MCID: FBR025
MIFTS: 35

Fibrochondrogenesis malady

Bone diseases, Fetal diseases categories

Summaries for Fibrochondrogenesis

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Fibrochondrogenesis is a rareautosomal recessive form of osteochondrodysplasia, causing abnormal fibrous... more...

MalaCards: Fibrochondrogenesis is related to fibrochondrogenesis 2 and fibrochondrogenesis 1, and has symptoms including anteverted nares/nostrils, microstomia/little mouth and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Fibrochondrogenesis is COL11A1 (collagen, type XI, alpha 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Amoebiasis. Affiliated tissues include bone and lung.

Description from OMIM:46 228520,614524

Aliases & Classifications for Fibrochondrogenesis

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

fibrochondrogenesis 42 22 46 48 60


External Ids:

ICD10 via Orphanet26 Q77.7
SNOMED-CT via Orphanet57 17144009
UMLS via Orphanet61 C0265282

Related Diseases for Fibrochondrogenesis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 2 Fibrochondrogenesis 1

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

idRelated DiseaseScoreTop Affiliating Genes
1fibrochondrogenesis 210.4
2fibrochondrogenesis 110.2
3marshall syndrome10.0COL11A1
4stickler syndrome10.0COL11A2, COL11A1
5cleft palate10.0COL11A2, COL11A1
6sensorineural hearing loss10.0COL11A2, COL11A1
7myopia 610.0COL11A2, COL11A1

Graphical network of diseases related to Fibrochondrogenesis:



Diseases related to fibrochondrogenesis

Clinical Features for Fibrochondrogenesis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

228520,614524

Clinical synopsis from OMIM:

228520

Symptoms:

48 (show all 30)
  • 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
  • depressed nasal bridge
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • 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
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Fibrochondrogenesis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Fibrochondrogenesis

Drug clinical trials:

Search ClinicalTrials for Fibrochondrogenesis

Search NIH Clinical Center for Fibrochondrogenesis

Search CenterWatch for Fibrochondrogenesis

Genetic Tests for Fibrochondrogenesis

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Sources:
22GTR
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Genetic tests related to Fibrochondrogenesis:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis22

Anatomical Context for Fibrochondrogenesis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Fibrochondrogenesis:

32
Bone, Lung

Animal Models for Fibrochondrogenesis or affiliated genes

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Publications for Fibrochondrogenesis

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Genetic Variations for Fibrochondrogenesis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Fibrochondrogenesis:

62
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly796ArgVAR_065904
2COL11A1p.Gly1042ArgVAR_065905

Expression for genes affiliated with Fibrochondrogenesis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome, 51QIAGEN, 29KEGG
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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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Sources:
16Gene Ontology
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Cellular components related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.6COL11A2, COL11A1
2collagen type XIGO:0055929.3COL11A2, COL11A1

Biological processes related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:0301999.6COL11A2, COL11A1
2sensory perception of soundGO:0076059.6COL11A2, COL11A1
3collagen catabolic processGO:0305749.5COL11A2, COL11A1
4extracellular matrix disassemblyGO:0226179.3COL11A2, COL11A1

Molecular functions related to Fibrochondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.6COL11A2, COL11A1

Products for genes affiliated with Fibrochondrogenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet