MCID: DNS003
MIFTS: 11

Duane Syndrome Type 1

Categories: Rare diseases

Aliases & Classifications for Duane Syndrome Type 1

MalaCards integrated aliases for Duane Syndrome Type 1:

Name: Duane Syndrome Type 1 53 29 6
Type 1 Duane Retraction Syndrome 73
Duane Retraction Syndrome 1 53
Duane's Syndrome, Type 1 73
Durs1 53

Classifications:



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Summaries for Duane Syndrome Type 1

NIH Rare Diseases : 53 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.

MalaCards based summary : Duane Syndrome Type 1, also known as type 1 duane retraction syndrome, is related to duane retraction syndrome 1. An important gene associated with Duane Syndrome Type 1 is MAFB (MAF BZIP Transcription Factor B). Affiliated tissues include eye.

Related Diseases for Duane Syndrome Type 1

Diseases in the Duane Syndrome Type 1 family:

Duane Syndrome Type 2 Duane Syndrome Type 3

Diseases related to Duane Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 1 12.2

Symptoms & Phenotypes for Duane Syndrome Type 1

Drugs & Therapeutics for Duane Syndrome Type 1

Search Clinical Trials , NIH Clinical Center for Duane Syndrome Type 1

Genetic Tests for Duane Syndrome Type 1

Genetic tests related to Duane Syndrome Type 1:

# Genetic test Affiliating Genes
1 Duane Syndrome Type 1 29

Anatomical Context for Duane Syndrome Type 1

MalaCards organs/tissues related to Duane Syndrome Type 1:

41
Eye

Publications for Duane Syndrome Type 1

Articles related to Duane Syndrome Type 1:

# Title Authors Year
1
Vertical rectus muscle transposition for correcting abduction deficiency in Duane's syndrome type 1 and sixth nerve palsy. ( 20349902 )
2010

Variations for Duane Syndrome Type 1

ClinVar genetic disease variations for Duane Syndrome Type 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic GRCh37 Chromosome 20, 39316129: 39317100
2 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic GRCh38 Chromosome 20, 40687489: 40688460
3 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh38 Chromosome 20, 40688048: 40688048
4 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh37 Chromosome 20, 39316688: 39316688
5 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh37 Chromosome 20, 39316847: 39316847
6 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh38 Chromosome 20, 40688207: 40688207
7 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh38 Chromosome 20, 40688411: 40688411
8 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh37 Chromosome 20, 39317051: 39317051

Expression for Duane Syndrome Type 1

Search GEO for disease gene expression data for Duane Syndrome Type 1.

Pathways for Duane Syndrome Type 1

GO Terms for Duane Syndrome Type 1

Sources for Duane Syndrome Type 1

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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