MCID: DNR002
MIFTS: 45

Duane-Radial Ray Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases, Ear diseases categories

Aliases & Classifications for Duane-Radial Ray Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 47Novoseek, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Duane-Radial Ray Syndrome:

Name: Duane-Radial Ray Syndrome 49 11 45 22 23 51 24 67
Okihiro Syndrome 45 22 23 47 51 65 67
Drrs 45 22 23 67
 
Duane Anomaly with Radial Abnormalities and Deafness 45
Acrorenoocular Syndrome 45
Dr Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
duane-radial ray syndrome:
Inheritance: Autosomal dominant


External Ids:

OMIM49 607323
Orphanet51 93293
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C1623209
ICD1027 R68.2
MedGen34 C1623209

Summaries for Duane-Radial Ray Syndrome

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OMIM:49 Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper... (607323) more...

MalaCards based summary: Duane-Radial Ray Syndrome, also known as okihiro syndrome, is related to holt-oram syndrome and ivic syndrome, and has symptoms including aplasia/hypoplasia of the thumb, abnormal localization of kidney and conductive hearing impairment. An important gene associated with Duane-Radial Ray Syndrome is SALL4 (Spalt-Like Transcription Factor 4). Affiliated tissues include eye, bone and heart, and related mouse phenotypes are skeleton and limbs/digits/tail.

NIH Rare Diseases:45 Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. this condition is characterized by a particular problem with eye movement called duane anomaly (also known as duane syndrome). bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger. partial or complete absence of bones in the forearm is also common. together, these hand and arm abnormalities are called radial ray malformations. duane-radial ray syndrome is caused by mutations in the sall4 gene. it is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. some cases result from new mutations in the sall4 gene. last updated: 12/14/2009

CDC:2 CDC office (physical presence)2 U.S. Assignees9 Locally Employed

Genetics Home Reference:23 Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). Also, as the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.

UniProtKB/Swiss-Prot:67 Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

Wikipedia:68 Duane-radial ray syndrome is a rare disorder that affects the eyes and causes abnormalities of bones in... more...

Related Diseases for Duane-Radial Ray Syndrome

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Graphical network of diseases related to Duane-Radial Ray Syndrome:



Diseases related to duane-radial ray syndrome

Symptoms for Duane-Radial Ray Syndrome

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Symptoms by clinical synopsis from OMIM:

607323

Clinical features from OMIM:

607323

HPO human phenotypes related to Duane-Radial Ray Syndrome:

(show all 87)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
2 abnormal localization of kidney hallmark (90%) HP:0100542
3 conductive hearing impairment typical (50%) HP:0000405
4 sensorineural hearing impairment typical (50%) HP:0000407
5 strabismus typical (50%) HP:0000486
6 visual impairment typical (50%) HP:0000505
7 blepharophimosis typical (50%) HP:0000581
8 optic nerve coloboma typical (50%) HP:0000588
9 optic atrophy typical (50%) HP:0000648
10 preaxial hand polydactyly typical (50%) HP:0001177
11 triphalangeal thumb typical (50%) HP:0001199
12 preaxial foot polydactyly typical (50%) HP:0001841
13 sandal gap typical (50%) HP:0001852
14 abnormality of the ulna typical (50%) HP:0002997
15 radial club hand typical (50%) HP:0004059
16 renal hypoplasia/aplasia typical (50%) HP:0008678
17 short hallux typical (50%) HP:0010109
18 vesicoureteral reflux occasional (7.5%) HP:0000076
19 epicanthus occasional (7.5%) HP:0000286
20 hypertelorism occasional (7.5%) HP:0000316
21 microcornea occasional (7.5%) HP:0000482
22 ptosis occasional (7.5%) HP:0000508
23 cataract occasional (7.5%) HP:0000518
24 chorioretinal coloboma occasional (7.5%) HP:0000567
25 iris coloboma occasional (7.5%) HP:0000612
26 nystagmus occasional (7.5%) HP:0000639
27 tetralogy of fallot occasional (7.5%) HP:0001636
28 toe syndactyly occasional (7.5%) HP:0001770
29 talipes occasional (7.5%) HP:0001883
30 aganglionic megacolon occasional (7.5%) HP:0002251
31 abnormality of the humerus occasional (7.5%) HP:0003063
32 vertebral segmentation defect occasional (7.5%) HP:0003422
33 finger syndactyly occasional (7.5%) HP:0006101
34 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
35 autosomal dominant inheritance HP:0000006
36 vesicoureteral reflux HP:0000076
37 horseshoe kidney HP:0000085
38 renal hypoplasia HP:0000089
39 renal agenesis HP:0000104
40 hydronephrosis HP:0000126
41 epicanthus HP:0000286
42 hypertelorism HP:0000316
43 facial asymmetry HP:0000324
44 sensorineural hearing impairment HP:0000407
45 choanal stenosis HP:0000452
46 choanal atresia HP:0000453
47 retinal coloboma HP:0000480
48 congenital strabismus HP:0000487
49 cataract HP:0000518
50 impaired ocular adduction HP:0000542
51 microphthalmos HP:0000568
52 iris coloboma HP:0000612
53 impaired convergence HP:0000619
54 impaired ocular abduction HP:0000634
55 palpebral fissure narrowing on adduction HP:0000661
56 syndactyly HP:0001159
57 triphalangeal thumb HP:0001199
58 small thenar eminence HP:0001245
59 ventricular septal defect HP:0001629
60 atria septal defect HP:0001631
61 abnormality of the nasopharynx HP:0001739
62 pes planus HP:0001763
63 sandal gap HP:0001852
64 anal atresia HP:0002023
65 anal stenosis HP:0002025
66 aganglionic megacolon HP:0002251
67 scoliosis HP:0002650
68 fused cervical vertebrae HP:0002949
69 hypoplasia of the radius HP:0002984
70 hypoplasia of the ulna HP:0003022
71 spina bifida occulta HP:0003298
72 phenotypic variability HP:0003812
73 absent radius HP:0003974
74 renal malrotation HP:0004712
75 crossed fused renal ectopia HP:0004736
76 short humerus HP:0005792
77 optic disc hypoplasia HP:0007766
78 slit-like opening of the exterior auditory meatus HP:0008588
79 pectoralis hypoplasia HP:0008998
80 upper limb muscle hypoplasia HP:0009016
81 radial deviation of the hand HP:0009486
82 absent thumb HP:0009777
83 short thumb HP:0009778
84 duane anomaly HP:0009921
85 aplasia of metacarpal bones HP:0010048
86 facial palsy HP:0010628
87 preaxial polydactyly HP:0100258

Drugs & Therapeutics for Duane-Radial Ray Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Duane-Radial Ray Syndrome

Genetic Tests for Duane-Radial Ray Syndrome

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Genetic tests related to Duane-Radial Ray Syndrome:

id Genetic test Affiliating Genes
1 Duane-Radial Ray Syndrome22 24 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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MalaCards organs/tissues related to Duane-Radial Ray Syndrome:

33
Eye, Bone, Heart, Kidney

Animal Models for Duane-Radial Ray Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.7SALL1, SALL4, TBX5
2MP:00053718.6SALL1, SALL4, TBX5
3MP:00053858.5SALL1, SALL4, TBX5
4MP:00053808.2SALL1, SALL4, TBX5

Publications for Duane-Radial Ray Syndrome

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Articles related to Duane-Radial Ray Syndrome:

idTitleAuthorsYear
1
Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). (23234485)
2012
2
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. (18055799)
2007
3
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. (16086360)
2005
4
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. (12395297)
2002

Variations for Duane-Radial Ray Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Duane-Radial Ray Syndrome:

67
id Symbol AA change Variation ID SNP ID
1SALL4p.His888ArgVAR_033054

Clinvar genetic disease variations for Duane-Radial Ray Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4NM_020436.3(SALL4): c.496dupC (p.Gln166Profs)duplicationPathogenicrs797044509GRCh38Chr 20, 51791987: 51791987
2SALL4NM_020436.3(SALL4): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
3SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenic
4SALL4SALL4, 1-BP INS, 940CinsertionPathogenic
5SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenic
6SALL4NM_020436.3(SALL4): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
7SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenic
8SALL4SALL4, 1-BP DEL, 326CdeletionPathogenic
9SALL4NM_020436.3(SALL4): c.523A> T (p.Lys175Ter)single nucleotide variantPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
10SALL4NM_020436.3(SALL4): c.1849C> T (p.Arg617Ter)single nucleotide variantPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
11SALL4SALL4, DELdeletionPathogenic
12SALL4NM_020436.3(SALL4): c.2713C> T (p.Arg905Ter)single nucleotide variantPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
13SALL4NM_020436.3(SALL4): c.2663A> G (p.His888Arg)single nucleotide variantPathogenicrs74315429GRCh37Chr 20, 50405479: 50405479

Expression for genes affiliated with Duane-Radial Ray Syndrome

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Search GEO for disease gene expression data for Duane-Radial Ray Syndrome.

Pathways for genes affiliated with Duane-Radial Ray Syndrome

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GO Terms for genes affiliated with Duane-Radial Ray Syndrome

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Cellular components related to Duane-Radial Ray Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00007929.0SALL1, SALL4

Biological processes related to Duane-Radial Ray Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:00351369.7SALL1, TBX5
2neural tube developmentGO:00219159.6SALL1, SALL4
3embryonic limb morphogenesisGO:00303269.5SALL4, TBX5
4neural tube closureGO:00018439.1SALL1, SALL4
5ventricular septum developmentGO:00032818.8SALL1, SALL4, TBX5
6positive regulation of transcription from RNA polymerase II promoterGO:00459448.5SALL1, SALL4, TBX5
7heart developmentGO:00075078.2SALL1, SALL4, TBX5

Molecular functions related to Duane-Radial Ray Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.4SALL1, SALL4
2sequence-specific DNA bindingGO:00435658.5SALL1, SALL4, TBX5
3DNA bindingGO:00036778.4SALL1, SALL4, TBX5
4transcription factor activity, sequence-specific DNA bindingGO:00037008.2SALL1, SALL4, TBX5

Sources for Duane-Radial Ray Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet