FBCG1
MCID: FBR025
MIFTS: 48

Fibrochondrogenesis (FBCG1) malady

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

Aliases & Classifications for Fibrochondrogenesis

Aliases & Descriptions for Fibrochondrogenesis:

Name: Fibrochondrogenesis 12 50 25 56 29 13 42 14 69
Fibrochondrogenesis 1 69
Fibrochondrogenesis 2 69
Fibrochondrogenesis-1 25
Fibrochondrogenesis-2 25
Fbcg1 25
Fbcg2 25

Characteristics:

Orphanet epidemiological data:

56
fibrochondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060465
MeSH 42 C562524
SNOMED-CT 64 17144009
Orphanet 56 ORPHA2021
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 70 C0265282
UMLS 69 C0265282

Summaries for Fibrochondrogenesis

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.

MalaCards based summary : Fibrochondrogenesis, also known as fibrochondrogenesis 1, is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including hypertelorism, low-set ears and short neck. 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 small intestine, and related phenotypes are growth/size/body region and craniofacial

Wikipedia : 71 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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 low-set ears 56 32 Frequent (79-30%) HP:0000369
3 short neck 56 32 Very frequent (99-80%) HP:0000470
4 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
5 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
6 anteverted nares 56 32 Frequent (79-30%) HP:0000463
7 short stature 56 32 Very frequent (99-80%) HP:0004322
8 cleft palate 56 32 Frequent (79-30%) HP:0000175
9 broad ribs 56 32 Very frequent (99-80%) HP:0000885
10 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
11 narrow chest 56 32 Very frequent (99-80%) HP:0000774
12 micromelia 56 32 Occasional (29-5%) HP:0002983
13 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
14 hearing abnormality 56 32 Frequent (79-30%) HP:0000364
15 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
16 narrow mouth 56 32 Frequent (79-30%) HP:0000160
17 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
18 round face 56 32 Very frequent (99-80%) HP:0000311
19 proptosis 56 32 Very frequent (99-80%) HP:0000520
20 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
21 plagiocephaly 56 32 Occasional (29-5%) HP:0001357
22 abnormal diaphysis morphology 56 32 Very frequent (99-80%) HP:0000940
23 hypoplastic fingernail 56 32 Frequent (79-30%) HP:0001804
24 omphalocele 56 32 Occasional (29-5%) HP:0001539
25 wide anterior fontanel 56 32 Very frequent (99-80%) HP:0000260
26 hypoplastic scapulae 56 32 Frequent (79-30%) HP:0000882
27 bell-shaped thorax 56 32 Very frequent (99-80%) HP:0001591
28 short ribs 56 32 Very frequent (99-80%) HP:0000773
29 abnormality of the ribs 56 Very frequent (99-80%)

UMLS symptoms related to Fibrochondrogenesis:


edema

MGI Mouse Phenotypes related to Fibrochondrogenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 BMP4 BMP6 CD44 COL11A1 COL11A2 ENG
2 craniofacial MP:0005382 9.85 BMP2 BMP4 COL11A1 COL11A2 ENG SLC35D1
3 digestive/alimentary MP:0005381 9.8 BMP2 BMP4 CD44 COL11A1 ENG SLC35D1
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:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis 29

Anatomical Context for Fibrochondrogenesis

MalaCards organs/tissues related to Fibrochondrogenesis:

39
Bone, Lung, Small Intestine

Publications for Fibrochondrogenesis

Articles related to Fibrochondrogenesis:

(show all 26)
id 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
Fibrochondrogenesis, an antenatal and postnatal correlation. ( 22439129 )
2012
5
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. ( 21668896 )
2012
6
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? ( 23026214 )
2012
7
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. ( 22246659 )
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
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. ( 21035103 )
2010
10
The influence of an aligned nanofibrous topography on human mesenchymal stem cell fibrochondrogenesis. ( 20494438 )
2010
11
Fibrochondrogenesis of hESCs: growth factor combinations and cocultures. ( 18454697 )
2009
12
Development of serum-free, chemically defined conditions for human embryonic stem cell-derived fibrochondrogenesis. ( 19231974 )
2009
13
Fibrochondrogenesis in two embryonic stem cell lines: effects of differentiation timelines. ( 18032702 )
2008
14
Fibrochondrogenesis. ( 28386830 )
2005
15
Fibrochondrogenesis. ( 15876767 )
2005
16
Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds. ( 15009938 )
2004
17
Two sibs with fibrochondrogenesis. ( 15150788 )
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: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. ( 6507478 )
1984
26
Fibrochondrogenesis: radiologic and histologic studies. ( 6507479 )
1984

Variations for Fibrochondrogenesis

ClinVar genetic disease variations for Fibrochondrogenesis:

6
id 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:

id 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 54)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 BMP2 BMP4 ENG
2 heart development GO:0007507 9.85 BMP2 BMP4 ENG
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 BMP2 BMP4 CD44
4 negative regulation of gene expression GO:0010629 9.82 BMP2 BMP4 ENG
5 positive regulation of protein phosphorylation GO:0001934 9.81 BMP2 BMP4 ENG
6 osteoblast differentiation GO:0001649 9.76 BMP2 BMP4 BMP6
7 positive regulation of neuron differentiation GO:0045666 9.74 BMP2 BMP4 BMP6
8 collagen catabolic process GO:0030574 9.71 COL11A1 COL11A2
9 positive regulation of epithelial cell proliferation GO:0050679 9.71 BMP4 BMP6
10 positive regulation of protein binding GO:0032092 9.71 BMP2 BMP4
11 odontogenesis of dentin-containing tooth GO:0042475 9.71 BMP2 BMP4
12 positive regulation of endothelial cell proliferation GO:0001938 9.71 BMP2 BMP4 BMP6
13 cell fate commitment GO:0045165 9.7 BMP2 BMP4
14 cellular response to growth factor stimulus GO:0071363 9.7 BMP2 BMP4
15 bone development GO:0060348 9.7 BMP4 ENG
16 embryonic skeletal system morphogenesis GO:0048704 9.7 BMP4 COL11A1
17 SMAD protein signal transduction GO:0060395 9.7 BMP2 BMP4 BMP6
18 positive regulation of cell differentiation GO:0045597 9.69 BMP2 BMP4
19 branching involved in ureteric bud morphogenesis GO:0001658 9.69 BMP2 BMP4
20 skeletal system morphogenesis GO:0048705 9.69 COL11A1 COL11A2
21 negative regulation of cell cycle GO:0045786 9.68 BMP2 BMP4
22 collagen fibril organization GO:0030199 9.68 COL11A1 COL11A2
23 embryonic skeletal system development GO:0048706 9.68 BMP4 SLC35D1
24 positive regulation of BMP signaling pathway GO:0030513 9.68 BMP4 ENG
25 cardiac muscle cell differentiation GO:0055007 9.67 BMP2 BMP4
26 telencephalon development GO:0021537 9.67 BMP2 BMP4
27 positive regulation of osteoblast differentiation GO:0045669 9.67 BMP2 BMP4 BMP6
28 endochondral ossification GO:0001958 9.66 BMP4 BMP6
29 positive regulation of collagen biosynthetic process GO:0032967 9.66 BMP4 ENG
30 outflow tract septum morphogenesis GO:0003148 9.65 BMP4 ENG
31 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.65 BMP2 BMP4
32 positive regulation of cartilage development GO:0061036 9.63 BMP2 BMP4
33 endocardial cushion morphogenesis GO:0003203 9.63 BMP2 ENG
34 chondrocyte differentiation GO:0002062 9.63 BMP2 BMP4 COL11A2
35 positive regulation of ossification GO:0045778 9.62 BMP2 BMP4
36 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.62 BMP4 ENG
37 skeletal system development GO:0001501 9.62 BMP2 BMP4 BMP6 COL11A2
38 type B pancreatic cell development GO:0003323 9.61 BMP4 BMP6
39 positive regulation of SMAD protein import into nucleus GO:0060391 9.61 BMP4 BMP6
40 cellular response to BMP stimulus GO:0071773 9.61 BMP2 BMP4 BMP6
41 positive regulation of endothelial cell differentiation GO:0045603 9.6 BMP4 BMP6
42 smooth muscle tissue development GO:0048745 9.59 BMP4 ENG
43 proteoglycan metabolic process GO:0006029 9.58 BMP2 COL11A1
44 telencephalon regionalization GO:0021978 9.56 BMP2 BMP4
45 BMP signaling pathway GO:0030509 9.56 BMP2 BMP4 BMP6 ENG
46 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.55 BMP2 BMP4
47 positive regulation of bone mineralization GO:0030501 9.54 BMP2 BMP4 BMP6
48 positive regulation of DNA-dependent DNA replication GO:2000105 9.51 BMP4 BMP6
49 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.48 BMP2 BMP4
50 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.46 BMP2 BMP4 BMP6 ENG

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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