CFEOM5
MCID: FBR078
MIFTS: 17

Fibrosis of Extraocular Muscles, Congenital, 5 (CFEOM5)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 5

MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 5:

Name: Fibrosis of Extraocular Muscles, Congenital, 5 58 76 30 6 74
Cfeom5 58 76
Fibrosis of Extraocular Muscles, Congenital, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
two unrelated families have been reported (last curated february 2015)


HPO:

33
fibrosis of extraocular muscles, congenital, 5:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616219
SNOMED-CT via HPO 70 11934000 258211005
UMLS 74 C4015552

Summaries for Fibrosis of Extraocular Muscles, Congenital, 5

UniProtKB/Swiss-Prot : 76 Fibrosis of extraocular muscles, congenital, 5: An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head.

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, 5, also known as cfeom5, is related to fibrosis of extraocular muscles, congenital, 1. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 5 is COL25A1 (Collagen Type XXV Alpha 1 Chain). Affiliated tissues include eye, and related phenotype is ptosis.

Description from OMIM: 616219

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 5

Diseases in the Fibrosis of Extraocular Muscles, Congenital, 3c family:

Fibrosis of Extraocular Muscles, Congenital, 1 Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 5

Diseases related to Fibrosis of Extraocular Muscles, Congenital, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 11.2

Symptoms & Phenotypes for Fibrosis of Extraocular Muscles, Congenital, 5

Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 5:

33
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
abnormal ocular motility
duane retraction syndrome
dysinnervation of various cranial nerves to ocular muscles

Clinical features from OMIM:

616219

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 5

Search Clinical Trials , NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 5

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 5

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 5:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 5 30 COL25A1

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 5

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 5:

42
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 5

Articles related to Fibrosis of Extraocular Muscles, Congenital, 5:

# Title Authors Year
1
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. ( 25500261 )
2015

Variations for Fibrosis of Extraocular Muscles, Congenital, 5

UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 5:

76
# Symbol AA change Variation ID SNP ID
1 COL25A1 p.Gly382Arg VAR_073325 rs780209390

ClinVar genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL25A1 COL25A1, 12.4-KB DEL deletion Pathogenic
2 COL25A1 NM_198721.3(COL25A1): c.1144G> A (p.Gly382Arg) single nucleotide variant Pathogenic rs780209390 GRCh37 Chromosome 4, 109784483: 109784483
3 COL25A1 NM_198721.3(COL25A1): c.1144G> A (p.Gly382Arg) single nucleotide variant Pathogenic rs780209390 GRCh38 Chromosome 4, 108863327: 108863327
4 COL25A1 NM_198721.3(COL25A1): c.1489G> T (p.Gly497Ter) single nucleotide variant Pathogenic rs886037741 GRCh37 Chromosome 4, 109767321: 109767321
5 COL25A1 NM_198721.3(COL25A1): c.1489G> T (p.Gly497Ter) single nucleotide variant Pathogenic rs886037741 GRCh38 Chromosome 4, 108846165: 108846165

Expression for Fibrosis of Extraocular Muscles, Congenital, 5

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 5.

Pathways for Fibrosis of Extraocular Muscles, Congenital, 5

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 5

Sources for Fibrosis of Extraocular Muscles, Congenital, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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