MCID: DNR006
MIFTS: 14

Duane Retraction Syndrome 3 with or Without Deafness

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Duane Retraction Syndrome 3 with or Without Deafness

MalaCards integrated aliases for Duane Retraction Syndrome 3 with or Without Deafness:

Name: Duane Retraction Syndrome 3 with or Without Deafness 57 75 6
Durs3 57 75
Duane Retraction Syndrome 3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability within families, with unilateral or bilateral involvement
phenotypic variability within patients, with some exhibiting type 1 durs in 1 eye and type 3 durs in the other eye
sensorineural hearing loss in 1 family with dominant-negative mutation


HPO:

32
duane retraction syndrome 3 with or without deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617041
MeSH 44 D004370
SNOMED-CT via HPO 69 263681008

Summaries for Duane Retraction Syndrome 3 with or Without Deafness

OMIM : 57 Duane retraction syndrome is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by Park et al., 2016). For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800). (617041)

MalaCards based summary : Duane Retraction Syndrome 3 with or Without Deafness, also known as durs3, is related to duane syndrome type 3. An important gene associated with Duane Retraction Syndrome 3 with or Without Deafness is MAFB (MAF BZIP Transcription Factor B). Affiliated tissues include eye, and related phenotypes are impaired ocular adduction and impaired ocular abduction

UniProtKB/Swiss-Prot : 75 Duane retraction syndrome 3 with or without deafness: A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss.

Related Diseases for Duane Retraction Syndrome 3 with or Without Deafness

Diseases related to Duane Retraction Syndrome 3 with or Without Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 duane syndrome type 3 11.2

Symptoms & Phenotypes for Duane Retraction Syndrome 3 with or Without Deafness

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing loss, congenital (in 1 family)

Head And Neck Eyes:
impaired ocular abduction
impaired ocular adduction
globe retraction and deviation on adduction palpebral fissure narrowing on adduction


Clinical features from OMIM:

617041

Human phenotypes related to Duane Retraction Syndrome 3 with or Without Deafness:

32
# Description HPO Frequency HPO Source Accession
1 impaired ocular adduction 32 HP:0000542
2 impaired ocular abduction 32 HP:0000634

Drugs & Therapeutics for Duane Retraction Syndrome 3 with or Without Deafness

Search Clinical Trials , NIH Clinical Center for Duane Retraction Syndrome 3 with or Without Deafness

Genetic Tests for Duane Retraction Syndrome 3 with or Without Deafness

Anatomical Context for Duane Retraction Syndrome 3 with or Without Deafness

MalaCards organs/tissues related to Duane Retraction Syndrome 3 with or Without Deafness:

41
Eye

Publications for Duane Retraction Syndrome 3 with or Without Deafness

Variations for Duane Retraction Syndrome 3 with or Without Deafness

ClinVar genetic disease variations for Duane Retraction Syndrome 3 with or Without Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh38 Chromosome 20, 40688048: 40688048
2 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh37 Chromosome 20, 39316688: 39316688

Expression for Duane Retraction Syndrome 3 with or Without Deafness

Search GEO for disease gene expression data for Duane Retraction Syndrome 3 with or Without Deafness.

Pathways for Duane Retraction Syndrome 3 with or Without Deafness

GO Terms for Duane Retraction Syndrome 3 with or Without Deafness

Sources for Duane Retraction Syndrome 3 with or Without Deafness

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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