MCID: DNR002
MIFTS: 34

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:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 43Novoseek, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Duane-Radial Ray Syndrome, Aliases & Descriptions:

Name: Duane-Radial Ray Syndrome 45 10 41 20 21 47 22
Okihiro Syndrome 41 21 43 47 60
Drrs 41 21
 
Duane Anomaly with Radial Abnormalities and Deafness 41
Acrorenoocular Syndrome 41
Dr Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
duane-radial ray syndrome:
Inheritance: Autosomal dominant


External Ids:

OMIM45 607323
Orphanet47 93293
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1623209
ICD1025 R68.2

Summaries for Duane-Radial Ray Syndrome

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OMIM:45 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 retinitis and strabismus, and has symptoms including autosomal dominant inheritance, vesicoureteral reflux and horseshoe kidney. An important gene associated with Duane-Radial Ray Syndrome is SALL4 (spalt-like transcription factor 4). Affiliated tissues include bone, eye and heart.

NIH Rare Diseases:41 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:3 See also Health Information for Travelers to Dominican Republic »

Genetics Home Reference:21 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.

Wikipedia:63 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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Diseases related to Duane-Radial Ray Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.3
2strabismus10.3
3acro-renal-ocular syndrome10.3
4okihiro syndrome due to 20q13 microdeletion10.3
5okihiro syndrome due to a point mutation10.3
6holt-oram syndrome10.1
7hemifacial microsomia10.1
8brain cancer10.1
9sall4-related disorders10.1

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 53)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 vesicoureteral reflux HP:0000076
3 horseshoe kidney HP:0000085
4 renal hypoplasia HP:0000089
5 renal agenesis HP:0000104
6 hydronephrosis HP:0000126
7 epicanthus HP:0000286
8 hypertelorism HP:0000316
9 facial asymmetry HP:0000324
10 sensorineural hearing impairment HP:0000407
11 choanal stenosis HP:0000452
12 choanal atresia HP:0000453
13 retinal coloboma HP:0000480
14 congenital strabismus HP:0000487
15 cataract HP:0000518
16 impaired ocular adduction HP:0000542
17 microphthalmos HP:0000568
18 iris coloboma HP:0000612
19 impaired convergence HP:0000619
20 impaired ocular abduction HP:0000634
21 palpebral fissure narrowing on adduction HP:0000661
22 syndactyly HP:0001159
23 triphalangeal thumb HP:0001199
24 small thenar eminence HP:0001245
25 ventricular septal defect HP:0001629
26 defect in the atrial septum HP:0001631
27 abnormality of the nasopharynx HP:0001739
28 pes planus HP:0001763
29 sandal gap HP:0001852
30 anal atresia HP:0002023
31 anal stenosis HP:0002025
32 aganglionic megacolon HP:0002251
33 scoliosis HP:0002650
34 fused cervical vertebrae HP:0002949
35 hypoplasia of the radius HP:0002984
36 hypoplasia of the ulna HP:0003022
37 spina bifida occulta HP:0003298
38 phenotypic variability HP:0003812
39 absent radius HP:0003974
40 renal malrotation HP:0004712
41 crossed fused renal ectopia HP:0004736
42 short humerus HP:0005792
43 optic disc hypoplasia HP:0007766
44 slit-like opening of the exterior auditory meatus HP:0008588
45 pectoralis hypoplasia HP:0008998
46 upper limb muscle hypoplasia HP:0009016
47 radial deviation of the hand HP:0009486
48 absent thumb HP:0009777
49 short thumb HP:0009778
50 duane anomaly HP:0009921
51 aplasia of metacarpal bones HP:0010048
52 facial palsy HP:0010628
53 preaxial polydactyly HP:0100258

Drugs & Therapeutics for Duane-Radial Ray Syndrome

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Drug clinical trials:

Search ClinicalTrials for Duane-Radial Ray Syndrome

Search 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 Syndrome20 22 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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

31
Bone, Eye, Heart, Kidney

Animal Models for Duane-Radial Ray Syndrome or affiliated genes

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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:

62
id Symbol AA change Variation ID SNP ID
1SALL4p.His888ArgVAR_033054

Clinvar genetic disease variations for Duane-Radial Ray Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4NM_020436.3(SALL4): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
2SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenic
3SALL4SALL4, 1-BP INS, 940CinsertionPathogenic
4SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenic
5SALL4NM_020436.3(SALL4): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
6SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenic
7SALL4SALL4, 1-BP DEL, 326CdeletionPathogenic
8SALL4NM_020436.3(SALL4): c.523A> T (p.Lys175Ter)single nucleotide variantPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
9SALL4NM_020436.3(SALL4): c.1849C> T (p.Arg617Ter)single nucleotide variantPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
10SALL4SALL4, DELdeletionPathogenic
11SALL4NM_020436.3(SALL4): c.2713C> T (p.Arg905Ter)single nucleotide variantPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
12SALL4NM_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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Compounds 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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Products for genes affiliated with Duane-Radial Ray Syndrome

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Sources for Duane-Radial Ray Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet