CFEOM2
MCID: FBR050
MIFTS: 27

Fibrosis of Extraocular Muscles, Congenital, 2 (CFEOM2)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 2

MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 2:

Name: Fibrosis of Extraocular Muscles, Congenital, 2 57 72 29 13 6 70
Cfeom2 57 72 54
Fibrosis of Extraocular Muscles, Congenital, Autosomal Recessive 57
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 72
Fibrosis, Extraocular Muscles, Congenital, Type 2 39
Exotropic Strabismus Fixus 72
Feom2 Locus 57
Feom2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fibrosis of extraocular muscles, congenital, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 602078
OMIM Phenotypic Series 57 PS135700
MedGen 41 C1865915
UMLS 70 C1865915

Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

UniProtKB/Swiss-Prot : 72 Fibrosis of extraocular muscles, congenital, 2: 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 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei.

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, 2, also known as cfeom2, is related to tukel syndrome and ocular motility disease, and has symptoms including ophthalmoplegia An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 2 is PHOX2A (Paired Like Homeobox 2A). Affiliated tissues include eye, and related phenotypes are visual impairment and amblyopia

More information from OMIM: 602078 PS135700

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 2

Diseases in the Fibrosis of Extraocular Muscles, Congenital, 3c family:

Fibrosis of Extraocular Muscles, Congenital, 1 Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 5

Diseases related to Fibrosis of Extraocular Muscles, Congenital, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 tukel syndrome 31.4 PHOX2A KIF21A
2 ocular motility disease 30.0 PHOX2A KIF21A
3 kearns-sayre syndrome 29.7 PHOX2A KIF21A
4 exotropia 29.5 PHOX2A KIF21A
5 ptosis 29.5 PHOX2A KIF21A
6 strabismus 29.1 PHOX2A KIF21A
7 fibrosis of extraocular muscles, congenital, 1 10.9
8 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.9
9 autosomal recessive disease 10.2
10 brown's tendon sheath syndrome 10.2
11 alternating exotropia 9.9
12 mechanical strabismus 9.9
13 myotonic cataract 9.8 PHOX2A KIF21A
14 marcus gunn phenomenon 9.8 PHOX2A KIF21A
15 hypotropia 9.8 PHOX2A KIF21A
16 paralytic squint 9.8 PHOX2A KIF21A
17 hypertropia 9.8 PHOX2A KIF21A
18 lagophthalmos 9.8 PHOX2A KIF21A
19 microphthalmia, isolated 5 9.8 PHOX2A KIF21A
20 partial third-nerve palsy 9.8 PHOX2A KIF21A
21 orbital disease 9.8 PHOX2A KIF21A
22 duane-radial ray syndrome 9.8 PHOX2A KIF21A
23 congenital ptosis 9.8 PHOX2A KIF21A
24 esotropia 9.7 PHOX2A KIF21A
25 duane retraction syndrome 9.7 PHOX2A KIF21A
26 cranial nerve disease 9.7 PHOX2A KIF21A
27 keratitis, hereditary 9.6 PHOX2A KIF21A

Graphical network of the top 20 diseases related to Fibrosis of Extraocular Muscles, Congenital, 2:



Diseases related to Fibrosis of Extraocular Muscles, Congenital, 2

Symptoms & Phenotypes for Fibrosis of Extraocular Muscles, Congenital, 2

Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 amblyopia 31 HP:0000646
3 exotropia 31 HP:0000577
4 bilateral ptosis 31 HP:0001488
5 congenital fibrosis of extraocular muscles 31 HP:0001491
6 restrictive external ophthalmoplegia 31 HP:0007936
7 hypertropia 31 HP:0025586
8 hypotropia 31 HP:0025584

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
amblyopia
bilateral ptosis
poor visual acuity
congenital fibrosis of extraocular muscles (cfeom)
eyes fixed in extreme abduction (exotropia strabismus fixus)
more

Clinical features from OMIM®:

602078 (Updated 05-Apr-2021)

UMLS symptoms related to Fibrosis of Extraocular Muscles, Congenital, 2:


ophthalmoplegia

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 2

Search Clinical Trials , NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 2

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 2

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 2:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 2 29 PHOX2A

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 2:

40
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 2

Articles related to Fibrosis of Extraocular Muscles, Congenital, 2:

(show all 20)
# Title Authors PMID Year
1
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. 6 57 61
11600883 2001
2
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. 57 61
9683611 1998
3
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). 54 61
14597037 2003
4
Familial unilateral Brown syndrome. 61 54
12324876 2002
5
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 54 61
11882252 2002
6
Congenital fibrosis of the extraocular muscles: review of recent literature. 61
31313749 2019
7
Management of a case of divergent strabismus fixus secondary to a congenital fibrosis of extraocular muscles type 2. 61
29044091 2017
8
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. 61
24940936 2016
9
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. 61
25347047 2014
10
[Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2]. 61
22311481 2012
11
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. 61
19896199 2010
12
Congenital fibrosis of the extraocular muscles. 61
18214786 2008
13
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. 61
16815872 2006
14
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 61
15223798 2004
15
Congenital Fibrosis of the Extraocular Muscles 61
20301522 2004
16
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. 61
15747768 2004
17
Elevation of one eye during tooth brushing. 61
12208268 2002
18
Applications of molecular genetics to the understanding of congenital ocular motility disorders. 61
11960793 2002
19
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. 61
10922204 2000
20
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. 61
10844060 2000

Variations for Fibrosis of Extraocular Muscles, Congenital, 2

ClinVar genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHOX2A NM_005169.4(PHOX2A):c.217+1G>A SNV Pathogenic 6838 rs1590729541 GRCh37: 11:71954831-71954831
GRCh38: 11:72243787-72243787
2 PHOX2A NM_005169.4(PHOX2A):c.406-1G>A SNV Pathogenic 6839 rs1178102382 GRCh37: 11:71951243-71951243
GRCh38: 11:72240199-72240199
3 PHOX2A NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) SNV Pathogenic 6840 rs104894269 GRCh37: 11:71954834-71954834
GRCh38: 11:72243790-72243790

UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 2:

72
# Symbol AA change Variation ID SNP ID
1 PHOX2A p.Ala72Val VAR_019014 rs104894269

Expression for Fibrosis of Extraocular Muscles, Congenital, 2

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 2.

Pathways for Fibrosis of Extraocular Muscles, Congenital, 2

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 2

Sources for Fibrosis of Extraocular Muscles, Congenital, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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