MCID: FBR025
MIFTS: 42

Fibrochondrogenesis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Fibrochondrogenesis

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Wikipedia:65 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

MalaCards based summary: Fibrochondrogenesis is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including large fontanelle/delayed fontanelle closure, round face and proptosis/exophthalmos. An important gene associated with Fibrochondrogenesis is COL11A1 (collagen, type XI, alpha 1), and among its related pathways are Focal adhesion and Degradation of the extracellular matrix. Affiliated tissues include bone, lung and small intestine.

Descriptions from OMIM:46 228520,614524

Aliases & Classifications for Fibrochondrogenesis

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Fibrochondrogenesis, Aliases & Descriptions:

Name: Fibrochondrogenesis 42 22 46 48 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
fibrochondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q77.7
UMLS via Orphanet63 C0265282

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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Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520,614524

Symptoms:

48 (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 75)
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
29 autosomal recessive inheritance HP:0000007
30 narrow mouth HP:0000160
31 cleft palate HP:0000175
32 wide anterior fontanel HP:0000260
33 malar flattening HP:0000272
34 long philtrum HP:0000343
35 low-set ears HP:0000369
36 abnormality of the pinna HP:0000377
37 anteverted nares HP:0000463
38 short neck HP:0000470
39 megalocornea HP:0000485
40 proptosis HP:0000520
41 short ribs HP:0000773
42 hypoplastic scapulae HP:0000882
43 thin ribs HP:0000883
44 long clavicles HP:0000890
45 anterior rib cupping HP:0000907
46 posterior rib cupping HP:0000922
47 platyspondyly HP:0000926
48 dumbbell-shaped long bone HP:0000947
49 protuberant abdomen HP:0001538
50 omphalocele HP:0001539
51 patent foramen ovale HP:0001655
52 short foot HP:0001773
53 hydrops fetalis HP:0001789
54 hypoplastic toenails HP:0001800
55 hypoplastic fingernail HP:0001804
56 frontal bossing HP:0002007
57 short long bones HP:0003026
58 fibular hypoplasia HP:0003038
59 hypoplastic ischia HP:0003175
60 short nose HP:0003196
61 narrow greater sacrosciatic notches HP:0003375
62 clinodactyly of the 5th finger HP:0004209
63 short palm HP:0004279
64 thoracic hypoplasia HP:0005257
65 depressed nasal bridge HP:0005280
66 widely patent coronal suture HP:0005442
67 widely patent sagittal suture HP:0005476
68 broad long bones HP:0005622
69 thin clavicles HP:0006645
70 posterior vertebral hypoplasia HP:0008451
71 rhizomelia HP:0008905
72 joint contracture of the hand HP:0009473
73 camptodactyly HP:0012385
74 broad ischia HP:0100865
75 small hand HP:0200055

Drugs & Therapeutics for Fibrochondrogenesis

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Drug clinical trials:

Search ClinicalTrials for Fibrochondrogenesis

Search NIH Clinical Center for Fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

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Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis22

Anatomical Context for Fibrochondrogenesis

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MalaCards organs/tissues related to Fibrochondrogenesis:

32
Bone, Lung, Small intestine

Animal Models for Fibrochondrogenesis or affiliated genes

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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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UniProtKB/Swiss-Prot genetic disease variations for Fibrochondrogenesis:

64
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly796ArgVAR_065904
2COL11A1p.Gly1042ArgVAR_065905

Clinvar genetic disease variations for Fibrochondrogenesis:

6
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
5COL11A2COL11A2, IVS18, 1-BP INS, +3insertionPathogenic
6COL11A2COL11A2, 9-BP DEL, NT2899deletionPathogenic

Expression for genes affiliated with Fibrochondrogenesis

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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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Compounds 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/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
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Sources for Fibrochondrogenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet