DURS2
MCID: DNS004
MIFTS: 18

Duane Syndrome Type 2 (DURS2)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Duane Syndrome Type 2

MalaCards integrated aliases for Duane Syndrome Type 2:

Name: Duane Syndrome Type 2 53 29 6
Duane Retraction Syndrome, Type 2 72
Duane Retraction Syndrome 2 53
Durs2 53

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


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UMLS 72 C0751083

Summaries for Duane Syndrome Type 2

NIH Rare Diseases : 53 Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.

MalaCards based summary : Duane Syndrome Type 2, also known as duane retraction syndrome, type 2, is related to duane retraction syndrome 2 and duane retraction syndrome. An important gene associated with Duane Syndrome Type 2 is CHN1 (Chimerin 1). Affiliated tissues include eye.

Related Diseases for Duane Syndrome Type 2

Diseases in the Duane Syndrome Type 2 family:

Duane Syndrome Type 1 Duane Syndrome Type 3

Diseases related to Duane Syndrome Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 33.4 MAFB CHN1
2 duane retraction syndrome 29.5 MAFB CHN1
3 duane retraction syndrome 1 10.3
4 strabismus 10.1
5 branchiootic syndrome 1 10.1
6 duane retraction syndrome 3 with or without deafness 10.1
7 mechanical strabismus 10.1
8 isolated duane retraction syndrome 10.1
9 amblyopia 9.2 MAFB CHN1

Graphical network of the top 20 diseases related to Duane Syndrome Type 2:



Diseases related to Duane Syndrome Type 2

Symptoms & Phenotypes for Duane Syndrome Type 2

Drugs & Therapeutics for Duane Syndrome Type 2

Search Clinical Trials , NIH Clinical Center for Duane Syndrome Type 2

Genetic Tests for Duane Syndrome Type 2

Genetic tests related to Duane Syndrome Type 2:

# Genetic test Affiliating Genes
1 Duane Syndrome Type 2 29 CHN1

Anatomical Context for Duane Syndrome Type 2

MalaCards organs/tissues related to Duane Syndrome Type 2:

41
Eye

Publications for Duane Syndrome Type 2

Articles related to Duane Syndrome Type 2:

# Title Authors PMID Year
1
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. 38
19541263 2009
2
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 38
18653847 2008
3
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. 38
18055799 2007
4
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. 38
17197532 2007
5
Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. 38
17197533 2007
6
Familial unilateral Brown syndrome. 38
12324876 2002
7
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. 38
11600883 2001

Variations for Duane Syndrome Type 2

ClinVar genetic disease variations for Duane Syndrome Type 2:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHN1 NM_001822.5(CHN1): c.661T> C (p.Tyr221His) single nucleotide variant Pathogenic rs1553475005 2:175689213-175689213 2:174824485-174824485
2 CHN1 NM_001822.5(CHN1): c.60A> T (p.Leu20Phe) single nucleotide variant Pathogenic rs121912792 2:175809670-175809670 2:174944942-174944942
3 CHN1 NM_001822.5(CHN1): c.378T> G (p.Ile126Met) single nucleotide variant Pathogenic rs121912793 2:175742739-175742739 2:174878011-174878011
4 CHN1 NM_001822.5(CHN1): c.427T> C (p.Tyr143His) single nucleotide variant Pathogenic rs121912794 2:175742690-175742690 2:174877962-174877962
5 CHN1 NM_001822.5(CHN1): c.668C> T (p.Ala223Val) single nucleotide variant Pathogenic rs121912795 2:175689206-175689206 2:174824478-174824478
6 CHN1 NM_001822.5(CHN1): c.682G> A (p.Gly228Ser) single nucleotide variant Pathogenic rs121912796 2:175689192-175689192 2:174824464-174824464
7 CHN1 NM_001822.5(CHN1): c.755C> A (p.Pro252Gln) single nucleotide variant Pathogenic rs121912797 2:175677168-175677168 2:174812440-174812440
8 CHN1 NM_001822.5(CHN1): c.937G> A (p.Glu313Lys) single nucleotide variant Pathogenic rs121912798 2:175676266-175676266 2:174811538-174811538
9 CHN1 NM_001822.5(CHN1): c.422C> T (p.Pro141Leu) single nucleotide variant Pathogenic rs387906599 2:175742695-175742695 2:174877967-174877967
10 CHN1 NM_001822.5(CHN1): c.754C> T (p.Pro252Ser) single nucleotide variant Pathogenic rs387906600 2:175677169-175677169 2:174812441-174812441
11 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic 20:39316129-39317100 20:40687489-40688460
12 MAFB NM_005461.5(MAFB): c.803del (p.Asn268fs) deletion Pathogenic rs879255275 20:39316688-39316688 20:40688048-40688048
13 MAFB NM_005461.5(MAFB): c.644del (p.Gln215fs) deletion Pathogenic rs879255277 20:39316847-39316847 20:40688207-40688207
14 MAFB NM_005461.5(MAFB): c.440del (p.Gly147fs) deletion Pathogenic rs879255276 20:39317051-39317051 20:40688411-40688411

Expression for Duane Syndrome Type 2

Search GEO for disease gene expression data for Duane Syndrome Type 2.

Pathways for Duane Syndrome Type 2

GO Terms for Duane Syndrome Type 2

Sources for Duane Syndrome Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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