MCID: FBR050
MIFTS: 23

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 49 11 67 65
Cfeom2 22 47 67
Congenital Fibrosis of the Extraocular Muscles 2 22 24
Congenital Fibrosis of Extraocular Muscles Autosomal Recessive 67
 
Exotropic Strabismus Fixus 67
Cfeom 2 22
Feom2 67

Characteristics:

HPO:

61
fibrosis of extraocular muscles, congenital, 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 602078
MedGen34 C1865915
UMLS65 C1865915

Summaries for Fibrosis of Extraocular Muscles, Congenital, 2

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UniProtKB/Swiss-Prot:67 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 restrictive external ophthalmoplegia, congenital fibrosis of extraocular muscles and bilateral ptosis. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 2 is PHOX2A (Paired Like Homeobox 2a). Affiliated tissues include eye.

Description from OMIM:49 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

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

(show all 6)
id Description Frequency HPO Source Accession
1 restrictive external ophthalmoplegia HP:0007936
2 congenital fibrosis of extraocular muscles HP:0001491
3 bilateral ptosis HP:0001488
4 amblyopia HP:0000646
5 exotropia HP:0000577
6 visual impairment HP:0000505

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 Congenital Fibrosis of the Extraocular Muscles 222

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 2

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1PHOX2Ap.Ala72ValVAR_019014

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet