CFEOM5
MCID: FBR078
MIFTS: 18

Fibrosis of Extraocular Muscles, Congenital, 5 (CFEOM5)

Categories: 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 56 73 29 6 71
Cfeom5 56 73
Fibrosis of Extraocular Muscles, Congenital, Type 5 39

Characteristics:

OMIM:

56
Miscellaneous:
congenital onset
two unrelated families have been reported (last curated february 2015)

Inheritance:
autosomal recessive


HPO:

31
fibrosis of extraocular muscles, congenital, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 56 616219
OMIM Phenotypic Series 56 PS135700
SNOMED-CT via HPO 68 11934000 258211005
UMLS 71 C4015552

Summaries for Fibrosis of Extraocular Muscles, Congenital, 5

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 616219 PS135700

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 11.3

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

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

31
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508

Symptoms via clinical synopsis from OMIM:

56
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 29 COL25A1

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 5

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

40
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 5

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

# Title Authors PMID Year
1
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 56 6
25500261 2015

Variations for Fibrosis of Extraocular Muscles, Congenital, 5

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL25A1 NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)SNV Pathogenic 180690 rs780209390 4:109784483-109784483 4:108863327-108863327
2 COL25A1 NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)SNV Pathogenic 180691 rs886037741 4:109767321-109767321 4:108846165-108846165
3 COL25A1 COL25A1, 12.4-KB DELdeletion Pathogenic 180692

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

73
# Symbol AA change Variation ID SNP ID
1 COL25A1 p.Gly382Arg VAR_073325 rs780209390

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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