncertain significance 291505 rs200496207 GRCh37: 1:103364248-103364248
GRCh38: 1:102898692-102898692
33 COL11A2 NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) SNV Uncertain significance 178325 rs147576338 GRCh37: 6:33137844-33137844
GRCh38: 6:33170067-33170067
34 COL11A2 NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) SNV Uncertain significance 809916 rs139350991 GRCh37: 6:33146477-33146477
GRCh38: 6:33178700-33178700
35 COL11A2 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) SNV Uncertain significance 194797 rs199866657 GRCh37: 6:33146725-33146725
GRCh38: 6:33178948-33178948
36 COL11A1 NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) SNV Uncertain significance 291535 rs149558726 GRCh37: 1:103481285-103481285
GRCh38: 1:103015729-103015729
37 COL11A1 NM_001854.4(COL11A1):c.-50A>G SNV Uncertain significance 291554 rs369810404 GRCh37: 1:103573784-103573784
GRCh38: 1:103108228-103108228
38 COL11A1 NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) SNV Uncertain significance 289661 rs143651470 GRCh37: 1:103388907-103388907
GRCh38: 1:102923351-102923351
39 COL11A1 NM_001854.4(COL11A1):c.1792-39ATG[11] Microsatellite Uncertain significance 166924 rs71752747 GRCh37: 1:103471456-103471457
GRCh38: 1:103005900-103005901
40 COL11A2 NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) SNV Uncertain significance 356383 rs141254777 GRCh37: 6:33133425-33133425
GRCh38: 6:33165648-33165648
41 COL11A1 NM_001854.4(COL11A1):c.3817-25_3817-24dup Duplication Uncertain significance 291508 rs34228277 GRCh37: 1:103380379-103380380
GRCh38: 1:102914823-102914824
42 COL11A1 NM_001854.4(COL11A1):c.1630-13T>C SNV Uncertain significance 291532 rs370547604 GRCh37: 1:103474085-103474085
GRCh38: 1:103008529-103008529
43 COL11A1 NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) SNV Uncertain significance 291517 rs370589018 GRCh37: 1:103405909-103405909
GRCh38: 1:102940353-102940353
44 COL11A2 NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) SNV Uncertain significance 226537 rs148262058 GRCh37: 6:33134299-33134299
GRCh38: 6:33166522-33166522
45 COL11A1 NM_001854.4(COL11A1):c.318A>G (p.Lys106=) SNV Uncertain significance 291549 rs150668398 GRCh37: 1:103544384-103544384
GRCh38: 1:103078828-103078828
46 COL11A1 NM_001854.4(COL11A1):c.898-15T>C SNV Uncertain significance 291541 rs200242905 GRCh37: 1:103491184-103491184
GRCh38: 1:103025628-103025628
47 COL11A2 NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) SNV Uncertain significance 286504 rs370966667 GRCh37: 6:33133401-33133401
GRCh38: 6:33165624-33165624
48 COL11A2 NM_080680.3(COL11A2):c.1612-10G>C SNV Uncertain significance 227260 rs182657680 GRCh37: 6:33146760-33146760
GRCh38: 6:33178983-33178983
49 COL11A1 NM_001854.4(COL11A1):c.3277-13A>C SNV Uncertain significance 258457 rs371455495 GRCh37: 1:103406003-103406003
GRCh38: 1:102940447-102940447
50 COL11A1 NM_001854.4(COL11A1):c.-231dup Duplication Uncertain significance 291560 rs886044983 GRCh37: 1:103573964-103573965
GRCh38: 1:103108408-103108409

Expression for Fibrochondrogenesis

Search GEO for disease gene expression data for Fibrochondrogenesis.

Pathways for Fibrochondrogenesis

Pathways related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 TGFB3 SOX9 COL9A3 COL9A2 COL9A1 COL2A1
2
Show member pathways
13.32 TGFB3 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1
3
Show member pathways
12.96 TGFB3 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1
4
Show member pathways
12.79 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5
Show member pathways
12.74 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
6 12.15 TGFB3 ENG BMP6 BMP4
7
Show member pathways
12.12 TGFB3 BMP6 BMP4 BMP2
8
Show member pathways
12.12 TGFB3 FMOD COL9A3 COL9A2 COL9A1 COL2A1
9
Show member pathways
12.09 COL9A3 COL9A2 COL9A1 COL2A1 CD44
10 12.06 TGFB3 BMP6 BMP4 BMP2
11 11.86 SOX9 COL2A1 ACAN
12 11.85 SOX9 COL2A1 COL11A2 BMP4
13 11.8 TGFB3 FMOD BMP6 BMP4 BMP2
14 11.79 TGFB3 SOX9 ENG COL2A1 CD44 BMP6
15 11.72 SOX9 CD44 BMP4 BMP2
16
Show member pathways
11.63 TGFB3 BMP4 BMP2
17 11.62 SOX9 COL2A1 BMP6 ACAN
18 11.61 TGFB3 BMP6 BMP4 BMP2
19 11.59 TGFB3 BMP6 BMP4 BMP2
20 11.55 TGFB3 FMOD COL9A3 COL9A2 COL9A1 ACAN
21 11.31 FMOD COL2A1 CD44 ACAN
22 11.3 COL9A3 COL9A2 COL9A1
23 10.94 COL2A1 BMP2
24
Show member pathways
10.94 FMOD ACAN
25 10.67 TGFB3 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1

GO Terms for Fibrochondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.21 TGFB3 FMOD COL9A3 COL9A2 COL9A1 COL2A1
2 extracellular space GO:0005615 10.17 TGFB3 FMOD ENG COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.91 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
4 collagen trimer GO:0005581 9.76 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
5 basement membrane GO:0005604 9.73 COL9A3 COL9A1 COL2A1 ACAN
6 extracellular matrix GO:0031012 9.65 FMOD COL9A3 COL9A2 COL9A1 COL2A1 COL27A1
7 collagen type IX trimer GO:0005594 9.58 COL9A3 COL9A2 COL9A1
8 collagen type XI trimer GO:0005592 9.46 COL11A2 COL11A1
9 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 positive regulation of protein phosphorylation GO:0001934 9.99 SOX9 ENG BMP4 BMP2
4 heart development GO:0007507 9.99 SOX9 ENG BMP4 BMP2 ACAN
5 osteoblast differentiation GO:0001649 9.92 COL11A2 BMP6 BMP4 BMP2
6 positive regulation of neuron differentiation GO:0045666 9.9 BMP6 BMP4 BMP2
7 cellular response to mechanical stimulus GO:0071260 9.89 SOX9 ENG BMP6
8 positive regulation of endothelial cell proliferation GO:0001938 9.88 BMP6 BMP4 BMP2
9 BMP signaling pathway GO:0030509 9.88 TGFB3 ENG BMP6 BMP4 BMP2
10 positive regulation of osteoblast differentiation GO:0045669 9.87 BMP6 BMP4 BMP2
11 cell fate commitment GO:0045165 9.87 SOX9 BMP4 BMP2
12 positive regulation of epithelial cell proliferation GO:0050679 9.87 SOX9 BMP6 BMP4
13 inner ear development GO:0048839 9.85 TGFB3 COL2A1 BMP2
14 positive regulation of epithelial to mesenchymal transition GO:0010718 9.85 TGFB3 BMP4 BMP2
15 epithelial to mesenchymal transition GO:0001837 9.84 SOX9 ENG BMP2
16 SMAD protein signal transduction GO:0060395 9.84 TGFB3 BMP6 BMP4 BMP2
17 skeletal system morphogenesis GO:0048705 9.83 COL2A1 COL11A2 COL11A1
18 bone development GO:0060348 9.83 TRIP11 ENG COL2A1 BMP4
19 collagen fibril organization GO:0030199 9.83 FMOD COL2A1 COL11A2 COL11A1 ACAN
20 branching involved in ureteric bud morphogenesis GO:0001658 9.82 SOX9 BMP4 BMP2
21 endochondral ossification GO:0001958 9.8 COL2A1 BMP6 BMP4
22 positive regulation of collagen biosynthetic process GO:0032967 9.8 TGFB3 ENG BMP4
23 positive regulation of bone mineralization GO:0030501 9.8 TGFB3 BMP6 BMP4 BMP2
24 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 TGFB3 ENG BMP6 BMP4 BMP2
25 ossification GO:0001503 9.8 SOX9 COL2A1 COL11A1 BMP6 BMP4 BMP2
26 chondrocyte differentiation GO:0002062 9.77 SOX9 COL2A1 COL11A2 BMP4 BMP2
27 tissue homeostasis GO:0001894 9.76 SOX9 COL2A1 COL11A2
28 cartilage condensation GO:0001502 9.76 SOX9 COL2A1 COL11A1 ACAN
29 skeletal system development GO:0001501 9.76 SOX9 COL9A2 COL2A1 COL11A2 BMP6 BMP4
30 chondrocyte development GO:0002063 9.75 SOX9 COL11A1 ACAN
31 negative regulation of chondrocyte differentiation GO:0032331 9.74 SOX9 BMP4
32 endocardial cushion morphogenesis GO:0003203 9.74 SOX9 ENG BMP2
33 cardiac muscle cell differentiation GO:0055007 9.73 BMP4 BMP2
34 positive regulation of endothelial cell differentiation GO:0045603 9.73 BMP6 BMP4
35 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 SOX9 BMP4
36 positive regulation of chondrocyte differentiation GO:0032332 9.73 SOX9 BMP6
37 positive regulation of ossification GO:0045778 9.73 BMP4 BMP2
38 positive regulation of cartilage development GO:0061036 9.73 SOX9 BMP4 BMP2
39 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.72 SOX9 BMP4
40 type B pancreatic cell development GO:0003323 9.72 BMP6 BMP4
41 keratan sulfate catabolic process GO:0042340 9.72 FMOD ACAN
42 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 ENG BMP4
43 positive regulation of SMAD protein signal transduction GO:0060391 9.72 TGFB3 BMP6 BMP4
44 limb bud formation GO:0060174 9.71 SOX9 COL2A1
45 smooth muscle tissue development GO:0048745 9.71 ENG BMP4
46 embryonic skeletal joint morphogenesis GO:0060272 9.71 COL2A1 BMP4
47 notochord development GO:0030903 9.7 SOX9 COL2A1
48 otic vesicle development GO:0071599 9.69 SOX9 COL2A1
49 proteoglycan metabolic process GO:0006029 9.69 COL2A1 COL11A1 BMP2
50 telencephalon regionalization GO:0021978 9.68 BMP4 BMP2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.67 TGFB3 BMP6 BMP4 BMP2
2 extracellular matrix structural constituent GO:0005201 9.61 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1
3 growth factor activity GO:0008083 9.56 TGFB3 BMP6 BMP4 BMP2
4 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.46 FMOD ACAN
5 co-receptor binding GO:0039706 9.43 BMP4 BMP2
6 type I transforming growth factor beta receptor binding GO:0034713 9.4 TGFB3 ENG
7 BMP receptor binding GO:0070700 9.33 BMP6 BMP4 BMP2
8 type II transforming growth factor beta receptor binding GO:0005114 9.32 TGFB3 ENG
9 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.23 COL9A3 COL9A2 COL9A1 COL2A1 COL27A1 COL24A1

Sources for Fibrochondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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