MCID: FBR025
MIFTS: 42

Fibrochondrogenesis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Fibrochondrogenesis

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 stillbirth/neonatal death, large fontanelle/delayed fontanelle closure and round face. 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 Focal adhesion. Affiliated tissues include bone, lung and small intestine.

Description from OMIM:48 228520,614524

Aliases & Classifications for Fibrochondrogenesis

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
fibrochondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fibrochondrogenesis 44 23 48 50 63


External Ids:

ICD10 via Orphanet27 Q77.7
SNOMED-CT via Orphanet60 17144009
UMLS via Orphanet64 C0265282

Related Diseases for Fibrochondrogenesis

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Symptoms for Fibrochondrogenesis

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520,614524

Symptoms:

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

Drugs & Therapeutics for Fibrochondrogenesis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
23GTR
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Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis23

Anatomical Context for Fibrochondrogenesis

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Sources:
34MalaCards
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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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Publications for Fibrochondrogenesis

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Sources:
53PubMed
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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
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

Variations for Fibrochondrogenesis

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fibrochondrogenesis:

65
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly796ArgVAR_065904
2COL11A1p.Gly1042ArgVAR_065905

Clinvar genetic disease variations for Fibrochondrogenesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL11A1COL11A1, 1-BP DUP, 1786GduplicationPathogenic
2COL11A1NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg)single nucleotide variantPathogenicrs397514455GRCh37Chr 1, 103412440: 103412440
3COL11A1NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg)single nucleotide variantPathogenicrs387906611GRCh37Chr 1, 103455118: 103455118
4COL11A1COL11A1, GLY1315TERundetermined variantPathogenic

Expression for genes affiliated with Fibrochondrogenesis

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database
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Compounds for genes affiliated with Fibrochondrogenesis

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GO Terms for genes affiliated with Fibrochondrogenesis

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Sources:
17Gene Ontology
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Cellular components related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.7COL11A1, COL11A2
2collagen type XIGO:0055929.4COL11A1, COL11A2

Biological processes related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:0301999.7COL11A1, COL11A2
2sensory perception of soundGO:0076059.7COL11A1, COL11A2
3collagen catabolic processGO:0305749.6COL11A1, COL11A2
4extracellular matrix disassemblyGO:0226179.4COL11A1, COL11A2

Molecular functions related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.7COL11A1, COL11A2

Products for genes affiliated with Fibrochondrogenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibrochondrogenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet