MCID: FBR025
MIFTS: 50

Fibrochondrogenesis

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

Aliases & Classifications for Fibrochondrogenesis

MalaCards integrated aliases for Fibrochondrogenesis:

Name: Fibrochondrogenesis 12 72 49 24 55 28 13 41 14 69
Fibrochondrogenesis 1 69
Fibrochondrogenesis 2 69
Fibrochondrogenesis-1 24
Fibrochondrogenesis-2 24
Fbcg1 24
Fbcg2 24

Characteristics:

Orphanet epidemiological data:

55
fibrochondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:



Summaries for Fibrochondrogenesis

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2021Disease definitionFibrochondrogenesis 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. Last updated: 2/23/2005

MalaCards based summary : Fibrochondrogenesis, also known as fibrochondrogenesis 1, is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including narrow mouth, cleft palate and wide anterior fontanel. An important gene associated with Fibrochondrogenesis is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone, lung and eye, and related phenotypes are growth/size/body region and craniofacial

Genetics Home Reference : 24 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.

Wikipedia : 72 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

Related Diseases for Fibrochondrogenesis

Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to Fibrochondrogenesis

Symptoms & Phenotypes for Fibrochondrogenesis

Human phenotypes related to Fibrochondrogenesis:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000160
2 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
3 wide anterior fontanel 55 31 hallmark (90%) Very frequent (99-80%) HP:0000260
4 round face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000311
5 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
6 hearing abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000364
7 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
8 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
9 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
10 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
11 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
12 short ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000773
13 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
14 hypoplastic scapulae 55 31 frequent (33%) Frequent (79-30%) HP:0000882
15 broad ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000885
16 abnormal diaphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0000940
17 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
18 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
19 plagiocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001357
20 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
21 bell-shaped thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0001591
22 hypoplastic fingernail 55 31 frequent (33%) Frequent (79-30%) HP:0001804
23 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
24 micromelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002983
25 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
26 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
27 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
28 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
29 abnormality of the ribs 55 Very frequent (99-80%)

UMLS symptoms related to Fibrochondrogenesis:


edema

MGI Mouse Phenotypes related to Fibrochondrogenesis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 BMP2 BMP4 BMP6 CD44 COL11A1 COL11A2
2 craniofacial MP:0005382 9.85 BMP2 BMP4 COL11A1 COL11A2 ENG SLC35D1
3 digestive/alimentary MP:0005381 9.8 SLC35D1 BMP2 BMP4 CD44 COL11A1 ENG
4 hearing/vestibular/ear MP:0005377 9.46 BMP2 BMP4 COL11A1 COL11A2
5 limbs/digits/tail MP:0005371 9.35 BMP2 BMP4 CD44 COL11A1 SLC35D1
6 skeleton MP:0005390 9.17 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 28 COL11A1

Anatomical Context for Fibrochondrogenesis

MalaCards organs/tissues related to Fibrochondrogenesis:

38
Bone, Lung, Eye, Tongue, Small Intestine

Publications for Fibrochondrogenesis

Articles related to Fibrochondrogenesis:

(show all 26)
# Title Authors Year
1
Fibrochondrogenesis: Prenatal diagnosis and outcome. ( 24127948 )
2013
2
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. ( 23906683 )
2013
3
Regulation of fibrochondrogenesis of mesenchymal stem cells in an integrated microfluidic platform embedded with biomimetic nanofibrous scaffolds. ( 23637803 )
2013
4
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. ( 21668896 )
2012
5
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. ( 22246659 )
2012
6
Fibrochondrogenesis, an antenatal and postnatal correlation. ( 22439129 )
2012
7
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? ( 23026214 )
2012
8
Evaluation of in vitro growth factor treatments on fibrochondrogenesis by synovial membrane cells from osteoarthritic and nonosteoarthritic joints of dogs. ( 21453151 )
2011
9
The influence of an aligned nanofibrous topography on human mesenchymal stem cell fibrochondrogenesis. ( 20494438 )
2010
10
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. ( 21035103 )
2010
11
Development of serum-free, chemically defined conditions for human embryonic stem cell-derived fibrochondrogenesis. ( 19231974 )
2009
12
Fibrochondrogenesis of hESCs: growth factor combinations and cocultures. ( 18454697 )
2009
13
Fibrochondrogenesis in two embryonic stem cell lines: effects of differentiation timelines. ( 18032702 )
2008
14
Fibrochondrogenesis. ( 15876767 )
2005
15
Fibrochondrogenesis. ( 28386830 )
2005
16
Two sibs with fibrochondrogenesis. ( 15150788 )
2004
17
Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds. ( 15009938 )
2004
18
Fetal fibrochondrogenesis at 26 weeks' gestation. ( 12224076 )
2002
19
Recurrence of fibrochondrogenesis in a consanguineous family. ( 10327253 )
1999
20
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis. ( 9759906 )
1998
21
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. ( 9475607 )
1998
22
Fibrochondrogenesis: clinical and radiological features. ( 9134297 )
1997
23
A new case of fibrochondrogenesis from Spain. ( 8733059 )
1996
24
Fibrochondrogenesis in male twins at 24 weeks gestation. ( 2012139 )
1991
25
Fibrochondrogenesis: radiologic and histologic studies. ( 6507479 )
1984
26
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. ( 6507478 )
1984

Variations for Fibrochondrogenesis

ClinVar genetic disease variations for Fibrochondrogenesis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant risk factor rs1676486 GRCh37 Chromosome 1, 103354138: 103354138
2 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh37 Chromosome 1, 103471629: 103471629
3 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh37 Chromosome 1, 103412440: 103412440
4 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh37 Chromosome 1, 103455118: 103455118
5 COL11A1 COL11A1, GLY1315TER undetermined variant Pathogenic
6 COL11A2 COL11A2, IVS18, 1-BP INS, +3 insertion Pathogenic
7 COL11A2 COL11A2, 9-BP DEL, NT2899 deletion Pathogenic

Expression for Fibrochondrogenesis

Search GEO for disease gene expression data for Fibrochondrogenesis.

Pathways for Fibrochondrogenesis

GO Terms for Fibrochondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.43 BMP4 COL11A1 COL11A2
2 extracellular space GO:0005615 9.35 BMP2 BMP4 BMP6 COL11A1 ENG
3 endoplasmic reticulum lumen GO:0005788 9.33 BMP4 COL11A1 COL11A2
4 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.89 BMP2 BMP4 ENG
2 heart development GO:0007507 9.85 BMP2 BMP4 ENG
3 negative regulation of gene expression GO:0010629 9.84 BMP2 BMP4 ENG
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 BMP2 BMP4 CD44
5 positive regulation of protein phosphorylation GO:0001934 9.81 BMP2 BMP4 ENG
6 positive regulation of neuron differentiation GO:0045666 9.75 BMP2 BMP4 BMP6
7 positive regulation of endothelial cell proliferation GO:0001938 9.72 BMP2 BMP4 BMP6
8 collagen catabolic process GO:0030574 9.71 COL11A1 COL11A2
9 positive regulation of protein binding GO:0032092 9.71 BMP2 BMP4
10 positive regulation of epithelial cell proliferation GO:0050679 9.71 BMP4 BMP6
11 cell fate commitment GO:0045165 9.71 BMP2 BMP4
12 odontogenesis of dentin-containing tooth GO:0042475 9.71 BMP2 BMP4
13 SMAD protein signal transduction GO:0060395 9.71 BMP2 BMP4 BMP6
14 bone development GO:0060348 9.7 BMP4 ENG
15 cellular response to growth factor stimulus GO:0071363 9.7 BMP2 BMP4
16 embryonic skeletal system morphogenesis GO:0048704 9.7 BMP4 COL11A1
17 positive regulation of cell differentiation GO:0045597 9.7 BMP2 BMP4
18 positive regulation of osteoblast differentiation GO:0045669 9.7 BMP2 BMP4 BMP6
19 positive regulation of epithelial to mesenchymal transition GO:0010718 9.69 BMP2 BMP4
20 negative regulation of cell cycle GO:0045786 9.69 BMP2 BMP4
21 branching involved in ureteric bud morphogenesis GO:0001658 9.69 BMP2 BMP4
22 skeletal system morphogenesis GO:0048705 9.68 COL11A1 COL11A2
23 collagen fibril organization GO:0030199 9.68 COL11A1 COL11A2
24 embryonic skeletal system development GO:0048706 9.68 BMP4 SLC35D1
25 positive regulation of BMP signaling pathway GO:0030513 9.68 BMP4 ENG
26 cardiac muscle cell differentiation GO:0055007 9.67 BMP2 BMP4
27 skeletal system development GO:0001501 9.67 BMP2 BMP4 BMP6 COL11A2
28 telencephalon development GO:0021537 9.66 BMP2 BMP4
29 outflow tract septum morphogenesis GO:0003148 9.66 BMP4 ENG
30 endochondral ossification GO:0001958 9.65 BMP4 BMP6
31 positive regulation of collagen biosynthetic process GO:0032967 9.65 BMP4 ENG
32 chondrocyte differentiation GO:0002062 9.65 BMP2 BMP4 COL11A2
33 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.64 BMP2 BMP4
34 positive regulation of cartilage development GO:0061036 9.63 BMP2 BMP4
35 endocardial cushion morphogenesis GO:0003203 9.63 BMP2 ENG
36 cellular response to BMP stimulus GO:0071773 9.63 BMP2 BMP4 BMP6
37 positive regulation of ossification GO:0045778 9.62 BMP2 BMP4
38 positive regulation of endothelial cell differentiation GO:0045603 9.62 BMP4 BMP6
39 osteoblast differentiation GO:0001649 9.62 BMP2 BMP4 BMP6 COL11A2
40 positive regulation of SMAD protein import into nucleus GO:0060391 9.61 BMP4 BMP6
41 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 BMP4 ENG
42 type B pancreatic cell development GO:0003323 9.6 BMP4 BMP6
43 smooth muscle tissue development GO:0048745 9.59 BMP4 ENG
44 proteoglycan metabolic process GO:0006029 9.58 BMP2 COL11A1
45 positive regulation of bone mineralization GO:0030501 9.58 BMP2 BMP4 BMP6
46 telencephalon regionalization GO:0021978 9.57 BMP2 BMP4
47 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.56 BMP2 BMP4
48 ossification GO:0001503 9.56 BMP2 BMP4 BMP6 COL11A1
49 positive regulation of DNA-dependent DNA replication GO:2000105 9.51 BMP4 BMP6
50 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.49 BMP2 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.5 BMP2 BMP4 BMP6
2 growth factor activity GO:0008083 9.43 BMP2 BMP4 BMP6
3 extracellular matrix structural constituent GO:0005201 9.37 COL11A1 COL11A2
4 co-receptor binding GO:0039706 9.16 BMP2 BMP4
5 transforming growth factor beta receptor binding GO:0005160 9.13 BMP2 BMP4 BMP6
6 BMP receptor binding GO:0070700 8.8 BMP2 BMP4 BMP6

Sources for Fibrochondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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