MCID: FBR025
MIFTS: 43

Fibrochondrogenesis malady

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

Aliases & Classifications for Fibrochondrogenesis

About this section
Sources:
65UMLS, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Fibrochondrogenesis:

Name: Fibrochondrogenesis 45 51 24 65
 
Fibrochondrogenesis 1 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
fibrochondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Orphanet51 2021
ICD10 via Orphanet28 Q77.7
UMLS via Orphanet66 C0265282

Summaries for Fibrochondrogenesis

About this section
Wikipedia:68 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

MalaCards based summary: Fibrochondrogenesis, also known as fibrochondrogenesis 1, 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), and among its related pathways are Elastic fibre formation and Heart Development. Affiliated tissues include bone, lung and small intestine, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Related Diseases for Fibrochondrogenesis

About this section

Graphical network of diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Symptoms for Fibrochondrogenesis

About this section

Symptoms:

 51 (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

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

About this section

Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis24

Anatomical Context for Fibrochondrogenesis

About this section

MalaCards organs/tissues related to Fibrochondrogenesis:

33
Bone, Lung, Small intestine

Animal Models for Fibrochondrogenesis or affiliated genes

About this section

MGI Mouse Phenotypes related to Fibrochondrogenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0BMP2, BMP4, COL11A1, COL11A2
2MP:00053718.5BMP2, BMP4, CD44, COL11A1
3MP:00053818.4BMP2, BMP4, CD44, COL11A1
4MP:00053828.3BMP2, BMP4, COL11A1, COL11A2, ENG
5MP:00053888.1BMP4, CD44, COL11A1, ENG
6MP:00053907.7BMP2, BMP4, BMP6, CD44, COL11A1, COL11A2
7MP:00053786.9BMP2, BMP4, BMP6, CD44, COL11A2, ENG

Publications for Fibrochondrogenesis

About this section

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

About this section

Clinvar genetic disease variations for Fibrochondrogenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs)duplicationPathogenicrs730882190GRCh37Chr 1, 103471629: 103471629
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
5COL11A2COL11A2, IVS18, 1-BP INS, +3insertionPathogenic
6COL11A2COL11A2, 9-BP DEL, NT2899deletionPathogenic

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

Pathways related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5BMP2, BMP4
29.5BMP2, BMP4
39.5BMP2, BMP4
49.5BMP2, BMP6
5
Show member pathways
9.5BMP2, BMP6
69.3BMP4, ENG
7
Show member pathways
9.0BMP2, BMP4, BMP6
8
TGF-beta signaling pathway (KEGG)
Show member pathways
9.0BMP2, BMP4, BMP6
99.0BMP2, BMP4, BMP6
109.0BMP2, BMP4, BMP6
11
TGF-beta Signaling Pathway (sino)
Show member pathways
8.9BMP2, BMP4, BMP6
12
Show member pathways
8.2BMP2, BMP4, BMP6, COL11A1, COL11A2
13
Show member pathways
7.9BMP2, BMP4, CD44, COL11A1, COL11A2

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:000559210.0COL11A1, COL11A2
2collagen trimerGO:00055819.7COL11A1, COL11A2
3membrane-bounded vesicleGO:00319889.7BMP4, BMP6

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

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA-dependent DNA replicationGO:200010510.2BMP4, BMP6
2positive regulation of endothelial cell differentiationGO:004560310.2BMP4, BMP6
3BMP signaling pathway involved in heart inductionGO:000313010.1BMP2, BMP4
4telencephalon regionalizationGO:002197810.1BMP2, BMP4
5regulation of odontogenesis of dentin-containing toothGO:004248710.1BMP2, BMP4
6cell fate commitmentGO:004516510.1BMP2, BMP4
7mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.1BMP2, BMP4
8positive regulation of SMAD protein import into nucleusGO:006039110.1BMP4, BMP6
9embryonic skeletal system morphogenesisGO:004870410.1BMP4, COL11A1
10positive regulation of ossificationGO:004577810.1BMP2, BMP4
11telencephalon developmentGO:002153710.1BMP2, BMP4
12negative regulation of cell cycleGO:004578610.1BMP2, BMP4
13positive regulation of epithelial cell proliferationGO:005067910.0BMP4, BMP6
14positive regulation of protein bindingGO:003209210.0BMP2, BMP4
15type B pancreatic cell developmentGO:000332310.0BMP4, BMP6
16smooth muscle tissue developmentGO:004874510.0BMP4, ENG
17response to retinoic acidGO:003252610.0BMP4, BMP6
18positive regulation of cell differentiationGO:004559710.0BMP2, BMP4
19positive regulation of cartilage developmentGO:006103610.0BMP2, BMP4
20odontogenesis of dentin-containing toothGO:00424759.9BMP2, BMP4
21proteoglycan metabolic processGO:00060299.9BMP2, COL11A1
22cellular response to mechanical stimulusGO:00712609.9BMP4, BMP6
23cellular response to growth factor stimulusGO:00713639.9BMP2, BMP4
24collagen fibril organizationGO:00301999.8COL11A1, COL11A2
25branching involved in prostate gland morphogenesisGO:00604429.8BMP4, CD44
26chondrocyte differentiationGO:00020629.8BMP2, BMP4
27positive regulation of BMP signaling pathwayGO:00305139.8BMP4, ENG
28endochondral ossificationGO:00019589.8BMP4, BMP6
29growthGO:00400079.6BMP2, BMP4, BMP6
30positive regulation of bone mineralizationGO:00305019.6BMP2, BMP4, BMP6
31SMAD protein signal transductionGO:00603959.5BMP2, BMP4, BMP6
32ossificationGO:00015039.5BMP6, COL11A1, COL11A2
33positive regulation of osteoblast differentiationGO:00456699.5BMP2, BMP4, BMP6
34positive regulation of endothelial cell proliferationGO:00019389.4BMP2, BMP4, BMP6
35osteoblast differentiationGO:00016499.4BMP2, BMP4, BMP6
36positive regulation of protein phosphorylationGO:00019349.4BMP2, BMP4, ENG
37cellular response to BMP stimulusGO:00717739.2BMP2, BMP4, BMP6
38branching involved in ureteric bud morphogenesisGO:00016589.2BMP2, BMP4, CD44
39heart developmentGO:00075079.1BMP2, BMP4, ENG
40positive regulation of ERK1 and ERK2 cascadeGO:00703749.1BMP2, BMP4, CD44
41positive regulation of gene expressionGO:00106289.0BMP2, BMP4, CD44
42positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.0BMP2, BMP4, BMP6, ENG
43positive regulation of neuron differentiationGO:00456668.9BMP2, BMP4, BMP6
44skeletal system developmentGO:00015018.8BMP2, BMP4, BMP6, COL11A2
45BMP signaling pathwayGO:00305098.8BMP2, BMP4, BMP6, ENG
46cartilage developmentGO:00512168.6BMP6, CD44, COL11A1, COL11A2
47extracellular matrix disassemblyGO:00226178.4CD44, COL11A1, COL11A2, ENG
48positive regulation of transcription from RNA polymerase II promoterGO:00459448.4BMP2, BMP4, BMP6, ENG
49negative regulation of transcription from RNA polymerase II promoterGO:00001228.1BMP2, BMP4, BMP6, ENG
50extracellular matrix organizationGO:00301987.9BMP2, BMP4, CD44, COL11A1, COL11A2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1co-receptor bindingGO:00397069.9BMP2, BMP4
2protein binding, bridgingGO:00306749.8COL11A1, COL11A2
3extracellular matrix structural constituentGO:00052019.7COL11A1, COL11A2
4transforming growth factor beta receptor bindingGO:00051609.4BMP2, BMP4, BMP6
5BMP receptor bindingGO:00707009.4BMP2, BMP4, BMP6
6cytokine activityGO:00051259.2BMP2, BMP4, BMP6
7growth factor activityGO:00080839.2BMP2, BMP4, BMP6

Sources for Fibrochondrogenesis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet