MCID: FBR046
MIFTS: 19

Fibrosis of Extraocular Muscles, Congenital, 1 malady

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

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

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

Name: Fibrosis of Extraocular Muscles, Congenital, 1 45 10 22
 
Fibrosis of Extraocular Muscles, Congenital, 3b 45 20 22


Classifications:

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


External Ids:

OMIM45 135700

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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OMIM:45 Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes... (135700) more...

MalaCards based summary: Fibrosis of Extraocular Muscles, Congenital, 1, is also known as fibrosis of extraocular muscles, congenital, 3b, 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). Affiliated tissues include eye.

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

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Symptoms for Fibrosis of Extraocular Muscles, Congenital, 1

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Symptoms by clinical synopsis from OMIM:

135700

Clinical features from OMIM:

135700

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

(show all 9)
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

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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Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 1:

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 3b20
2 Fibrosis of Extraocular Muscles, Congenital, 3b22
3 Fibrosis of Extraocular Muscles, Congenital, 122

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

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

31
Eye

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

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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:

62
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:

6
id Gene Variation 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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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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Compounds for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

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

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

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  • Antibodies
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Sources for Fibrosis of Extraocular Muscles, Congenital, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet