MCID: DNR004
MIFTS: 19

Duane Retraction Syndrome 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Duane Retraction Syndrome 2

MalaCards integrated aliases for Duane Retraction Syndrome 2:

Name: Duane Retraction Syndrome 2 57 75 13
Duane Retraction Syndrome, Type 2 40 73
Durs2 57 75

Characteristics:

HPO:

32
duane retraction syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604356
MedGen 42 C0751083
MeSH 44 D004370
SNOMED-CT via HPO 69 263681008 387742006 60318001
UMLS 73 C0751083

Summaries for Duane Retraction Syndrome 2

OMIM : 57 Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010). For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800). (604356)

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

UniProtKB/Swiss-Prot : 75 Duane retraction syndrome 2: 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.

Related Diseases for Duane Retraction Syndrome 2

Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 1 Duane Retraction Syndrome 2

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

# Related Disease Score Top Affiliating Genes
1 duane syndrome type 2 30.8 CHN1 MAFB
2 amblyopia 9.2 CHN1 MAFB
3 duane retraction syndrome 9.0 CHN1 MAFB

Symptoms & Phenotypes for Duane Retraction Syndrome 2

Clinical features from OMIM:

604356

Human phenotypes related to Duane Retraction Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 amblyopia 32 very rare (1%) HP:0000646
2 duane anomaly 32 HP:0009921

Drugs & Therapeutics for Duane Retraction Syndrome 2

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

Genetic Tests for Duane Retraction Syndrome 2

Anatomical Context for Duane Retraction Syndrome 2

MalaCards organs/tissues related to Duane Retraction Syndrome 2:

41
Eye

Publications for Duane Retraction Syndrome 2

Variations for Duane Retraction Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Duane Retraction Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 CHN1 p.Leu20Phe VAR_047940 rs121912792
2 CHN1 p.Ile126Met VAR_047941 rs121912793
3 CHN1 p.Tyr143His VAR_047942 rs121912794
4 CHN1 p.Ala223Val VAR_047943 rs121912795
5 CHN1 p.Gly228Ser VAR_047944 rs121912796
6 CHN1 p.Pro252Gln VAR_047945 rs121912797
7 CHN1 p.Glu313Lys VAR_047946 rs121912798

ClinVar genetic disease variations for Duane Retraction Syndrome 2:

6
(show all 26)
# 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

Expression for Duane Retraction Syndrome 2

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

Pathways for Duane Retraction Syndrome 2

GO Terms for Duane Retraction Syndrome 2

Biological processes related to Duane Retraction Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.62 CHN1 MAFB

Sources for Duane Retraction Syndrome 2

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74 UMLS via Orphanet
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