MCID: FBR050
MIFTS: 25

Fibrosis of Extraocular Muscles, Congenital, 2

Categories: Genetic 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 53 71 28 13 69
Cfeom2 53 71 51
Fibrosis of Extraocular Muscles, Congenital, Autosomal Recessive 53
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 71
Exotropic Strabismus Fixus 71
Feom2 Locus 53
Feom2 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

UniProtKB/Swiss-Prot : 71 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 strabismus, and has symptoms including visual impairment, amblyopia and exotropia. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 2 is PHOX2A (Paired Like Homeobox 2a). Affiliated tissues include eye.

Description from OMIM: 602078

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 12)
# Related Disease Score Top Affiliating Genes
1 tukel syndrome 29.9 KIF21A PHOX2A
2 strabismus 29.6 KIF21A PHOX2A
3 fibrosis of extraocular muscles, congenital, 1 11.3
4 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.9
5 exotropia 9.8 KIF21A PHOX2A
6 facial nerve disease 9.7 KIF21A PHOX2A
7 hypotropia 9.7 KIF21A PHOX2A
8 paralytic squint 9.7 KIF21A PHOX2A
9 ocular motility disease 9.7 KIF21A PHOX2A
10 cranial nerve disease 9.6 KIF21A PHOX2A
11 ptosis 9.6 KIF21A PHOX2A
12 kearns-sayre syndrome 9.5 KIF21A PHOX2A

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
congenital fibrosis of extraocular muscles (cfeom)
bilateral ptosis
eyes fixed in extreme abduction (exotropia strabismus fixus)
restrictive ophthalmoplegia
unilateral hypotropia
more

Clinical features from OMIM:

602078

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

31 (show all 6)
# 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

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 28 PHOX2A

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

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

38
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 2

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

# Title Authors Year
1
Hypertropic and exotropic strabismus fixus following neurotoxic snake bite. ( 27841205 )
2016
2
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). ( 14597037 )
2003
3
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. ( 9683611 )
1998

Variations for Fibrosis of Extraocular Muscles, Congenital, 2

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

71
# Symbol AA change Variation ID SNP ID
1 PHOX2A p.Ala72Val VAR_019014 rs104894269

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHOX2A ARIX, IVS1, G-A, +1 single nucleotide variant Pathogenic
2 PHOX2A ARIX, IVS2, G-A, -1 single nucleotide variant Pathogenic
3 PHOX2A NM_005169.3(PHOX2A): c.215C> T (p.Ala72Val) single nucleotide variant Pathogenic rs104894269 GRCh37 Chromosome 11, 71954834: 71954834

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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