MCID: FBR025
MIFTS: 49

Fibrochondrogenesis malady

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

Aliases & Classifications for Fibrochondrogenesis

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Sources:
65UMLS, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 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 2 65
Fibrochondrogenesis-2 23
Fibrochondrogenesis 1 65
 
Fibrochondrogenesis-1 23
Fbcg2 23
Fbcg1 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 2, 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 top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1fibrochondrogenesis 212.6
2fibrochondrogenesis 112.6
3weissenbacher-zweymuller syndrome10.2COL11A1, COL11A2
4vitreoretinochoroidopathy dominant10.2COL11A1, COL9A2
5schizophrenia10.1
6obesity10.1
7celiac disease10.1
8cystic fibrosis10.1
9retinoblastoma10.1
10chronic lymphocytic leukemia10.1
11glomerulonephritis10.1
12leukemia10.1
13foodborne botulism10.1
14lymphoma10.1
15myelomeningocele10.1
16dermatomyositis10.1
17gastric ulcer10.1
18chlamydia10.1
19botulism10.1
20acute thyroiditis10.1
21hemangiopericytoma10.1
22neurilemmoma10.1
23gastritis10.1
24lymphocytic gastritis10.1
25familial retinoblastoma10.1
26pneumonia10.1
27thyroiditis10.1
28lupus erythematosus10.1
29growth hormone deficiency10.1
30isolated growth hormone deficiency10.1
31neurosarcoidosis10.1
32discoid lupus erythematosus10.1
33skeleto cardiac syndrome with thrombocytopenia10.1COL11A2, SOX9
34exercise-induced hyperinsulinism10.1COL9A1, COL9A2
35multiple pterygium syndrome, dominant10.1COL9A1, COL9A2
36trichorhinophalangeal syndrome, type ii10.0COL11A2, SOX9
37myasthenic syndrome, congenital, 2a, slow-channel10.0COL11A1, COL11A2, SOX9
38macrogyria, pseudobulbar palsy and mental retardation10.0COL11A1, COL11A2, COL9A1
39bone deterioration disease10.0COL9A2, SOX9
40smed strudwick type9.9ACAN, COL11A1
41stickler syndrome9.9ACAN, COL11A1
42intervertebral disc disease9.9COL11A1, COL9A2
43delayed sleep phase syndrome9.9COL11A2, COL9A2, SOX9
44hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome9.9COL11A1, COL9A1, COL9A2
45dengue disease9.9ACAN, SOX9
46bone resorption disease9.8ACAN, SOX9
47thymus gland disease9.8COL11A1, COL9A1
48hypochondroplasia9.7ACAN, SOX9
49acromesomelic dysplasia9.7COL11A1, COL11A2, COL9A1, COL9A2
50ischemic bone disease9.6ACAN, COL9A2, SOX9

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, T cells, Bone marrow

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
FLLL12 induces apoptosis in lung cancer cells through a p53/p73-independent but death receptor 5-dependent pathway. (25917567)
2015
2
Immunolocalization of Smurf1 in Hirano bodies. (24238996)
2014
3
Knowledge on plants used traditionally in the treatment of tuberculosis in Uganda. (24365640)
2014
4
Syndrome of inappropriate antidiuretic hormone secretion associated with adult T-cell leukaemia/lymphoma. (24735057)
2014
5
Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas. (24120389)
2013
6
Determinants of utilization of sufficient tetanus toxoid immunization during pregnancy: evidence from the Kenya Demographic and Health Survey, 2008-2009. (23161213)
2013
7
Chronic meningitis with multiple cranial neuropathies: A rare initial presentation of Wegener's granulomatosis. (24101832)
2013
8
Multibacillary leprosy: erythema as the only clinical presentation. (22490424)
2012
9
Sulforaphane inhibits de novo synthesis of IL-8 and MCP-1 in human epithelial cells generated by cigarette smoke extract. (21401388)
2011
10
Heparin-induced thrombocytopenia: real-world issues. (22102268)
2011
11
Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders. (20218787)
2010
12
Oxidative status and paraoxonase activity in children with asthma. (19796573)
2009
13
BRCA1 regulates human mammary stem/progenitor cell fate. (18230721)
2008
14
Thyroid cancer in toxic and non-toxic multinodular goiter. (17699987)
2007
15
Potential predictive patterns of minimal residual disease detected by immunohistochemistry on bone marrow biopsy specimens during a long-term follow-up in patients treated with cladribine for hairy cell leukemia. (16519567)
2006
16
The interaction between the adaptor protein APS and Enigma is involved in actin organisation. (15946664)
2005
17
A comparison of the sensitivity of diagnostic criteria for polymyalgia rheumatica. (15769919)
2005
18
Lithium induces NF-kappa B activation and interleukin-8 production in human intestinal epithelial cells. (11756416)
2002
19
Risk factors of aspiration pneumonia in Alzheimer's disease patients. (11490146)
2001
20
Rapid isolation of chromosomal breakpoints from patients with t(4;11) acute lymphoblastic leukemia: implications for basic and clinical research. (10416593)
1999
21
Individual and combined effects of calciotropic hormones and growth factors on mineral metabolism in embryonic chick tibiae. (9201516)
1997
22
Anaesthetic considerations for the patient with cri du chat syndrome. (7489425)
1995
23
Four proline-rich sequences of the guanine-nucleotide exchange factor C3G bind with unique specificity to the first Src homology 3 domain of Crk. (7806500)
1994
24
Multiple inverted papilloma of the urinary bladder associated with glandular metaplasia of colic type. A case report. (1295609)
1992
25
Homologous genes for mouse 4.5S hybRNA are found in all eukaryotes and their low molecular weight RNA transcripts intermolecularly hybridize with eukaryotic 18S ribosomal RNAs. (3399384)
1988

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