MCID: FBR050
MIFTS: 23

Fibrosis of Extraocular Muscles, Congenital, 2 malady

Category: Genetic diseases (common)

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

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

Name: Fibrosis of Extraocular Muscles, Congenital, 2 51 69 12 67
Cfeom2 24 69 49
Congenital Fibrosis of the Extraocular Muscles 2 24 26
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 69
 
Exotropic Strabismus Fixus 69
Cfeom 2 24
Feom2 69

Characteristics:

HPO:

63
fibrosis of extraocular muscles, congenital, 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 602078
MedGen36 C1865915

Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

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UniProtKB/Swiss-Prot:69 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, exotropia and amblyopia. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 2 is PHOX2A (Paired Like Homeobox 2a). Affiliated tissues include eye.

Description from OMIM:51 602078

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 2

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



Diseases related to fibrosis of extraocular muscles, congenital, 2

Symptoms for Fibrosis of Extraocular Muscles, Congenital, 2

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Symptoms by clinical synopsis from OMIM:

602078

Clinical features from OMIM:

602078

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

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 visual impairment63 HP:0000505
2 exotropia63 HP:0000577
3 amblyopia63 HP:0000646
4 bilateral ptosis63 HP:0001488
5 congenital fibrosis of extraocular muscles63 HP:0001491
6 restrictive external ophthalmoplegia63 HP:0007936

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


ophthalmoplegia

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

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Interventional clinical trials:

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

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 2

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

id Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 226
2 Congenital Fibrosis of the Extraocular Muscles 224

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

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

35
Eye

Animal Models for Fibrosis of Extraocular Muscles, Congenital, 2 or affiliated genes

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Publications for Fibrosis of Extraocular Muscles, Congenital, 2

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Variations for Fibrosis of Extraocular Muscles, Congenital, 2

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

69
id Symbol AA change Variation ID SNP ID
1PHOX2Ap.Ala72ValVAR_019014rs104894269

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PHOX2AARIX, IVS1, G-A, +1SNVPathogenicChr na, -1: -1
2PHOX2AARIX, IVS2, G-A, -1SNVPathogenicChr na, -1: -1
3PHOX2ANM_005169.3(PHOX2A): c.215C> T (p.Ala72Val)SNVPathogenicrs104894269GRCh37Chr 11, 71954834: 71954834

Expression for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 2

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

Pathways for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 2

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GO Terms for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 2

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Sources for Fibrosis of Extraocular Muscles, Congenital, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet