FEOM
MCID: CNG142
MIFTS: 33

Congenital Fibrosis of the Extraocular Muscles 2 (FEOM) malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
Download this MalaCard

Summaries for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Congenital Fibrosis of the Extraocular Muscles 2, also known as fibrosis of extraocular muscles, congenital, 2, is related to congenital fibrosis of the extraocular muscles and hypotropia. An important gene associated with Congenital Fibrosis of the Extraocular Muscles 2 is PHOX2A (paired-like homeobox 2a), and among its related pathways are Development Slit Robo signaling and Regulation of CFTR activity norm and CF . The compounds vinorelbine ditartrate and vinblastine sulfate have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype respiratory system.

Description from OMIM:47 602078, 609384, 609428, 609612, 135700 600638 more

Aliases & Classifications for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
20GeneTests, 22GTR, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic


Aliases & Descriptions:

congenital fibrosis of the extraocular muscles 2 20 22
fibrosis of extraocular muscles, congenital, 2 47 62
congenital fibrosis of extraocular muscles 49
feom 49


External Ids:

ICD10 via Orphanet26 H49.8

Related Diseases for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Congenital Fibrosis of the Extraocular Muscles 2:



Diseases related to congenital fibrosis of the extraocular muscles 2

Symptoms for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

602078

Clinical features from OMIM:

602078,609384,609428,609612,135700,600638

Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Congenital Fibrosis of the Extraocular Muscles 2

Search NIH Clinical Center for Congenital Fibrosis of the Extraocular Muscles 2

Genetic Tests for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Congenital Fibrosis of the Extraocular Muscles 2:

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 220
2 Fibrosis of Extraocular Muscles, Congenital, 222

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Fibrosis of the Extraocular Muscles 2:

33
Eye

Animal Models for Congenital Fibrosis of the Extraocular Muscles 2 or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Congenital Fibrosis of the Extraocular Muscles 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6PHOX2A, TUBB2B, TUBB3

Publications for Congenital Fibrosis of the Extraocular Muscles 2

About this section

Variations for Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Congenital Fibrosis of the Extraocular Muscles 2:

64
id Symbol AA change Variation ID SNP ID
1PHOX2Ap.Ala72ValVAR_019014

Clinvar genetic disease variations for Congenital Fibrosis of the Extraocular Muscles 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1PHOX2ANM_005169.3(PHOX2A): c.215C> T (p.Ala72Val)single nucleotide variantPathogenicrs104894269GRCh37Chr 11, 71954834: 71954834

Expression for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

Search GEO for disease gene expression data for Congenital Fibrosis of the Extraocular Muscles 2.

Pathways for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 53QIAGEN, 55Reactome
See all sources

Pathways related to Congenital Fibrosis of the Extraocular Muscles 2 according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection38
9.1TUBB2B, TUBB3
2
Show member pathways
9.1TUBB2B, TUBB3
3
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
9.1TUBB3, TUBB2B
49.1TUBB2B, TUBB3
5
Show member pathways
9.1TUBB2B, TUBB3
6
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.1TUBB3, TUBB2B
79.1TUBB2B, TUBB3
89.1TUBB2B, TUBB3
99.1TUBB2B, TUBB3
10
Show member pathways
9.1TUBB3, TUBB2B
11
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway60
9.1TUBB2B, TUBB3
12
Show member pathways
9.1TUBB2B, TUBB3

Compounds for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 3BitterDB, 29IUPHAR
See all sources

Compounds related to Congenital Fibrosis of the Extraocular Muscles 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinorelbine ditartrate619.2TUBB3, TUBB2B
2vinblastine sulfate619.1TUBB3, TUBB2B
3docetaxel45 51 61 1112.1TUBB3, TUBB2B
4epothilone b45 61 1111.0TUBB3, TUBB2B
5colchicine45 61 3 29 1112.8TUBB3, TUBB2B

GO Terms for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Fibrosis of the Extraocular Muscles 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:0058748.5KIF21A, TUBB2B, TUBB3

Biological processes related to Congenital Fibrosis of the Extraocular Muscles 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.1TUBB2B, TUBB3
2protein foldingGO:0064579.1TUBB2B, TUBB3
3microtubule-based processGO:0070179.0TUBB2B, TUBB3
4de novo posttranslational protein foldingGO:0510848.8TUBB2B, TUBB3

Molecular functions related to Congenital Fibrosis of the Extraocular Muscles 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:0039249.1TUBB2B, TUBB3
2structural constituent of cytoskeletonGO:0052008.8TUBB2B, TUBB3

Products for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Fibrosis of the Extraocular Muscles 2

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet