MCID: CNG142
MIFTS: 13

Congenital Fibrosis of the Extraocular Muscles 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
Download this MalaCard

Summaries for Congenital Fibrosis of the Extraocular Muscles 2

About this section


Fully expand this MalaCard
MalaCards based summary: Congenital Fibrosis of the Extraocular Muscles 2, is also known as fibrosis of extraocular muscles, congenital, 2 and has symptoms including An important gene associated with Congenital Fibrosis of the Extraocular Muscles 2 is PHOX2A (paired-like homeobox 2a).

Description from OMIM:46 602078

Aliases & Classifications for Congenital Fibrosis of the Extraocular Muscles 2

About this section

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

Name: Congenital Fibrosis of the Extraocular Muscles 2 20 22
 
Fibrosis of Extraocular Muscles, Congenital, 2 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Related Diseases for Congenital Fibrosis of the Extraocular Muscles 2

About this section

Symptoms for Congenital Fibrosis of the Extraocular Muscles 2

About this section

Symptoms by clinical synopsis from OMIM:

602078

Clinical features from OMIM:

602078

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

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 exotropia HP:0000577
4 amblyopia HP:0000646
5 bilateral ptosis HP:0001488
6 congenital fibrosis of extraocular muscles HP:0001491
7 restrictive external ophthalmoplegia HP:0007936
8 restrictive external ophthalmoplegia HP:0007936

Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles 2

About this section

Drug clinical trials:

Search ClinicalTrials for Congenital Fibrosis of the Extraocular Muscles 2

Search NIH Clinical Center for Congenital Fibrosis of the Extraocular Muscles 2

Genetic Tests for Congenital Fibrosis of the Extraocular Muscles 2

About this section

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

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 220
2 Fibrosis of Extraocular Muscles, Congenital, 222

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles 2

About this section

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

About this section

Publications for Congenital Fibrosis of the Extraocular Muscles 2

About this section

Variations for Congenital Fibrosis of the Extraocular Muscles 2

About this section

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

64
id Symbol AA change Variation ID SNP ID
1PHOX2Ap.Ala72ValVAR_019014

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

6
id Gene Name 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 Congenital Fibrosis of the Extraocular Muscles 2

About this section
Expression patterns in normal tissues for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

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

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

About this section

Compounds for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section

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

About this section

Products for genes affiliated with Congenital Fibrosis of the Extraocular Muscles 2

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Fibrosis of the Extraocular Muscles 2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet