MCID: FBR025
MIFTS: 34

Fibrochondrogenesis malady

Bone, Fetal categories

Summaries for Fibrochondrogenesis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

MalaCards: Fibrochondrogenesis is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including large fontanelle/delayed fontanelle closure, round face and proptosis/exophthalmos. An important gene associated with Fibrochondrogenesis is COL11A1 (collagen, type XI, alpha 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Amoebiasis. Affiliated tissues include small intestine.

Description from OMIM:47 228520,614524

Aliases & Classifications for Fibrochondrogenesis

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
fibrochondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fibrochondrogenesis 43 22 47 49 61


External Ids:

ICD10 via Orphanet26 Q77.7
SNOMED-CT via Orphanet58 17144009
UMLS via Orphanet62 C0265282

Related Diseases for Fibrochondrogenesis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Fibrochondrogenesis family:

fibrochondrogenesis 2 fibrochondrogenesis 1

Diseases related to Fibrochondrogenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fibrochondrogenesis 210.4
2fibrochondrogenesis 110.2
3chondrodysplasia10.0
4chondrodysplasia lethal recessive10.0
5marshall syndrome10.0COL11A1
6stickler syndrome10.0COL11A2, COL11A1
7cleft palate10.0COL11A2, COL11A1
8sensorineural hearing loss10.0COL11A2, COL11A1
9myopia 610.0COL11A2, COL11A1

Graphical network of diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Clinical Features for Fibrochondrogenesis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

228520,614524

Clinical synopsis from OMIM:

228520

Symptoms:

49 (show all 30)
  • large fontanelle/delayed fontanelle closure
  • round face
  • proptosis/exophthalmos
  • short neck
  • narrow rib cage/thorax
  • flared chest/bell-shaped thorax/shield chest
  • anomalies of the ribs
  • abnormal vertebral size/shape
  • short limbs/micromelia/brachymelia
  • short hand/brachydactyly
  • metaphyseal anomaly
  • diaphyseal anomaly
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • depressed nasal bridge
  • anteverted nares/nostrils
  • microstomia/little mouth
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of ear and hearing
  • low set ears/posteriorly rotated ears
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • absent/small fingernails/anonychia of hands
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • plagiocephaly
  • hypertelorism
  • omphalocele/exomphalos
  • mesomelic micromelia
  • camptodactyly of fingers

Drugs & Therapeutics for Fibrochondrogenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Fibrochondrogenesis

Drug clinical trials:

Search ClinicalTrials for Fibrochondrogenesis

Search NIH Clinical Center for Fibrochondrogenesis

Search CenterWatch for Fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

Sources:
22GTR
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Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis22

Anatomical Context for Fibrochondrogenesis

Sources:
33MalaCards
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MalaCards organs/tissues related to Fibrochondrogenesis:

33
Small intestine

Animal Models for Fibrochondrogenesis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Fibrochondrogenesis

Sources:
51PubMed
See all sources

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
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. (22246659)
2012
6
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. (21668896)
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
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. (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

Genetic Variations for Fibrochondrogenesis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fibrochondrogenesis:

63
id Symbol AA change Variation SNP ID
1COL11A1p.Gly796ArgVAR_065904
2COL11A1p.Gly1042ArgVAR_065905

Expression for genes affiliated with Fibrochondrogenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fibrochondrogenesis

Search GEO for disease gene expression data for Fibrochondrogenesis.

Pathways for genes affiliated with Fibrochondrogenesis

Sources:
54Reactome, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Fibrochondrogenesis

GO Terms for genes affiliated with Fibrochondrogenesis

Sources:
16Gene Ontology
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Cellular components related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.6COL11A2, COL11A1
2collagen type XIGO:0055929.3COL11A2, COL11A1

Biological processes related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:0301999.6COL11A2, COL11A1
2sensory perception of soundGO:0076059.6COL11A2, COL11A1
3collagen catabolic processGO:0305749.5COL11A2, COL11A1
4extracellular matrix disassemblyGO:0226179.3COL11A2, COL11A1

Molecular functions related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.6COL11A2, COL11A1

Products for genes affiliated with Fibrochondrogenesis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibrochondrogenesis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet