CFEOM3C
MCID: FBR081
MIFTS: 16

Fibrosis of Extraocular Muscles, Congenital, 3c (CFEOM3C)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 3c

MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 3c:

Name: Fibrosis of Extraocular Muscles, Congenital, 3c 56 29 13 71
Feom4 Locus 56
Cfeom3c 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation


HPO:

31
fibrosis of extraocular muscles, congenital, 3c:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 609384
OMIM Phenotypic Series 56 PS135700
MedGen 41 C2750404
UMLS 71 C2750404

Summaries for Fibrosis of Extraocular Muscles, Congenital, 3c

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, 3c, also known as feom4 locus, is related to fibrosis of extraocular muscles, congenital, 1. Affiliated tissues include eye, and related phenotypes are pectus excavatum and intellectual disability

More information from OMIM: 609384 PS135700

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 3c

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, 3c 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, 3c

Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 3c:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 HP:0000767
2 intellectual disability 31 HP:0001249
3 kyphosis 31 HP:0002808
4 highly arched eyebrow 31 HP:0002553
5 thin upper lip vermilion 31 HP:0000219
6 underdeveloped supraorbital ridges 31 HP:0009891
7 congenital bilateral ptosis 31 HP:0007911
8 congenital fibrosis of extraocular muscles 31 HP:0001491
9 restrictive partial external ophthalmoplegia 31 HP:0007867

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis, congenital bilateral
restrictive partial ophthalmoplegia
inability to raise eyes above horizontal midline

Laboratory Abnormalities:
balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

Clinical features from OMIM:

609384

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 3c

Search Clinical Trials , NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 3c

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 3c

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 3c:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 3c 29

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 3c

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 3c:

40
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 3c

Articles related to Fibrosis of Extraocular Muscles, Congenital, 3c:

# Title Authors PMID Year
1
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. 56
15744040 2005
2
Congenital Fibrosis of the Extraocular Muscles 61
20301522 2004

Variations for Fibrosis of Extraocular Muscles, Congenital, 3c

Expression for Fibrosis of Extraocular Muscles, Congenital, 3c

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 3c.

Pathways for Fibrosis of Extraocular Muscles, Congenital, 3c

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 3c

Sources for Fibrosis of Extraocular Muscles, Congenital, 3c

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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