MCID: FBR046
MIFTS: 15

Fibrosis of Extraocular Muscles, Congenital, 1 malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
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Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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47OMIM, 33MalaCards
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MalaCards: Fibrosis of Extraocular Muscles, Congenital, 1 is related to congenital fibrosis of the extraocular muscles and moebius syndrome. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (kinesin family member 21A). Affiliated tissues include eye.

Description from OMIM:47 135700

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

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47OMIM
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Classifications:

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


Aliases & Descriptions:

fibrosis of extraocular muscles, congenital, 1 47


Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

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17GeneCards, 18GeneDecks
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Symptoms for Fibrosis of Extraocular Muscles, Congenital, 1

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47OMIM
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Symptoms by clinical synopsis from OMIM:

135700

Clinical features from OMIM:

135700

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

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 1:

33
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

64
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:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibrosis of Extraocular Muscles, Congenital, 1

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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