OCABSN
MCID: OCL082
MIFTS: 13

Oculomotor-Abducens Synkinesis (OCABSN)

Categories: Genetic diseases

Aliases & Classifications for Oculomotor-Abducens Synkinesis

MalaCards integrated aliases for Oculomotor-Abducens Synkinesis:

Name: Oculomotor-Abducens Synkinesis 57
Ocabsn 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
one consanguineous arab family has been reported (last curated march 2021)


Classifications:



External Ids:

OMIM® 57 619215

Summaries for Oculomotor-Abducens Synkinesis

OMIM® : 57 Oculomotor-abducens synkinesis (OCABSN) is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). The superior branch of CN3 innervates the levator palpebrae superioris muscle, which raises the eyelid, and CN6 innervates the lateral rectus muscle, which controls lateral eye movement. Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of these muscles and suggest synkinesis of the oculomotor and abducens nerves. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD), and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Khan et al., 2004 and Whitman et al., 2019). See also oculomotor-levator synkinesis (OCLEVS; 151610), a similar disorder. (619215) (Updated 05-Mar-2021)

MalaCards based summary : Oculomotor-Abducens Synkinesis, also known as ocabsn, is related to oculomotor-levator synkinesis and ptosis. An important gene associated with Oculomotor-Abducens Synkinesis is ACKR3 (Atypical Chemokine Receptor 3). Affiliated tissues include eye.

Related Diseases for Oculomotor-Abducens Synkinesis

Diseases related to Oculomotor-Abducens Synkinesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 oculomotor-levator synkinesis 11.3
2 ptosis 10.2

Symptoms & Phenotypes for Oculomotor-Abducens Synkinesis

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
abnormal extraocular eye movements
duane syndrome
oculomotor synkinesis
elevation of the eyelid on ipsilateral abduction
more

Clinical features from OMIM®:

619215 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oculomotor-Abducens Synkinesis

Search Clinical Trials , NIH Clinical Center for Oculomotor-Abducens Synkinesis

Genetic Tests for Oculomotor-Abducens Synkinesis

Anatomical Context for Oculomotor-Abducens Synkinesis

MalaCards organs/tissues related to Oculomotor-Abducens Synkinesis:

40
Eye

Publications for Oculomotor-Abducens Synkinesis

Articles related to Oculomotor-Abducens Synkinesis:

# Title Authors PMID Year
1
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. 57
31211835 2019
2
Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. 57
30372748 2018
3
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 57
27181683 2016
4
Familial ptotic lid elevation during ipsilateral abduction. 57
15616506 2004
5
Correction of congenital blepharoptosis in oculomotor-abducens synkinesis. 61
16418674 2006
6
Acquired oculomotor-abducens synkinesis. 61
2361197 1990

Variations for Oculomotor-Abducens Synkinesis

Expression for Oculomotor-Abducens Synkinesis

Search GEO for disease gene expression data for Oculomotor-Abducens Synkinesis.

Pathways for Oculomotor-Abducens Synkinesis

GO Terms for Oculomotor-Abducens Synkinesis

Sources for Oculomotor-Abducens Synkinesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....