MCID: FBR025
MIFTS: 47

Fibrochondrogenesis malady

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

Aliases & Classifications for Fibrochondrogenesis

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Sources:
10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 27ICD10, 36MeSH, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fibrochondrogenesis:

Name: Fibrochondrogenesis 10 11 45 23 12 51 24 65
Fibrochondrogenesis-1 23
Fibrochondrogenesis-2 23
Fibrochondrogenesis 1 65
 
Fibrochondrogenesis 2 65
Fbcg1 23
Fbcg2 23

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0060465
ICD1027 Q77.7
MeSH36 C562524
Orphanet51 2021
UMLS via Orphanet66 C0265282
ICD10 via Orphanet28 Q77.7
UMLS65 C0265282, C3278138, C3281128

Summaries for Fibrochondrogenesis

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Genetics Home Reference:23 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 COL11A2 (Collagen Type XI Alpha 2), and among its related pathways are NCAM1 interactions and Endochondral Ossification. Affiliated tissues include bone, lung and thyroid, and related mouse phenotypes are craniofacial and limbs/digits/tail.

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

Related Diseases for Fibrochondrogenesis

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Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1fibrochondrogenesis 212.2
2fibrochondrogenesis 112.2
3weissenbacher-zweymuller syndrome10.4COL11A1, COL11A2
4vitreoretinochoroidopathy dominant10.2COL11A1, COL9A2
5skeleto cardiac syndrome with thrombocytopenia10.2COL11A2, SOX9
6exercise-induced hyperinsulinism10.1COL9A1, COL9A2
7multiple pterygium syndrome, dominant10.1COL9A1, COL9A2
8trichorhinophalangeal syndrome, type ii10.0COL11A2, SOX9
9myasthenic syndrome, congenital, 2a, slow-channel10.0COL11A1, COL11A2, SOX9
10macrogyria, pseudobulbar palsy and mental retardation10.0COL11A1, COL11A2, COL9A1
11bone deterioration disease10.0COL9A2, SOX9
12smed strudwick type9.9ACAN, COL11A1
13stickler syndrome9.9ACAN, COL11A1
14intervertebral disc disease9.9COL11A1, COL9A2
15delayed sleep phase syndrome9.8COL11A2, COL9A2, SOX9
16hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome9.8COL11A1, COL9A1, COL9A2
17dengue disease9.8ACAN, SOX9
18bone resorption disease9.7ACAN, SOX9
19thymus gland disease9.7COL11A1, COL9A1
20hypochondroplasia9.6ACAN, SOX9
21acromesomelic dysplasia9.5COL11A1, COL11A2, COL9A1, COL9A2
22ischemic bone disease9.4ACAN, COL9A2, SOX9
23osteochondrosis9.4ACAN, COL9A1, COL9A2
24osteochondritis dissecans9.4ACAN, COL9A1, SOX9
25epiphyseal dysplasia, multiple, 19.3ACAN, COL9A1, COL9A2
26respiratory syncytial virus infectious disease9.3ACAN, COL9A1, COL9A2
27splenic marginal zone lymphoma8.7ACAN, COL11A1, COL11A2, COL9A1, COL9A2
28gingival fibromatosis7.3ACAN, CD96, COL11A1, COL11A2, COL9A1, COL9A2

Graphical network of the top 20 diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Symptoms for Fibrochondrogenesis

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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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

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Anatomical Context for Fibrochondrogenesis

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MalaCards organs/tissues related to Fibrochondrogenesis:

33
Bone, Lung, Thyroid, Bone marrow, T cells, Thymus, Small intestine

Animal Models for Fibrochondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Fibrochondrogenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9COL11A1, COL11A2, SLC35D1, SOX9
2MP:00053718.4COL11A1, COL9A1, COL9A2, SLC35D1, SOX9
3MP:00053778.0COL11A1, COL11A2, COL9A1, COL9A2, SOX9
4MP:00053907.8COL11A1, COL11A2, COL9A1, COL9A2, SLC35D1, SOX9

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
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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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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Pathways related to Fibrochondrogenesis according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.4COL9A1, COL9A2
29.2ACAN, SOX9
39.2ACAN, SOX9
48.7COL11A1, COL11A2, COL9A1, COL9A2
5
Show member pathways
8.7COL11A1, COL11A2, COL9A1, COL9A2
6
Show member pathways
8.7COL11A1, COL11A2, COL9A1, COL9A2
78.6ACAN, COL9A1, COL9A2
8
Show member pathways
7.9ACAN, COL11A1, COL11A2, COL9A1, COL9A2
9
Show member pathways
7.9ACAN, COL11A1, COL11A2, COL9A1, COL9A2
10
Show member pathways
7.9ACAN, COL11A1, COL11A2, COL9A1, COL9A2
11
Show member pathways
7.4ACAN, COL11A1, COL11A2, COL9A1, COL9A2, SOX9

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 trimerGO:00055819.8COL11A1, COL11A2
2collagen type IX trimerGO:00055949.3COL9A1, COL9A2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1tissue homeostasisGO:000189410.2COL11A2, SOX9
2cartilage condensationGO:000150210.1COL11A1, SOX9
3chondrocyte developmentGO:00020639.9COL11A1, SOX9
4cartilage developmentGO:00512169.9COL11A1, SOX9
5sensory perception of soundGO:00076059.8COL11A1, COL11A2
6collagen catabolic processGO:00305749.6COL11A1, COL9A1
7chondrocyte differentiationGO:00020629.5COL11A2, COL9A1, SOX9
8collagen fibril organizationGO:00301999.4ACAN, COL11A1, COL11A2
9extracellular matrix organizationGO:00301988.4ACAN, COL11A1, COL11A2, SOX9
10extracellular matrix disassemblyGO:00226177.6ACAN, COL11A1, COL11A2, COL9A1, COL9A2

Sources for Fibrochondrogenesis

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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