MCID: FBR094
MIFTS: 24

Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement

Categories: Genetic diseases

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:

Name: Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 57 29 6 73
Fibrosis of Extraocular Muscles, Congenital, 3a 57 75 13
Cfeom3a 57 75
Congenital Fibrosis of Extraocular Muscles 3a with or Without Extraocular Involvement 75
Fibrosis of Extraocular Muscles, Congenital, Type 3a 40
Tubb3 Syndrome 75
Feom3 Locus 57
Feom3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
some patients have isolated cfeom
some patients have additional neurologic involvement


HPO:

32
fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

UniProtKB/Swiss-Prot : 75 Fibrosis of extraocular muscles, congenital, 3A: 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.

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement, also known as fibrosis of extraocular muscles, congenital, 3a, is related to fibrosis of extraocular muscles, congenital, 1 and cortical dysplasia, complex, with other brain malformations 1. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement is TUBB3 (Tubulin Beta 3 Class III). Affiliated tissues include eye, and related phenotypes are agenesis of corpus callosum and ptosis

OMIM : 57 Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (135700). CFEOM2 (602078) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008). Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. (600638)

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Diseases related to Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 10.9
2 cortical dysplasia, complex, with other brain malformations 1 10.9
3 moebius syndrome 10.0

Symptoms & Phenotypes for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
amblyopia
congenital fibrosis of the extraocular muscles (cfeom)
ptosis, variable (bilateral, unilateral, or absent)
ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral
eyes fixed in hypotrophic eye position (severe cases)
more
Muscle Soft Tissue:
levator palpebrae superioris atrophy
rectus superior atrophy
rectus medial atrophy

Skeletal Hands:
wrist contractures (in some)
finger contractures (in some)

Neurologic Peripheral Nervous System:
sensorimotor axonal peripheral neuropathy (in some)

Head And Neck Head:
compensatory chin elevation

Head And Neck Face:
facial weakness (in some)

Neurologic Central Nervous System:
delayed development (in some)
learning disabilities (in some)
dysgenesis or agenesis of the corpus callosum (in some)
dysgenesis of the anterior commissure (in some)
dysmorphic basal ganglia (in some)
more

Clinical features from OMIM:

600638

Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
2 ptosis 32 HP:0000508
3 facial palsy 32 occasional (7.5%) HP:0010628
4 global developmental delay 32 occasional (7.5%) HP:0001263
5 specific learning disability 32 occasional (7.5%) HP:0001328
6 amblyopia 32 HP:0000646
7 camptodactyly of finger 32 occasional (7.5%) HP:0100490
8 wrist flexion contracture 32 occasional (7.5%) HP:0001239
9 exotropia 32 HP:0000577
10 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477
11 joint contracture of the hand 32 occasional (7.5%) HP:0009473
12 compensatory chin elevation 32 HP:0001477
13 congenital fibrosis of extraocular muscles 32 HP:0001491
14 levator palpebrae superioris atrophy 32 HP:0012241
15 superior rectus atrophy 32 HP:0012242
16 nonprogressive restrictive external ophthalmoplegia 32 HP:0007831

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Search Clinical Trials , NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 29 TUBB3

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:

41
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Variations for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:

75
# Symbol AA change Variation ID SNP ID
1 TUBB3 p.Arg62Gln VAR_062758 rs864321714
2 TUBB3 p.Arg262Cys VAR_062759 rs267607162
3 TUBB3 p.Arg262His VAR_062760 rs864321716
4 TUBB3 p.Ala302Thr VAR_062761 rs267607163
5 TUBB3 p.Arg380Cys VAR_062762 rs864321717
6 TUBB3 p.Glu410Lys VAR_062763 rs267607165
7 TUBB3 p.Asp417His VAR_062764 rs267607164
8 TUBB3 p.Asp417Asn VAR_062765 rs267607164

ClinVar genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB3 NM_006086.3(TUBB3): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs267607162 GRCh37 Chromosome 16, 90001643: 90001643
2 TUBB3 NM_006086.3(TUBB3): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs267607162 GRCh38 Chromosome 16, 89935235: 89935235
3 TUBB3 NM_006086.3(TUBB3): c.904G> A (p.Ala302Thr) single nucleotide variant Pathogenic rs267607163 GRCh37 Chromosome 16, 90001763: 90001763
4 TUBB3 NM_006086.3(TUBB3): c.904G> A (p.Ala302Thr) single nucleotide variant Pathogenic rs267607163 GRCh38 Chromosome 16, 89935355: 89935355
5 TUBB3 NM_006086.3(TUBB3): c.1249G> C (p.Asp417His) single nucleotide variant Pathogenic rs267607164 GRCh37 Chromosome 16, 90002108: 90002108
6 TUBB3 NM_006086.3(TUBB3): c.1249G> C (p.Asp417His) single nucleotide variant Pathogenic rs267607164 GRCh38 Chromosome 16, 89935700: 89935700
7 TUBB3 NM_006086.3(TUBB3): c.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs267607164 GRCh37 Chromosome 16, 90002108: 90002108
8 TUBB3 NM_006086.3(TUBB3): c.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs267607164 GRCh38 Chromosome 16, 89935700: 89935700
9 TUBB3 NM_006086.3(TUBB3): c.1228G> A (p.Glu410Lys) single nucleotide variant Pathogenic rs267607165 GRCh37 Chromosome 16, 90002087: 90002087
10 TUBB3 NM_006086.3(TUBB3): c.1228G> A (p.Glu410Lys) single nucleotide variant Pathogenic rs267607165 GRCh38 Chromosome 16, 89935679: 89935679
11 TUBB3 NM_006086.3(TUBB3): c.292G> A (p.Gly98Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587784505 GRCh37 Chromosome 16, 90001151: 90001151
12 TUBB3 NM_006086.3(TUBB3): c.292G> A (p.Gly98Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587784505 GRCh38 Chromosome 16, 89934743: 89934743
13 TUBB3 NM_006086.3(TUBB3): c.185G> A (p.Arg62Gln) single nucleotide variant Pathogenic rs864321714 GRCh37 Chromosome 16, 89999894: 89999894
14 TUBB3 NM_006086.3(TUBB3): c.185G> A (p.Arg62Gln) single nucleotide variant Pathogenic rs864321714 GRCh38 Chromosome 16, 89933486: 89933486
15 TUBB3 NM_006086.3(TUBB3): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs864321715 GRCh37 Chromosome 16, 89999920: 89999920
16 TUBB3 NM_006086.3(TUBB3): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs864321715 GRCh38 Chromosome 16, 89933512: 89933512
17 TUBB3 NM_006086.3(TUBB3): c.785G> A (p.Arg262His) single nucleotide variant Pathogenic rs864321716 GRCh38 Chromosome 16, 89935236: 89935236
18 TUBB3 NM_006086.3(TUBB3): c.785G> A (p.Arg262His) single nucleotide variant Pathogenic rs864321716 GRCh37 Chromosome 16, 90001644: 90001644
19 TUBB3 NM_006086.3(TUBB3): c.1138C> T (p.Arg380Cys) single nucleotide variant Pathogenic rs864321717 GRCh37 Chromosome 16, 90001997: 90001997
20 TUBB3 NM_006086.3(TUBB3): c.1138C> T (p.Arg380Cys) single nucleotide variant Pathogenic rs864321717 GRCh38 Chromosome 16, 89935589: 89935589
21 TUBB3 c.1228G> A undetermined variant Pathogenic

Expression for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement.

Pathways for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

Sources for Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without...

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