FBCG1
MCID: FBR025
MIFTS: 48

Fibrochondrogenesis (FBCG1) malady

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

Aliases & Classifications for Fibrochondrogenesis

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 48NIH Rare Diseases, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fibrochondrogenesis:

Name: Fibrochondrogenesis 11 48 25 54 27 12 39 13 68
Fibrochondrogenesis 2 68
Fibrochondrogenesis-2 25
Fibrochondrogenesis 1 68
 
Fibrochondrogenesis-1 25
Fbcg2 25
Fbcg1 25

Characteristics:

Orphanet epidemiological data:

54
fibrochondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

Classifications:



External Ids:

Disease Ontology11 DOID:0060465
MeSH39 C562524
Orphanet54 ORPHA2021
SNOMED-CT62 17144009
ICD10 via Orphanet31 Q77.7
UMLS via Orphanet69 C0265282

Summaries for Fibrochondrogenesis

About this section
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 2, is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including edema, Array and Array. An important gene associated with Fibrochondrogenesis is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways are Differentiation of white and brown adipocyte and Heart Development. Affiliated tissues include bone, lung and small intestine, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Wikipedia:71 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

Related Diseases for Fibrochondrogenesis

About this section

Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Symptoms & Phenotypes for Fibrochondrogenesis

About this section

Human phenotypes related to Fibrochondrogenesis:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth64 54 Frequent (79-30%) HP:0000160
2 cleft palate64 54 Frequent (79-30%) HP:0000175
3 wide anterior fontanel64 54 Very frequent (99-80%) HP:0000260
4 round face64 54 Very frequent (99-80%) HP:0000311
5 hypertelorism64 54 Occasional (29-5%) HP:0000316
6 hearing abnormality64 54 Frequent (79-30%) HP:0000364
7 low-set ears64 54 Frequent (79-30%) HP:0000369
8 anteverted nares64 54 Frequent (79-30%) HP:0000463
9 short neck64 54 Very frequent (99-80%) HP:0000470
10 downslanted palpebral fissures64 54 Frequent (79-30%) HP:0000494
11 proptosis64 54 Very frequent (99-80%) HP:0000520
12 abnormality of the ribs54 Very frequent (99-80%)
13 short ribs64 54 Very frequent (99-80%) HP:0000773
14 narrow chest64 54 Very frequent (99-80%) HP:0000774
15 hypoplastic scapulae64 54 Frequent (79-30%) HP:0000882
16 broad ribs64 54 Very frequent (99-80%) HP:0000885
17 abnormal diaphysis morphology64 54 Very frequent (99-80%) HP:0000940
18 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
19 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
20 plagiocephaly64 54 Occasional (29-5%) HP:0001357
21 omphalocele64 54 Occasional (29-5%) HP:0001539
22 bell-shaped thorax64 54 Very frequent (99-80%) HP:0001591
23 hypoplastic fingernail64 54 Frequent (79-30%) HP:0001804
24 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
25 micromelia64 54 Occasional (29-5%) HP:0002983
26 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
27 short stature64 54 Very frequent (99-80%) HP:0004322
28 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
29 camptodactyly of finger64 54 Occasional (29-5%) HP:0100490

UMLS symptoms related to Fibrochondrogenesis:


edema

MGI Mouse Phenotypes related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6BMP2, BMP4, COL11A1, COL11A2
2MP:00053718.6BMP2, BMP4, CD44, COL11A1, SLC35D1
3MP:00053828.5BMP2, BMP4, COL11A1, COL11A2, ENG, SLC35D1
4MP:00053818.0BMP2, BMP4, CD44, COL11A1, ENG, SLC35D1
5MP:00053787.2BMP2, BMP4, BMP6, CD44, COL11A1, COL11A2
6MP:00053907.0BMP2, BMP4, BMP6, CD44, COL11A1, COL11A2

Drugs & Therapeutics for Fibrochondrogenesis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis


Cochrane evidence based reviews: fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

About this section

Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis27

Anatomical Context for Fibrochondrogenesis

About this section

MalaCards organs/tissues related to Fibrochondrogenesis:

36
Bone, Lung, Small intestine

Publications for Fibrochondrogenesis

About this section

Articles related to Fibrochondrogenesis:

(show all 26)
idTitleAuthorsYear
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

About this section

Clinvar genetic disease variations for Fibrochondrogenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_ 001854.3(COL11A1): c.4603T> C (p.Ser1535Pro)SNVrisk factorrs1676486GRCh37Chr 1, 103354138: 103354138
2COL11A1NM_ 001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs)duplicationPathogenicrs730882190GRCh37Chr 1, 103471629: 103471629
3COL11A1NM_ 080629.2(COL11A1): c.3277G> C (p.Gly1093Arg)SNVPathogenicrs397514455GRCh37Chr 1, 103412440: 103412440
4COL11A1NM_ 080629.2(COL11A1): c.2386G> C (p.Gly796Arg)SNVPathogenicrs387906611GRCh37Chr 1, 103455118: 103455118
5COL11A1COL11A1, GLY1315TERundetermined variantPathogenic

Expression for genes affiliated with Fibrochondrogenesis

About this section
Search GEO for disease gene expression data for Fibrochondrogenesis.

Pathways for genes affiliated with Fibrochondrogenesis

About this section

GO Terms for genes affiliated with Fibrochondrogenesis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type XI trimerGO:000559210.5COL11A1, COL11A2
2endoplasmic reticulum lumenGO:000578810.0BMP4, COL11A1, COL11A2
3proteinaceous extracellular matrixGO:00055789.2BMP4, COL11A1, COL11A2
4extracellular spaceGO:00056158.7BMP2, BMP4, BMP6, COL11A1, ENG

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

(show top 50)    (show all 54)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:003057410.5COL11A1, COL11A2
2collagen fibril organizationGO:003019910.5COL11A1, COL11A2
3embryonic skeletal system morphogenesisGO:004870410.4BMP4, COL11A1
4proteoglycan metabolic processGO:000602910.3BMP2, COL11A1
5BMP signaling pathway involved in heart inductionGO:000313010.3BMP2, BMP4
6branching involved in ureteric bud morphogenesisGO:000165810.3BMP2, BMP4
7cardiac muscle cell differentiationGO:005500710.3BMP2, BMP4
8cell fate commitmentGO:004516510.3BMP2, BMP4
9cellular response to growth factor stimulusGO:007136310.3BMP2, BMP4
10mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.3BMP2, BMP4
11negative regulation of cell cycleGO:004578610.3BMP2, BMP4
12odontogenesis of dentin-containing toothGO:004247510.3BMP2, BMP4
13positive regulation of cartilage developmentGO:006103610.3BMP2, BMP4
14positive regulation of cell differentiationGO:004559710.3BMP2, BMP4
15skeletal system morphogenesisGO:004870510.3COL11A1, COL11A2
16positive regulation of ossificationGO:004577810.3BMP2, BMP4
17positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.3BMP2, BMP4
18positive regulation of protein bindingGO:003209210.3BMP2, BMP4
19endochondral ossificationGO:000195810.3BMP4, BMP6
20positive regulation of DNA-dependent DNA replicationGO:200010510.3BMP4, BMP6
21positive regulation of endothelial cell differentiationGO:004560310.3BMP4, BMP6
22positive regulation of epithelial cell proliferationGO:005067910.2BMP4, BMP6
23positive regulation of SMAD protein import into nucleusGO:006039110.2BMP4, BMP6
24endocardial cushion morphogenesisGO:000320310.2BMP2, ENG
25embryonic skeletal system developmentGO:004870610.2BMP4, SLC35D1
26regulation of odontogenesis of dentin-containing toothGO:004248710.2BMP2, BMP4
27bone developmentGO:006034810.1BMP4, ENG
28epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.1BMP4, ENG
29outflow tract septum morphogenesisGO:000314810.1BMP4, ENG
30positive regulation of BMP signaling pathwayGO:003051310.1BMP4, ENG
31positive regulation of collagen biosynthetic processGO:003296710.1BMP4, ENG
32chondrocyte differentiationGO:00020629.9BMP2, BMP4, COL11A2
33telencephalon developmentGO:00215379.9BMP2, BMP4
34cellular response to BMP stimulusGO:00717739.9BMP2, BMP4, BMP6
35osteoblast differentiationGO:00016499.8BMP2, BMP4, BMP6
36positive regulation of bone mineralizationGO:00305019.8BMP2, BMP4, BMP6
37positive regulation of endothelial cell proliferationGO:00019389.8BMP2, BMP4, BMP6
38positive regulation of neuron differentiationGO:00456669.8BMP2, BMP4, BMP6
39positive regulation of osteoblast differentiationGO:00456699.8BMP2, BMP4, BMP6
40telencephalon regionalizationGO:00219789.8BMP2, BMP4
41smooth muscle tissue developmentGO:00487459.8BMP4, ENG
42heart developmentGO:00075079.7BMP2, BMP4, ENG
43negative regulation of gene expressionGO:00106299.7BMP2, BMP4, ENG
44positive regulation of gene expressionGO:00106289.7BMP2, BMP4, ENG
45positive regulation of protein phosphorylationGO:00019349.6BMP2, BMP4, ENG
46SMAD protein signal transductionGO:00603959.6BMP2, BMP4, BMP6
47type B pancreatic cell developmentGO:00033239.5BMP4, BMP6
48positive regulation of ERK1 and ERK2 cascadeGO:00703749.5BMP2, BMP4, CD44
49skeletal system developmentGO:00015019.3BMP2, BMP4, BMP6, COL11A2
50BMP signaling pathwayGO:00305099.2BMP2, BMP4, BMP6, ENG

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:000520110.3COL11A1, COL11A2
2co-receptor bindingGO:003970610.2BMP2, BMP4
3BMP receptor bindingGO:00707009.7BMP2, BMP4, BMP6
4cytokine activityGO:00051259.7BMP2, BMP4, BMP6
5growth factor activityGO:00080839.5BMP2, BMP4, BMP6
6transforming growth factor beta receptor bindingGO:00051609.1BMP2, BMP4, BMP6

Sources for Fibrochondrogenesis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet