MCID: FBR025
MIFTS: 49

Fibrochondrogenesis malady

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

Aliases & Classifications for Fibrochondrogenesis

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Sources:
66UMLS, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 37MeSH, 67UMLS via Orphanet, 29ICD10 via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Fibrochondrogenesis:

Name: Fibrochondrogenesis 11 46 24 13 52 25 12 37 66
Fibrochondrogenesis 2 66
Fibrochondrogenesis-2 24
Fibrochondrogenesis 1 66
 
Fibrochondrogenesis-1 24
Fbcg2 24
Fbcg1 24

Characteristics:

Orphanet epidemiological data:

52
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
MeSH37 C562524
Orphanet52 ORPHA2021
SNOMED-CT60 17144009
UMLS via Orphanet67 C0265282
ICD10 via Orphanet29 Q77.7

Summaries for Fibrochondrogenesis

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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.

MalaCards based summary: Fibrochondrogenesis, also known as fibrochondrogenesis 2, is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including abnormality of the fontanelles or cranial sutures, round face and short neck. An important gene associated with Fibrochondrogenesis is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways are Id Signaling Pathway and Heart Development. Affiliated tissues include bone, lung and small intestine, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:69 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

Related Diseases for Fibrochondrogenesis

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Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Symptoms for Fibrochondrogenesis

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Symptoms:

 52 (show all 29)
  • narrow mouth
  • cleft palate
  • wide anterior fontanel
  • round face
  • hypertelorism
  • hearing abnormality
  • low-set ears
  • anteverted nares
  • short neck
  • downslanted palpebral fissures
  • proptosis
  • abnormality of the ribs
  • short ribs
  • narrow chest
  • hypoplastic scapulae
  • broad ribs
  • abnormal diaphysis morphology
  • abnormality of the metaphyses
  • brachydactyly syndrome
  • plagiocephaly
  • omphalocele
  • bell-shaped thorax
  • hypoplastic fingernail
  • respiratory insufficiency
  • micromelia
  • abnormal form of the vertebral bodies
  • short stature
  • depressed nasal bridge
  • camptodactyly of finger

HPO human phenotypes related to Fibrochondrogenesis:

(show all 28)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 round face hallmark (90%) HP:0000311
3 short neck hallmark (90%) HP:0000470
4 proptosis hallmark (90%) HP:0000520
5 abnormality of the ribs hallmark (90%) HP:0000772
6 narrow chest hallmark (90%) HP:0000774
7 abnormal diaphysis morphology hallmark (90%) HP:0000940
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 brachydactyly syndrome hallmark (90%) HP:0001156
10 micromelia hallmark (90%) HP:0002983
11 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
12 short stature hallmark (90%) HP:0004322
13 enlarged thorax hallmark (90%) HP:0100625
14 narrow mouth typical (50%) HP:0000160
15 cleft palate typical (50%) HP:0000175
16 hearing abnormality typical (50%) HP:0000364
17 low-set, posteriorly rotated ears typical (50%) HP:0000368
18 anteverted nares typical (50%) HP:0000463
19 downslanted palpebral fissures typical (50%) HP:0000494
20 sprengel anomaly typical (50%) HP:0000912
21 anonychia typical (50%) HP:0001798
22 respiratory insufficiency typical (50%) HP:0002093
23 depressed nasal bridge typical (50%) HP:0005280
24 hypertelorism occasional (7.5%) HP:0000316
25 plagiocephaly occasional (7.5%) HP:0001357
26 omphalocele occasional (7.5%) HP:0001539
27 micromelia occasional (7.5%) HP:0002983
28 camptodactyly of finger occasional (7.5%) HP:0100490

Drugs & Therapeutics for Fibrochondrogenesis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis


Cochrane evidence based reviews: fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

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Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis25

Anatomical Context for Fibrochondrogenesis

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MalaCards organs/tissues related to Fibrochondrogenesis:

34
Bone, Lung, Small intestine

Animal Models for Fibrochondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Fibrochondrogenesis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9BMP2, BMP4, COL11A1, COL11A2
2MP:00053827.8BMP2, BMP4, COL11A1, COL11A2, ENG, SLC35D1
3MP:00053717.5BMP2, BMP4, CD44, COL11A1, SLC35D1
4MP:00053817.3BMP2, BMP4, CD44, COL11A1, ENG, SLC35D1
5MP:00053906.9BMP2, BMP4, BMP6, CD44, COL11A1, COL11A2
6MP:00053786.3BMP2, BMP4, BMP6, CD44, COL11A1, COL11A2

Publications for Fibrochondrogenesis

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Articles related to Fibrochondrogenesis:

(show all 25)
idTitleAuthorsYear
1
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. (23906683)
2013
2
Regulation of fibrochondrogenesis of mesenchymal stem cells in an integrated microfluidic platform embedded with biomimetic nanofibrous scaffolds. (23637803)
2013
3
Fibrochondrogenesis: Prenatal diagnosis and outcome. (24127948)
2013
4
Fibrochondrogenesis, an antenatal and postnatal correlation. (22439129)
2012
5
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? (23026214)
2012
6
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. (22246659)
2012
7
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. (21668896)
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
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. (15876767)
2005
15
Two sibs with fibrochondrogenesis. (15150788)
2004
16
Fibrochondrogenesis of free intraarticular small intestinal submucosa scaffolds. (15009938)
2004
17
Fetal fibrochondrogenesis at 26 weeks' gestation. (12224076)
2002
18
Recurrence of fibrochondrogenesis in a consanguineous family. (10327253)
1999
19
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. (9475607)
1998
20
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis. (9759906)
1998
21
Fibrochondrogenesis: clinical and radiological features. (9134297)
1997
22
A new case of fibrochondrogenesis from Spain. (8733059)
1996
23
Fibrochondrogenesis in male twins at 24 weeks gestation. (2012139)
1991
24
Fibrochondrogenesis: radiologic and histologic studies. (6507479)
1984
25
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. (6507478)
1984

Variations for Fibrochondrogenesis

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Expression for genes affiliated with Fibrochondrogenesis

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Search GEO for disease gene expression data for Fibrochondrogenesis.

Pathways for genes affiliated with Fibrochondrogenesis

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GO Terms for genes affiliated with Fibrochondrogenesis

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

idNameGO IDScoreTop Affiliating Genes
1collagen type XI trimerGO:00055929.8COL11A1, COL11A2
2membrane-bounded vesicleGO:00319889.0BMP4, BMP6

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

(show top 50)    (show all 55)
idNameGO IDScoreTop Affiliating Genes
1skeletal system morphogenesisGO:004870510.3COL11A1, COL11A2
2proteoglycan metabolic processGO:000602910.3BMP2, COL11A1
3endocardial cushion morphogenesisGO:000320310.2BMP2, ENG
4growthGO:004000710.1BMP2, BMP6
5collagen fibril organizationGO:003019910.0COL11A1, COL11A2
6mesenchymal cell proliferation involved in ureteric bud developmentGO:00721389.9BMP2, BMP4
7BMP signaling pathway involved in heart inductionGO:00031309.9BMP2, BMP4
8telencephalon regionalizationGO:00219789.9BMP2, BMP4
9positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:19028959.9BMP2, BMP4
10positive regulation of ossificationGO:00457789.9BMP2, BMP4
11cardiac muscle cell differentiationGO:00550079.9BMP2, BMP4
12telencephalon developmentGO:00215379.8BMP2, BMP4
13negative regulation of cell cycleGO:00457869.8BMP2, BMP4
14positive regulation of DNA-dependent DNA replicationGO:20001059.8BMP4, BMP6
15positive regulation of cell differentiationGO:00455979.7BMP2, BMP4
16positive regulation of cartilage developmentGO:00610369.7BMP2, BMP4
17bone developmentGO:00603489.7BMP4, ENG
18positive regulation of protein bindingGO:00320929.7BMP2, BMP4
19positive regulation of collagen biosynthetic processGO:00329679.7BMP4, ENG
20branching involved in ureteric bud morphogenesisGO:00016589.6BMP2, BMP4
21positive regulation of BMP signaling pathwayGO:00305139.6BMP4, ENG
22positive regulation of endothelial cell differentiationGO:00456039.6BMP4, BMP6
23positive regulation of SMAD protein import into nucleusGO:00603919.6BMP4, BMP6
24odontogenesis of dentin-containing toothGO:00424759.6BMP2, BMP4
25type B pancreatic cell developmentGO:00033239.6BMP4, BMP6
26smooth muscle tissue developmentGO:00487459.5BMP4, ENG
27ossificationGO:00015039.5BMP6, COL11A1, COL11A2
28endochondral ossificationGO:00019589.4BMP4, BMP6
29chondrocyte differentiationGO:00020629.4BMP2, BMP4, COL11A2
30positive regulation of bone mineralizationGO:00305019.3BMP2, BMP4, BMP6
31SMAD protein signal transductionGO:00603959.3BMP2, BMP4, BMP6
32embryonic skeletal system developmentGO:00487069.3BMP4, SLC35D1
33regulation of odontogenesis of dentin-containing toothGO:00424879.3BMP2, BMP4
34positive regulation of endothelial cell proliferationGO:00019389.2BMP2, BMP4, BMP6
35positive regulation of protein phosphorylationGO:00019349.2BMP2, BMP4, ENG
36negative regulation of gene expressionGO:00106299.1BMP2, BMP4, ENG
37response to retinoic acidGO:00325269.1BMP4, BMP6
38cellular response to mechanical stimulusGO:00712609.1BMP4, BMP6, ENG
39cellular response to BMP stimulusGO:00717739.0BMP2, BMP4, BMP6
40osteoblast differentiationGO:00016499.0BMP2, BMP4, BMP6
41positive regulation of osteoblast differentiationGO:00456699.0BMP2, BMP4, BMP6
42cartilage developmentGO:00512169.0BMP6, CD44, COL11A1, COL11A2
43embryonic skeletal system morphogenesisGO:00487049.0BMP4, COL11A1
44positive regulation of neuron differentiationGO:00456668.9BMP2, BMP4, BMP6
45positive regulation of gene expressionGO:00106288.9BMP2, BMP4, ENG
46positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.7BMP2, BMP4, BMP6, ENG
47skeletal system developmentGO:00015018.6BMP2, BMP4, BMP6, COL11A2
48heart developmentGO:00075078.6BMP2, BMP4, ENG
49positive regulation of ERK1 and ERK2 cascadeGO:00703748.6BMP2, BMP4, CD44
50BMP signaling pathwayGO:00305098.5BMP2, BMP4, BMP6, ENG

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

idNameGO IDScoreTop Affiliating Genes
1co-receptor bindingGO:00397069.2BMP2, BMP4
2BMP receptor bindingGO:00707009.2BMP2, BMP4, BMP6
3transforming growth factor beta receptor bindingGO:00051609.2BMP2, BMP4, BMP6
4cytokine activityGO:00051258.7BMP2, BMP4, BMP6
5growth factor activityGO:00080838.6BMP2, BMP4, BMP6

Sources for Fibrochondrogenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet