CFEOM3A
MCID: FBR094
MIFTS: 28

Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement (CFEOM3A)

Categories: Genetic diseases, Neuronal 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 56 29 6 71
Fibrosis of Extraocular Muscles, Congenital, 3a 56 73 13
Cfeom3a 56 73
Congenital Fibrosis of Extraocular Muscles 3a with or Without Extraocular Involvement 73
Fibrosis of Extraocular Muscles, Congenital, Type 3a 39
Tubb3 Syndrome 73
Feom3 Locus 56
Feom3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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 global developmental delay and specific learning disability

OMIM : 56 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 11.3
2 cortical dysplasia, complex, with other brain malformations 1 11.3
3 moebius syndrome 10.2
4 tubulin, beta 10.2
5 kearns-sayre syndrome 10.2
6 strabismus 10.2
7 tukel syndrome 10.2
8 mechanical strabismus 10.2

Graphical network of the top 20 diseases related to Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement:



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

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 specific learning disability 31 occasional (7.5%) HP:0001328
3 facial palsy 31 occasional (7.5%) HP:0010628
4 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
5 wrist flexion contracture 31 occasional (7.5%) HP:0001239
6 camptodactyly of finger 31 occasional (7.5%) HP:0100490
7 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
8 joint contracture of the hand 31 occasional (7.5%) HP:0009473
9 ptosis 31 HP:0000508
10 amblyopia 31 HP:0000646
11 exotropia 31 HP:0000577
12 congenital fibrosis of extraocular muscles 31 HP:0001491
13 compensatory chin elevation 31 HP:0001477
14 levator palpebrae superioris atrophy 31 HP:0012241
15 superior rectus atrophy 31 HP:0012242
16 nonprogressive restrictive external ophthalmoplegia 31 HP:0007831

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Eye

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

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

(show all 12)
# Title Authors PMID Year
1
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 56 6
20074521 2010
2
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 56 6
15223798 2004
3
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. 6 56
12073023 2002
4
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. 6 56
10393037 1999
5
Congenital fibrosis of the vertically acting extraocular muscles. A new group of dominantly inherited ocular fibrosis with radiologic findings. 6 56
7724178 1995
6
[Congenital fibrosis of thr ocular muscles: a diagnosis for several clinical pictures]. 6 56
2133536 1990
7
Congenital Fibrosis of the Extraocular Muscles 6 61
20301522 2004
8
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 6
20829227 2010
9
Congenital fibrosis of the extraocular muscles. 56
18214786 2008
10
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 56
14595441 2003
11
Bilateral vertical retraction syndrome. A family study. 56
6050846 1967
12
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. 61
28299356 2017

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

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

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB3 NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)SNV Pathogenic 6963 rs267607162 16:90001643-90001643 16:89935235-89935235
2 TUBB3 NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)SNV Pathogenic 6964 rs267607163 16:90001763-90001763 16:89935355-89935355
3 TUBB3 NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)SNV Pathogenic 6965 rs267607164 16:90002108-90002108 16:89935700-89935700
4 TUBB3 NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)SNV Pathogenic 6966 rs267607164 16:90002108-90002108 16:89935700-89935700
5 TUBB3 NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)SNV Pathogenic 6967 rs267607165 16:90002087-90002087 16:89935679-89935679
6 TUBB3 NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)SNV Pathogenic 219254 rs864321714 16:89999894-89999894 16:89933486-89933486
7 TUBB3 NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)SNV Pathogenic 219255 rs864321715 16:89999920-89999920 16:89933512-89933512
8 TUBB3 NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)SNV Pathogenic 219257 rs864321717 16:90001997-90001997 16:89935589-89935589
9 TUBB3 c.1228G>Aundetermined variant Pathogenic 224784
10 TUBB3 NM_006086.4(TUBB3):c.785G>A (p.Arg262His)SNV Pathogenic/Likely pathogenic 219256 rs864321716 16:90001644-90001644 16:89935236-89935236
11 TUBB3 NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)SNV Conflicting interpretations of pathogenicity 160191 rs587784505 16:90001151-90001151 16:89934743-89934743
12 TUBB3 NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)SNV Uncertain significance 160195 rs587784506 16:90001587-90001587 16:89935179-89935179
13 TUBB3 NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg)SNV Uncertain significance 617613 rs1567765029 16:90001490-90001490 16:89935082-89935082

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

73
# 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

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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