DURS2
MCID: DNR004
MIFTS: 28

Duane Retraction Syndrome 2 (DURS2)

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

Aliases & Classifications for Duane Retraction Syndrome 2

MalaCards integrated aliases for Duane Retraction Syndrome 2:

Name: Duane Retraction Syndrome 2 57 72 29 13 6
Duane Retraction Syndrome, Type 2 39 70
Durs2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
clinical variability (unilateral vs bilateral drs)


HPO:

31
duane retraction syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 604356
OMIM Phenotypic Series 57 PS126800
MeSH 44 D004370
MedGen 41 C0751083
SNOMED-CT via HPO 68 263681008 387742006 60318001
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Duane Retraction Syndrome 2, also known as duane retraction syndrome, type 2, is related to duane retraction syndrome 1 and duane retraction syndrome. 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 : 72 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 retraction syndrome 1 29.6 MAFB CHN1
2 duane retraction syndrome 29.5 MAFB CHN1
3 strabismus 9.9
4 branchiootic syndrome 1 9.9
5 mechanical strabismus 9.9
6 isolated duane retraction syndrome 9.9
7 amblyopia 9.6 MAFB CHN1
8 cleft palate, isolated 9.5 MAFB CHN1

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



Diseases related to Duane Retraction Syndrome 2

Symptoms & Phenotypes for Duane Retraction Syndrome 2

Human phenotypes related to Duane Retraction Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 amblyopia 31 HP:0000646
2 duane anomaly 31 HP:0009921

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
strabismus
impaired ocular abduction
impaired ocular adduction
palpebral fissure narrowing on adduction
globe retraction on adduction

Neurologic Peripheral Nervous System:
small/absent abducens nerves
small oculomotor nerves

Clinical features from OMIM®:

604356 (Updated 05-Apr-2021)

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

Genetic tests related to Duane Retraction Syndrome 2:

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

Anatomical Context for Duane Retraction Syndrome 2

MalaCards organs/tissues related to Duane Retraction Syndrome 2:

40
Eye

Publications for Duane Retraction Syndrome 2

Articles related to Duane Retraction Syndrome 2:

(show all 15)
# Title Authors PMID Year
1
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 61 6 57
18653847 2008
2
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. 6 57 61
17197532 2007
3
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. 6 57
21555619 2011
4
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. 57 6
10942112 2000
5
Localization of a gene for Duane retraction syndrome to chromosome 2q31. 57 6
10577917 1999
6
Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. 57 61
17197533 2007
7
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 6
27181683 2016
8
Expansion of the CHN1 strabismus phenotype. 57
21715346 2011
9
CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. 57
20034095 2010
10
Clinical diversity of hereditary Duane's retraction syndrome. 57
10711888 2000
11
Botulinum toxin-A injection in esotropic Duane syndrome patients up to 2 years of age. 61
30654143 2019
12
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. 61
19541263 2009
13
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. 61
18055799 2007
14
Familial unilateral Brown syndrome. 61
12324876 2002
15
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. 61
11600883 2001

Variations for Duane Retraction Syndrome 2

ClinVar genetic disease variations for Duane Retraction Syndrome 2:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHN1 NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) SNV Pathogenic 17550 rs121912792 GRCh37: 2:175809670-175809670
GRCh38: 2:174944942-174944942
2 CHN1 NM_001822.7(CHN1):c.378T>G (p.Ile126Met) SNV Pathogenic 17551 rs121912793 GRCh37: 2:175742739-175742739
GRCh38: 2:174878011-174878011
3 CHN1 NM_001822.7(CHN1):c.427T>C (p.Tyr143His) SNV Pathogenic 17552 rs121912794 GRCh37: 2:175742690-175742690
GRCh38: 2:174877962-174877962
4 CHN1 NM_001822.7(CHN1):c.668C>T (p.Ala223Val) SNV Pathogenic 17553 rs121912795 GRCh37: 2:175689206-175689206
GRCh38: 2:174824478-174824478
5 CHN1 NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) SNV Pathogenic 17554 rs121912796 GRCh37: 2:175689192-175689192
GRCh38: 2:174824464-174824464
6 CHN1 NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) SNV Pathogenic 17555 rs121912797 GRCh37: 2:175677168-175677168
GRCh38: 2:174812440-174812440
7 CHN1 NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) SNV Pathogenic 17556 rs121912798 GRCh37: 2:175676266-175676266
GRCh38: 2:174811538-174811538
8 CHN1 NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) SNV Pathogenic 29623 rs387906599 GRCh37: 2:175742695-175742695
GRCh38: 2:174877967-174877967
9 CHN1 NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) SNV Pathogenic 29624 rs387906600 GRCh37: 2:175677169-175677169
GRCh38: 2:174812441-174812441
10 MAFB NM_005461.5(MAFB):c.803del (p.Asn268fs) Deletion Pathogenic 224628 rs879255275 GRCh37: 20:39316688-39316688
GRCh38: 20:40688048-40688048
11 MAFB NM_005461.5(MAFB):c.440del (p.Gly147fs) Deletion Pathogenic 224626 rs879255276 GRCh37: 20:39317051-39317051
GRCh38: 20:40688411-40688411
12 MAFB NM_005461.5(MAFB):c.644del (p.Gln215fs) Deletion Pathogenic 224627 rs879255277 GRCh37: 20:39316847-39316847
GRCh38: 20:40688207-40688207
13 CHN1 NM_001822.7(CHN1):c.661T>C (p.Tyr221His) SNV Pathogenic 559835 rs1553475005 GRCh37: 2:175689213-175689213
GRCh38: 2:174824485-174824485
14 MAFB NM_005461.4(MAFB):c.(?_391)_*(390_?)del Deletion Pathogenic 224629 GRCh37: 20:39316129-39317100
GRCh38: 20:40687489-40688460
15 CHN1 NM_001822.7(CHN1):c.80C>G (p.Ala27Gly) SNV Uncertain significance 986383 GRCh37: 2:175809650-175809650
GRCh38: 2:174944922-174944922
16 CHN1 NM_001822.7(CHN1):c.-104C>T SNV Uncertain significance 332473 rs886055156 GRCh37: 2:175869744-175869744
GRCh38: 2:175005016-175005016
17 CHN1 NM_001822.7(CHN1):c.-36C>T SNV Uncertain significance 332470 rs775399462 GRCh37: 2:175869676-175869676
GRCh38: 2:175004948-175004948
18 CHN1 NM_001822.7(CHN1):c.628-15C>T SNV Uncertain significance 332467 rs529028832 GRCh37: 2:175689261-175689261
GRCh38: 2:174824533-174824533
19 CHN1 NM_001822.7(CHN1):c.*154G>A SNV Uncertain significance 332460 rs529610497 GRCh37: 2:175664690-175664690
GRCh38: 2:174799962-174799962
20 CHN1 NM_001822.7(CHN1):c.-74C>T SNV Uncertain significance 332472 rs886055155 GRCh37: 2:175869714-175869714
GRCh38: 2:175004986-175004986
21 CHN1 NM_001822.7(CHN1):c.*756C>T SNV Uncertain significance 892751 GRCh37: 2:175664088-175664088
GRCh38: 2:174799360-174799360
22 CHN1 NM_001822.7(CHN1):c.*635A>C SNV Uncertain significance 892752 GRCh37: 2:175664209-175664209
GRCh38: 2:174799481-174799481
23 CHN1 NM_001822.7(CHN1):c.225C>G (p.Ser75Arg) SNV Uncertain significance 892783 GRCh37: 2:175779821-175779821
GRCh38: 2:174915093-174915093
24 CHN1 NM_001822.7(CHN1):c.193G>A (p.Val65Met) SNV Uncertain significance 892784 GRCh37: 2:175779853-175779853
GRCh38: 2:174915125-174915125
25 CHN1 NM_001822.7(CHN1):c.177C>T (p.Ala59=) SNV Uncertain significance 892785 GRCh37: 2:175779869-175779869
GRCh38: 2:174915141-174915141
26 CHN1 NM_001822.7(CHN1):c.147-4T>G SNV Uncertain significance 892786 GRCh37: 2:175779903-175779903
GRCh38: 2:174915175-174915175
27 CHN1 NM_001822.7(CHN1):c.-298C>G SNV Uncertain significance 332476 rs879722535 GRCh37: 2:175869938-175869938
GRCh38: 2:175005210-175005210
28 CHN1 NM_001822.7(CHN1):c.500C>T (p.Thr167Ile) SNV Uncertain significance 332468 rs752956891 GRCh37: 2:175742617-175742617
GRCh38: 2:174877889-174877889
29 CHN1 NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly) SNV Uncertain significance 332462 rs369847378 GRCh37: 2:175664905-175664905
GRCh38: 2:174800177-174800177
30 CHN1 NM_001822.7(CHN1):c.-160C>G SNV Uncertain significance 332474 rs572040045 GRCh37: 2:175869800-175869800
GRCh38: 2:175005072-175005072
31 CHN1 NM_001822.7(CHN1):c.964+6T>G SNV Uncertain significance 332463 rs764237103 GRCh37: 2:175676233-175676233
GRCh38: 2:174811505-174811505
32 CHN1 NM_001822.7(CHN1):c.432G>C (p.Glu144Asp) SNV Uncertain significance 332469 rs886055154 GRCh37: 2:175742685-175742685
GRCh38: 2:174877957-174877957
33 CHN1 NM_001822.7(CHN1):c.-271T>C SNV Uncertain significance 332475 rs543170770 GRCh37: 2:175869911-175869911
GRCh38: 2:175005183-175005183
34 CHN1 NM_001822.7(CHN1):c.*608A>G SNV Uncertain significance 332458 rs886055153 GRCh37: 2:175664236-175664236
GRCh38: 2:174799508-174799508
35 CHN1 NM_001822.7(CHN1):c.7C>T (p.Leu3=) SNV Uncertain significance 892787 GRCh37: 2:175869634-175869634
GRCh38: 2:175004906-175004906
36 CHN1 NM_001822.7(CHN1):c.-23G>T SNV Uncertain significance 892788 GRCh37: 2:175869663-175869663
GRCh38: 2:175004935-175004935
37 CHN1 NM_001822.7(CHN1):c.*564G>A SNV Uncertain significance 893547 GRCh37: 2:175664280-175664280
GRCh38: 2:174799552-174799552
38 CHN1 NM_001822.7(CHN1):c.*426C>T SNV Uncertain significance 893548 GRCh37: 2:175664418-175664418
GRCh38: 2:174799690-174799690
39 CHN1 NM_001822.7(CHN1):c.*422C>T SNV Uncertain significance 893549 GRCh37: 2:175664422-175664422
GRCh38: 2:174799694-174799694
40 CHN1 NM_001822.7(CHN1):c.*337G>C SNV Uncertain significance 893550 GRCh37: 2:175664507-175664507
GRCh38: 2:174799779-174799779
41 CHN1 NM_001822.7(CHN1):c.*309G>A SNV Uncertain significance 893551 GRCh37: 2:175664535-175664535
GRCh38: 2:174799807-174799807
42 CHN1 NM_001822.7(CHN1):c.*256C>T SNV Uncertain significance 893552 GRCh37: 2:175664588-175664588
GRCh38: 2:174799860-174799860
43 CHN1 NM_001822.7(CHN1):c.*252C>T SNV Uncertain significance 893553 GRCh37: 2:175664592-175664592
GRCh38: 2:174799864-174799864
44 CHN1 NM_001822.7(CHN1):c.*198A>G SNV Uncertain significance 893554 GRCh37: 2:175664646-175664646
GRCh38: 2:174799918-174799918
45 CHN1 NM_001822.7(CHN1):c.-206G>A SNV Uncertain significance 893595 GRCh37: 2:175869846-175869846
GRCh38: 2:175005118-175005118
46 CHN1 NM_001822.7(CHN1):c.-353C>T SNV Uncertain significance 893596 GRCh37: 2:175869993-175869993
GRCh38: 2:175005265-175005265
47 CHN1 NM_001822.7(CHN1):c.*52T>C SNV Uncertain significance 893847 GRCh37: 2:175664792-175664792
GRCh38: 2:174800064-174800064
48 CHN1 NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu) SNV Uncertain significance 893848 GRCh37: 2:175666528-175666528
GRCh38: 2:174801800-174801800
49 CHN1 NM_001822.7(CHN1):c.1002A>G (p.Glu334=) SNV Uncertain significance 893849 GRCh37: 2:175673733-175673733
GRCh38: 2:174809005-174809005
50 CHN1 NM_001822.7(CHN1):c.588C>T (p.Asn196=) SNV Uncertain significance 709072 rs146313212 GRCh37: 2:175711647-175711647
GRCh38: 2:174846919-174846919

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

72
# 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

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

Sources for Duane Retraction Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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