MCID: FBR046
MIFTS: 29

Fibrosis of Extraocular Muscles, Congenital, 1 malady

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

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

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

Name: Fibrosis of Extraocular Muscles, Congenital, 1 49 11 24 67
Fibrosis of Extraocular Muscles, Congenital, 3b 49 22 24 67
Cfeom3b 22 67
Blepharoptosis with Absent Eye Movements 67
 
Congenital Ophthalmoplegia 67
Cfeom 3b 22
Cfeom1 67
Feom1 67


Classifications:



External Ids:

OMIM49 135700

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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OMIM:49 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 fibrosis of extraocular muscles, congenital, 3b, 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). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 Fibrosis of extraocular muscles, congenital, 1: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. Fibrosis of extraocular muscles, congenital, 3B: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy.

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:

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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Interventional clinical trials:

Search ClinicalTrials, 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 3b22
2 Fibrosis of Extraocular Muscles, Congenital, 3b24
3 Fibrosis of Extraocular Muscles, Congenital, 124

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

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

67
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:

5
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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet