CFEOM2
MCID: FBR050
MIFTS: 23

Fibrosis of Extraocular Muscles, Congenital, 2 (CFEOM2) malady

Categories: Genetic diseases

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

Aliases & Descriptions for Fibrosis of Extraocular Muscles, Congenital, 2:

Name: Fibrosis of Extraocular Muscles, Congenital, 2 54 66 13 69
Cfeom2 24 66 52
Congenital Fibrosis of the Extraocular Muscles 2 24 29
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 66
Exotropic Strabismus Fixus 66
Cfeom 2 24
Feom2 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 602078
MedGen 40 C1865915

Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

UniProtKB/Swiss-Prot : 66 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 fibrosis of extraocular muscles, congenital, 1 and fibrosis of extraocular muscles, congenital, 3a, 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

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 by clinical synopsis from OMIM:

602078

Clinical features from OMIM:

602078

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 amblyopia 32 HP:0000646
3 exotropia 32 HP:0000577
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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search 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:

id Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 2 29
2 Congenital Fibrosis of the Extraocular Muscles 2 24

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

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

39
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 2

Variations for Fibrosis of Extraocular Muscles, Congenital, 2

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

66
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....