FEOM
MCID: FBR046
MIFTS: 37

Fibrosis of Extraocular Muscles, Congenital, 1 (FEOM) malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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OMIM:46 Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes...135700 more...

MalaCards based summary: Fibrosis of Extraocular Muscles, Congenital, 1, also known as congenital fibrosis of extraocular muscles, is related to congenital fibrosis of the extraocular muscles and moebius syndrome, and has symptoms including autosomal dominant inheritance, esotropia and exotropia. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (kinesin family member 21A), and among its related pathways are Development Slit Robo signaling and Regulation of CFTR activity norm and CF . The compounds vinblastine sulfate and vinorelbine ditartrate have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype respiratory system.

Descriptions from OMIM:46 609428,609612,600638,602078,609384

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 1

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Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Fibrosis of Extraocular Muscles, Congenital, 1, Aliases & Descriptions:

Name: Fibrosis of Extraocular Muscles, Congenital, 1 46
Congenital Fibrosis of Extraocular Muscles 48 46 61
 
Feom 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic


External Ids:

ICD10 via Orphanet27 H49.8

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

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Graphical network of diseases related to Fibrosis of Extraocular Muscles, Congenital, 1:



Diseases related to fibrosis of extraocular muscles, congenital, 1

Symptoms for Fibrosis of Extraocular Muscles, Congenital, 1

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Symptoms by clinical synopsis from OMIM:

135700

Clinical features from OMIM:

609428,609612,135700,600638,602078,609384

HPO human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 1:

(show all 22)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 esotropia HP:0000565
3 exotropia HP:0000577
4 compensatory chin elevation HP:0001477
5 bilateral ptosis HP:0001488
6 congenital fibrosis of extraocular muscles HP:0001491
7 restrictive external ophthalmoplegia HP:0007936
8 levator palpebrae superioris atrophy HP:0012241
9 superior rectus atrophy HP:0012242
10 autosomal recessive inheritance HP:0000007
11 ptosis HP:0000508
12 syndactyly HP:0001159
13 compensatory chin elevation HP:0001477
14 congenital fibrosis of extraocular muscles HP:0001491
15 carpal bone aplasia HP:0004231
16 postaxial oligodactyly HP:0006210
17 nonprogressive restrictive external ophthalmoplegia HP:0007831
18 restrictive external ophthalmoplegia HP:0007936
19 carpal synostosis HP:0009702
20 autosomal dominant inheritance HP:0000006
21 ptosis HP:0000508
22 exotropia HP:0000577

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 1

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Drug clinical trials:

Search ClinicalTrials for Fibrosis of Extraocular Muscles, Congenital, 1

Search NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 1

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 1

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Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

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MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 1:

32
Eye

Animal Models for Fibrosis of Extraocular Muscles, Congenital, 1 or affiliated genes

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MGI Mouse Phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5PHOX2A, TUBB2B, TUBB3

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

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Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

63
id Symbol AA change Variation ID SNP ID
1KIF21Ap.Met356ThrVAR_019399
2KIF21Ap.Met947ArgVAR_019400
3KIF21Ap.Met947ValVAR_019401
4KIF21Ap.Arg954GlnVAR_019402
5KIF21Ap.Arg954TrpVAR_019403
6KIF21Ap.Ile1010ThrVAR_019404
7KIF21Ap.Met947ThrVAR_027021

Clinvar genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

7
id Gene Name Type Significance SNP ID Assembly Location
1KIF21ANM_001173464.1(KIF21A): c.2860C> T (p.Arg954Trp)single nucleotide variantPathogenicrs121912585GRCh37Chr 12, 39726207: 39726207
2KIF21ANM_001173464.1(KIF21A): c.2861G> A (p.Arg954Gln)single nucleotide variantPathogenicrs121912586GRCh37Chr 12, 39726206: 39726206
3KIF21ANM_001173464.1(KIF21A): c.3029T> C (p.Ile1010Thr)single nucleotide variantPathogenicrs121912587GRCh37Chr 12, 39726038: 39726038
4KIF21ANM_001173464.1(KIF21A): c.1067T> C (p.Met356Thr)single nucleotide variantPathogenicrs121912588GRCh37Chr 12, 39752128: 39752128
5KIF21ANM_001173464.1(KIF21A): c.2839A> G (p.Met947Val)single nucleotide variantPathogenicrs121912589GRCh37Chr 12, 39726410: 39726410
6KIF21ANM_001173464.1(KIF21A): c.2840T> G (p.Met947Arg)single nucleotide variantPathogenicrs121912590GRCh37Chr 12, 39726409: 39726409

Expression for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

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Expression patterns in normal tissues for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 1.

Pathways for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

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Pathways related to Fibrosis of Extraocular Muscles, Congenital, 1 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 repulsion59
Pathogenic Escherichia coli infection37
9.1TUBB2B, TUBB3
2
Show member pathways
9.1TUBB2B, TUBB3
3
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B59
9.1TUBB3, TUBB2B
49.1TUBB2B, TUBB3
5
Show member pathways
9.1TUBB2B, TUBB3
6
Show member pathways
Cytoskeleton remodeling Neurofilaments59
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 Pathway59
9.1TUBB2B, TUBB3
12
Show member pathways
9.1TUBB2B, TUBB3

Compounds for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

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Compounds related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinblastine sulfate609.2TUBB2B, TUBB3
2vinorelbine ditartrate609.1TUBB2B, TUBB3
3docetaxel44 50 60 1212.1TUBB2B, TUBB3
4epothilone b44 60 1211.0TUBB3, TUBB2B
5colchicine44 60 3 29 1212.8TUBB2B, TUBB3

GO Terms for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

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Cellular components related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:0058748.6KIF21A, TUBB2B, TUBB3

Biological processes related to Fibrosis of Extraocular Muscles, Congenital, 1 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 Fibrosis of Extraocular Muscles, Congenital, 1 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 Fibrosis of Extraocular Muscles, Congenital, 1

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Sources for Fibrosis of Extraocular Muscles, Congenital, 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet