MCID: FBR025
MIFTS: 48

Fibrochondrogenesis malady

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

Aliases & Classifications for Fibrochondrogenesis

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 38MeSH, 47NIH Rare Diseases, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fibrochondrogenesis:

Name: Fibrochondrogenesis 11 47 25 53 26 12 38 13 67
Fibrochondrogenesis-1 25
Fibrochondrogenesis-2 25
Fibrochondrogenesis 2 67
 
Fibrochondrogenesis 1 67
Fbcg1 25
Fbcg2 25

Characteristics:

Orphanet epidemiological data:

53
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
MeSH38 C562524
Orphanet53 ORPHA2021
SNOMED-CT61 17144009
ICD10 via Orphanet30 Q77.7
UMLS via Orphanet68 C0265282

Summaries for Fibrochondrogenesis

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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-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 COL11A1 (Collagen Type XI Alpha 1 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 limbs/digits/tail.

Wikipedia:70 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

Related Diseases for Fibrochondrogenesis

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Graphical network of diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Symptoms for Fibrochondrogenesis

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Human phenotypes related to Fibrochondrogenesis:

 63 53 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
2 round face63 53 hallmark (90%) Very frequent (99-80%) HP:0000311
3 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
4 proptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000520
5 abnormality of the ribs63 53 hallmark (90%) Very frequent (99-80%) HP:0000772
6 narrow chest63 53 hallmark (90%) Very frequent (99-80%) HP:0000774
7 abnormal diaphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0000940
8 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
9 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
10 micromelia63 53 hallmark (90%) Occasional (29-5%) HP:0002983
11 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
12 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
13 enlarged thorax63 hallmark (90%) HP:0100625
14 narrow mouth63 53 typical (50%) Frequent (79-30%) HP:0000160
15 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
16 hearing abnormality63 53 typical (50%) Frequent (79-30%) HP:0000364
17 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
18 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
19 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
20 sprengel anomaly63 typical (50%) HP:0000912
21 anonychia63 typical (50%) HP:0001798
22 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
23 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
24 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
25 plagiocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001357
26 omphalocele63 53 occasional (7.5%) Occasional (29-5%) HP:0001539
27 camptodactyly of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0100490
28 wide anterior fontanel53 Very frequent (99-80%)
29 low-set ears53 Frequent (79-30%)
30 short ribs53 Very frequent (99-80%)
31 hypoplastic scapulae53 Frequent (79-30%)
32 broad ribs53 Very frequent (99-80%)
33 bell-shaped thorax53 Very frequent (99-80%)
34 hypoplastic fingernail53 Frequent (79-30%)

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 Fibrochondrogenesis26

Anatomical Context for Fibrochondrogenesis

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MalaCards organs/tissues related to Fibrochondrogenesis:

35
Bone, Lung, Small intestine

Animal Models for Fibrochondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Fibrochondrogenesis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5BMP2, BMP4, COL11A1, COL11A2
2MP:00053718.8BMP2, BMP4, CD44, COL11A1, SLC35D1
3MP:00053828.2BMP2, BMP4, COL11A1, COL11A2, ENG, SLC35D1
4MP:00053818.0BMP2, BMP4, CD44, COL11A1, ENG, SLC35D1
5MP:00053907.2BMP2, BMP4, BMP6, CD44, COL11A1, COL11A2
6MP:00053787.2BMP2, 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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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)SNVPathogenicrs397514455GRCh37Chr 1, 103412440: 103412440
3COL11A1NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg)SNVPathogenicrs387906611GRCh37Chr 1, 103455118: 103455118
4COL11A1COL11A1, GLY1315TERundetermined variantPathogenicChr na, -1: -1

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

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1skeletal system morphogenesisGO:004870510.3COL11A1, COL11A2
2proteoglycan metabolic processGO:000602910.3BMP2, COL11A1
3growthGO:004000710.2BMP2, BMP6
4mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.1BMP2, BMP4
5positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.1BMP2, BMP4
6BMP signaling pathway involved in heart inductionGO:000313010.1BMP2, BMP4
7telencephalon regionalizationGO:002197810.1BMP2, BMP4
8cardiac muscle cell differentiationGO:005500710.1BMP2, BMP4
9positive regulation of ossificationGO:004577810.1BMP2, BMP4
10telencephalon developmentGO:002153710.0BMP2, BMP4
11negative regulation of cell cycleGO:004578610.0BMP2, BMP4
12positive regulation of DNA-dependent DNA replicationGO:200010510.0BMP4, BMP6
13collagen fibril organizationGO:003019910.0COL11A1, COL11A2
14positive regulation of cell differentiationGO:00455979.9BMP2, BMP4
15positive regulation of cartilage developmentGO:00610369.9BMP2, BMP4
16embryonic skeletal system morphogenesisGO:00487049.9BMP4, COL11A1
17positive regulation of SMAD protein import into nucleusGO:00603919.9BMP4, BMP6
18endocardial cushion morphogenesisGO:00032039.9BMP2, ENG
19positive regulation of protein bindingGO:00320929.9BMP2, BMP4
20positive regulation of endothelial cell differentiationGO:00456039.9BMP4, BMP6
21branching involved in ureteric bud morphogenesisGO:00016589.9BMP2, BMP4
22odontogenesis of dentin-containing toothGO:00424759.8BMP2, BMP4
23regulation of odontogenesis of dentin-containing toothGO:00424879.8BMP2, BMP4
24endochondral ossificationGO:00019589.8BMP4, BMP6
25response to retinoic acidGO:00325269.7BMP4, BMP6
26type B pancreatic cell developmentGO:00033239.7BMP4, BMP6
27ossificationGO:00015039.7BMP6, COL11A1, COL11A2
28embryonic skeletal system developmentGO:00487069.7BMP4, SLC35D1
29positive regulation of bone mineralizationGO:00305019.6BMP2, BMP4, BMP6
30bone developmentGO:00603489.6BMP4, ENG
31SMAD protein signal transductionGO:00603959.6BMP2, BMP4, BMP6
32chondrocyte differentiationGO:00020629.6BMP2, BMP4, COL11A2
33positive regulation of collagen biosynthetic processGO:00329679.6BMP4, ENG
34positive regulation of BMP signaling pathwayGO:00305139.5BMP4, ENG
35positive regulation of endothelial cell proliferationGO:00019389.5BMP2, BMP4, BMP6
36positive regulation of osteoblast differentiationGO:00456699.4BMP2, BMP4, BMP6
37smooth muscle tissue developmentGO:00487459.4BMP4, ENG
38cellular response to BMP stimulusGO:00717739.3BMP2, BMP4, BMP6
39osteoblast differentiationGO:00016499.2BMP2, BMP4, BMP6
40cartilage developmentGO:00512169.2BMP6, CD44, COL11A1, COL11A2
41positive regulation of protein phosphorylationGO:00019349.1BMP2, BMP4, ENG
42cellular response to mechanical stimulusGO:00712609.1BMP4, BMP6, ENG
43positive regulation of ERK1 and ERK2 cascadeGO:00703748.9BMP2, BMP4, CD44
44skeletal system developmentGO:00015018.9BMP2, BMP4, BMP6, COL11A2
45positive regulation of neuron differentiationGO:00456668.9BMP2, BMP4, BMP6
46negative regulation of gene expressionGO:00106298.9BMP2, BMP4, ENG
47heart developmentGO:00075078.7BMP2, BMP4, ENG
48positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.7BMP2, BMP4, BMP6, ENG
49BMP signaling pathwayGO:00305098.5BMP2, BMP4, BMP6, ENG
50positive regulation of gene expressionGO:00106288.3BMP2, BMP4, ENG

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

idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:00707009.5BMP2, BMP4, BMP6
2transforming growth factor beta receptor bindingGO:00051609.5BMP2, BMP4, BMP6
3co-receptor bindingGO:00397069.4BMP2, BMP4
4cytokine activityGO:00051259.0BMP2, BMP4, BMP6
5growth factor activityGO:00080838.9BMP2, BMP4, BMP6

Sources for Fibrochondrogenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet