MCID: FBR050
MIFTS: 24

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 57 75 29 13 6 73
Cfeom2 57 75 55
Fibrosis of Extraocular Muscles, Congenital, Autosomal Recessive 57
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 75
Fibrosis, Extraocular Muscles, Congenital, Type 2 40
Exotropic Strabismus Fixus 75
Feom2 Locus 57
Feom2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fibrosis of extraocular muscles, congenital, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

UniProtKB/Swiss-Prot : 75 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 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 exotropia

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 29.7 KIF21A PHOX2A
2 strabismus 29.0 KIF21A PHOX2A
3 fibrosis of extraocular muscles, congenital, 1 10.9
4 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.9
5 exotropia 9.6 KIF21A PHOX2A
6 facial nerve disease 9.6 KIF21A PHOX2A
7 hypotropia 9.6 KIF21A PHOX2A
8 paralytic squint 9.5 KIF21A PHOX2A
9 ocular motility disease 9.5 KIF21A PHOX2A
10 cranial nerve disease 9.4 KIF21A PHOX2A
11 kearns-sayre syndrome 9.3 KIF21A PHOX2A
12 ptosis 9.2 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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 exotropia 32 HP:0000577
3 amblyopia 32 HP:0000646
4 bilateral ptosis 32 HP:0001488
5 congenital fibrosis of extraocular muscles 32 HP:0001491
6 restrictive external ophthalmoplegia 32 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 29 PHOX2A

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

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

41
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
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:

75
# 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
4 PHOX2A NM_005169.3(PHOX2A): c.215C> T (p.Ala72Val) single nucleotide variant Pathogenic rs104894269 GRCh38 Chromosome 11, 72243790: 72243790

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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