MCID: FBR050
MIFTS: 22

Fibrosis of Extraocular Muscles, Congenital, 2 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

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 50 68 12 66
Cfeom2 23 68 48
Congenital Fibrosis of the Extraocular Muscles 2 23 25
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 68
 
Exotropic Strabismus Fixus 68
Cfeom 2 23
Feom2 68

Characteristics:

HPO:

62
fibrosis of extraocular muscles, congenital, 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 602078
MedGen35 C1865915

Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

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UniProtKB/Swiss-Prot:68 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 congenital fibrosis of the extraocular muscles and strabismus, and has symptoms including ophthalmoplegia, ophthalmoplegia and visual impairment. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 2 is PHOX2A (Paired Like Homeobox 2a). Affiliated tissues include eye.

Description from OMIM:50 602078

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 2

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Symptoms for Fibrosis of Extraocular Muscles, Congenital, 2

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Symptoms by clinical synopsis from OMIM:

602078

Clinical features from OMIM:

602078

HPO human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 2:

(show all 6)
id Description Frequency HPO Source Accession
1 visual impairment HP:0000505
2 exotropia HP:0000577
3 amblyopia HP:0000646
4 bilateral ptosis HP:0001488
5 congenital fibrosis of extraocular muscles HP:0001491
6 restrictive external ophthalmoplegia 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, 225
2 Congenital Fibrosis of the Extraocular Muscles 223

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

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

34
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:

68
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, +1single nucleotide variantPathogenic
2PHOX2AARIX, IVS2, G-A, -1single nucleotide variantPathogenic
3PHOX2ANM_005169.3(PHOX2A): c.215C> T (p.Ala72Val)single nucleotide variantPathogenicrs104894269GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet