DURS1
MCID: DNS003
MIFTS: 14

Duane Syndrome Type 1 (DURS1)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Duane Syndrome Type 1

MalaCards integrated aliases for Duane Syndrome Type 1:

Name: Duane Syndrome Type 1 54 30 6
Type 1 Duane Retraction Syndrome 74
Duane Retraction Syndrome 1 54
Duane's Syndrome, Type 1 74
Durs1 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


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Summaries for Duane Syndrome Type 1

NIH Rare Diseases : 54 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 and duane retraction syndrome 2. 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 11.6
2 duane retraction syndrome 2 11.1
3 duane retraction syndrome 3 with or without deafness 11.1
4 perrault syndrome 1 11.1
5 isolated duane retraction syndrome 10.1
6 duane retraction syndrome 1 10.0

Graphical network of the top 20 diseases related to Duane Syndrome Type 1:



Diseases related to Duane Syndrome Type 1

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 30

Anatomical Context for Duane Syndrome Type 1

MalaCards organs/tissues related to Duane Syndrome Type 1:

42
Eye

Publications for Duane Syndrome Type 1

Articles related to Duane Syndrome Type 1:

# Title Authors Year
1
Botulinum toxin injection in the patients with Duane syndrome type 1. ( 28367527 )
2017

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
9 CHN1 NM_001822.5(CHN1): c.1322T> C (p.Ile441Thr) single nucleotide variant not provided GRCh38 Chromosome 2, 174800174: 174800174
10 CHN1 NM_001822.5(CHN1): c.1322T> C (p.Ile441Thr) single nucleotide variant not provided GRCh37 Chromosome 2, 175664902: 175664902

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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