DURS3
MCID: DNR006
MIFTS: 20

Duane Retraction Syndrome 3 with or Without Deafness (DURS3)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 72 29 6
Duane Retraction Syndrome 3 57 6
Durs3 57 72
Duane Retraction Syndrome with Congenital Hearing Loss 58
Duane Retraction Syndrome with Congenital Deafness 58
Durs with Hearing Loss 58
Drs with Hearing Loss 58
Durs with Deafness 58
Drs with Deafness 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
duane retraction syndrome 3 with or without deafness:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 617041
OMIM Phenotypic Series 57 PS126800
MeSH 44 D004370
Orphanet 58 ORPHA529574
SNOMED-CT via HPO 68 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) (Updated 05-Apr-2021)

MalaCards based summary : Duane Retraction Syndrome 3 with or Without Deafness, is also known as duane retraction syndrome 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 abduction and impaired ocular adduction

UniProtKB/Swiss-Prot : 72 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

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

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

31
# Description HPO Frequency HPO Source Accession
1 impaired ocular abduction 31 HP:0000634
2 impaired ocular adduction 31 HP:0000542
3 palpebral fissure narrowing on adduction 31 HP:0000661

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
impaired ocular abduction
impaired ocular adduction
globe retraction and deviation on adduction palpebral fissure narrowing on adduction

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

Clinical features from OMIM®:

617041 (Updated 05-Apr-2021)

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

Genetic tests related to Duane Retraction Syndrome 3 with or Without Deafness:

# Genetic test Affiliating Genes
1 Duane Retraction Syndrome 3 with or Without Deafness 29 MAFB

Anatomical Context for Duane Retraction Syndrome 3 with or Without Deafness

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

40
Eye

Publications for Duane Retraction Syndrome 3 with or Without Deafness

Articles related to Duane Retraction Syndrome 3 with or Without Deafness:

# Title Authors PMID Year
1
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 57 6
27181683 2016
2
Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder. 61
22950449 2013

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 Name Type Significance ClinVarId dbSNP ID Position
1 MAFB NM_005461.5(MAFB):c.644del (p.Gln215fs) Deletion Pathogenic 224627 rs879255277 GRCh37: 20:39316847-39316847
GRCh38: 20:40688207-40688207
2 MAFB NM_005461.5(MAFB):c.803del (p.Asn268fs) Deletion Pathogenic 224628 rs879255275 GRCh37: 20:39316688-39316688
GRCh38: 20:40688048-40688048
3 MAFB NM_005461.5(MAFB):c.440del (p.Gly147fs) Deletion Pathogenic 224626 rs879255276 GRCh37: 20:39317051-39317051
GRCh38: 20:40688411-40688411
4 MAFB NM_005461.4(MAFB):c.(?_391)_*(390_?)del Deletion Pathogenic 224629 GRCh37: 20:39316129-39317100
GRCh38: 20:40687489-40688460

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 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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