MCID: FBR078
MIFTS: 15

Fibrosis of Extraocular Muscles, Congenital, 5

Categories: Genetic 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 57 75 29 6 73
Cfeom5 57 75
Fibrosis of Extraocular Muscles, Congenital, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
fibrosis of extraocular muscles, congenital, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 616219
SNOMED-CT via HPO 69 258211005 11934000
UMLS 73 C4015552

Summaries for Fibrosis of Extraocular Muscles, Congenital, 5

UniProtKB/Swiss-Prot : 75 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 11.0

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
abnormal ocular motility
duane retraction syndrome
ptosis
dysinnervation of various cranial nerves to ocular muscles


Clinical features from OMIM:

616219

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

32
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508

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 29 COL25A1

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 5

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

41
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 5

Variations for Fibrosis of Extraocular Muscles, Congenital, 5

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

75
# 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 NM_198721.3(COL25A1): c.1144G> A (p.Gly382Arg) single nucleotide variant Pathogenic rs780209390 GRCh37 Chromosome 4, 109784483: 109784483
2 COL25A1 NM_198721.3(COL25A1): c.1144G> A (p.Gly382Arg) single nucleotide variant Pathogenic rs780209390 GRCh38 Chromosome 4, 108863327: 108863327
3 COL25A1 NM_198721.3(COL25A1): c.1489G> T (p.Gly497Ter) single nucleotide variant Pathogenic rs886037741 GRCh37 Chromosome 4, 109767321: 109767321
4 COL25A1 NM_198721.3(COL25A1): c.1489G> T (p.Gly497Ter) single nucleotide variant Pathogenic rs886037741 GRCh38 Chromosome 4, 108846165: 108846165
5 COL25A1 COL25A1, 12.4-KB DEL deletion Pathogenic

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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