MCID: CNG142
MIFTS: 15

Congenital Fibrosis of the Extraocular Muscles 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Congenital Fibrosis of the Extraocular Muscles 2

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MalaCards based summary: Congenital Fibrosis of the Extraocular Muscles 2, is also known as fibrosis of extraocular muscles, congenital, 2, and has symptoms including autosomal recessive inheritance, visual impairment and exotropia. 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

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

Name: Congenital Fibrosis of the Extraocular Muscles 2 21 23
 
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

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Symptoms for Congenital Fibrosis of the Extraocular Muscles 2

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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 7)
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

Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles 2

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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

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

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 221
2 Fibrosis of Extraocular Muscles, Congenital, 223

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles 2

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

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Publications for Congenital Fibrosis of the Extraocular Muscles 2

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Variations for Congenital Fibrosis of the Extraocular Muscles 2

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

63
id Symbol AA change Variation ID SNP ID
1PHOX2Ap.Ala72ValVAR_019014

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

7
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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Fibrosis of the Extraocular Muscles 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet