MCID: DNS004
MIFTS: 14

Duane Syndrome Type 2

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 54 30 6
Duane Retraction Syndrome, Type 2 74
Duane Retraction Syndrome 2 54
Durs2 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


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UMLS 74 C0751083

Summaries for Duane Syndrome Type 2

NIH Rare Diseases : 54 Duane syndromeis 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 1 family:

Duane Syndrome Type 2 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 33.5 CHN1 MAFB
2 duane retraction syndrome 9.7 CHN1 MAFB
3 amblyopia 9.5 CHN1 MAFB

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 30 CHN1

Anatomical Context for Duane Syndrome Type 2

MalaCards organs/tissues related to Duane Syndrome Type 2:

42
Eye

Publications for Duane Syndrome Type 2

Articles related to Duane Syndrome Type 2:

# Title Authors Year
1
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. ( 21555619 )
2011
2
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. ( 18653847 )
2008
3
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. ( 17197532 )
2007
4
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. ( 10942112 )
2000
5
Localization of a gene for Duane retraction syndrome to chromosome 2q31. ( 10577917 )
1999

Variations for Duane Syndrome Type 2

ClinVar genetic disease variations for Duane Syndrome Type 2:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHN1 NM_001822.5(CHN1): c.60A> T (p.Leu20Phe) single nucleotide variant Pathogenic rs121912792 GRCh37 Chromosome 2, 175809670: 175809670
2 CHN1 NM_001822.5(CHN1): c.60A> T (p.Leu20Phe) single nucleotide variant Pathogenic rs121912792 GRCh38 Chromosome 2, 174944942: 174944942
3 CHN1 NM_001822.5(CHN1): c.378T> G (p.Ile126Met) single nucleotide variant Pathogenic rs121912793 GRCh37 Chromosome 2, 175742739: 175742739
4 CHN1 NM_001822.5(CHN1): c.378T> G (p.Ile126Met) single nucleotide variant Pathogenic rs121912793 GRCh38 Chromosome 2, 174878011: 174878011
5 CHN1 NM_001822.5(CHN1): c.427T> C (p.Tyr143His) single nucleotide variant Pathogenic rs121912794 GRCh37 Chromosome 2, 175742690: 175742690
6 CHN1 NM_001822.5(CHN1): c.427T> C (p.Tyr143His) single nucleotide variant Pathogenic rs121912794 GRCh38 Chromosome 2, 174877962: 174877962
7 CHN1 NM_001822.5(CHN1): c.668C> T (p.Ala223Val) single nucleotide variant Pathogenic rs121912795 GRCh37 Chromosome 2, 175689206: 175689206
8 CHN1 NM_001822.5(CHN1): c.668C> T (p.Ala223Val) single nucleotide variant Pathogenic rs121912795 GRCh38 Chromosome 2, 174824478: 174824478
9 CHN1 NM_001822.5(CHN1): c.682G> A (p.Gly228Ser) single nucleotide variant Pathogenic rs121912796 GRCh37 Chromosome 2, 175689192: 175689192
10 CHN1 NM_001822.5(CHN1): c.682G> A (p.Gly228Ser) single nucleotide variant Pathogenic rs121912796 GRCh38 Chromosome 2, 174824464: 174824464
11 CHN1 NM_001822.5(CHN1): c.755C> A (p.Pro252Gln) single nucleotide variant Pathogenic rs121912797 GRCh37 Chromosome 2, 175677168: 175677168
12 CHN1 NM_001822.5(CHN1): c.755C> A (p.Pro252Gln) single nucleotide variant Pathogenic rs121912797 GRCh38 Chromosome 2, 174812440: 174812440
13 CHN1 NM_001822.5(CHN1): c.937G> A (p.Glu313Lys) single nucleotide variant Pathogenic rs121912798 GRCh37 Chromosome 2, 175676266: 175676266
14 CHN1 NM_001822.5(CHN1): c.937G> A (p.Glu313Lys) single nucleotide variant Pathogenic rs121912798 GRCh38 Chromosome 2, 174811538: 174811538
15 CHN1 NM_001822.5(CHN1): c.422C> T (p.Pro141Leu) single nucleotide variant Pathogenic rs387906599 GRCh37 Chromosome 2, 175742695: 175742695
16 CHN1 NM_001822.5(CHN1): c.422C> T (p.Pro141Leu) single nucleotide variant Pathogenic rs387906599 GRCh38 Chromosome 2, 174877967: 174877967
17 CHN1 NM_001822.5(CHN1): c.754C> T (p.Pro252Ser) single nucleotide variant Pathogenic rs387906600 GRCh37 Chromosome 2, 175677169: 175677169
18 CHN1 NM_001822.5(CHN1): c.754C> T (p.Pro252Ser) single nucleotide variant Pathogenic rs387906600 GRCh38 Chromosome 2, 174812441: 174812441
19 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic GRCh37 Chromosome 20, 39316129: 39317100
20 MAFB NM_005461.4(MAFB): c.(?_391)_*(390_?)del deletion Pathogenic GRCh38 Chromosome 20, 40687489: 40688460
21 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh38 Chromosome 20, 40688048: 40688048
22 MAFB NM_005461.4(MAFB): c.803delA (p.Asn268Metfs) deletion Pathogenic rs879255275 GRCh37 Chromosome 20, 39316688: 39316688
23 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh37 Chromosome 20, 39316847: 39316847
24 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh38 Chromosome 20, 40688207: 40688207
25 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh38 Chromosome 20, 40688411: 40688411
26 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh37 Chromosome 20, 39317051: 39317051
27 CHN1 NM_001822.5(CHN1): c.661T> C (p.Tyr221His) single nucleotide variant Pathogenic rs1553475005 GRCh38 Chromosome 2, 174824485: 174824485
28 CHN1 NM_001822.5(CHN1): c.661T> C (p.Tyr221His) single nucleotide variant Pathogenic rs1553475005 GRCh37 Chromosome 2, 175689213: 175689213

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

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