MCID: DNR002
MIFTS: 43

Duane-Radial Ray Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases, Nephrological diseases, Ear diseases

Aliases & Classifications for Duane-Radial Ray Syndrome

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Aliases & Descriptions for Duane-Radial Ray Syndrome:

Name: Duane-Radial Ray Syndrome 52 11 48 24 25 54 70 27 12
Okihiro Syndrome 11 48 24 25 54 70 50 68
Drrs 48 24 25 70
Dr Syndrome 11 48
Duane Anomaly with Radial Ray Abnormalities and Deafness 11
 
Duane Anomaly with Radial Abnormalities and Deafness 48
Acro-Renal-Ocular Syndrome 54
Acrorenoocular Syndrome 48
Acrorenocular Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
acro-renal-ocular syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal
duane-radial ray syndrome:
Inheritance: Autosomal dominant

HPO:

64
duane-radial ray syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 607323
Disease Ontology11 DOID:0060747
ICD1030 Q87.8
ICD10 via Orphanet31 Q87.8
UMLS via Orphanet69 C1623209
MedGen37 C1623209

Summaries for Duane-Radial Ray Syndrome

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OMIM:52 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 okihiro syndrome due to 20q13 microdeletion and okihiro syndrome due to a point mutation, 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), and among its related pathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye, bone and heart, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system.

Disease Ontology:11 An autosomal dominant disease characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has material basis in heterozygous mutation in the SALL4 gene on chromosome 20q13.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 Duane-radial ray syndrome (DRRS) 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). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger) and partial or complete absence of bones in the forearm. Together, these hand and arm abnormalities are called radial ray malformations. DRRS is caused by mutations in the SALL4 gene and is inherited in an autosomal dominant manner. Treatment of DRRS may include surgery to correct Duane anomaly and radial ray malformations. Last updated: 1/30/2017

UniProtKB/Swiss-Prot:70 Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

Wikipedia:71 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 & Phenotypes for Duane-Radial Ray Syndrome

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Symptoms by clinical synopsis from OMIM:

607323

Clinical features from OMIM:

607323

Human phenotypes related to Duane-Radial Ray Syndrome:

 64 54 (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb64 hallmark (90%) HP:0009601
2 abnormal localization of kidney64 hallmark (90%) HP:0100542
3 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
4 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
5 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
6 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
7 blepharophimosis64 typical (50%) HP:0000581
8 optic nerve coloboma64 54 typical (50%) Frequent (79-30%) HP:0000588
9 optic atrophy64 typical (50%) HP:0000648
10 preaxial hand polydactyly64 54 typical (50%) Frequent (79-30%) HP:0001177
11 triphalangeal thumb64 54 typical (50%) Frequent (79-30%) HP:0001199
12 preaxial foot polydactyly64 typical (50%) HP:0001841
13 sandal gap64 54 typical (50%) Frequent (79-30%) HP:0001852
14 abnormality of the ulna64 typical (50%) HP:0002997
15 radial club hand64 54 typical (50%) Frequent (79-30%) HP:0004059
16 renal hypoplasia/aplasia64 54 typical (50%) Frequent (79-30%) HP:0008678
17 short hallux64 54 typical (50%) Frequent (79-30%) HP:0010109
18 vesicoureteral reflux64 54 occasional (7.5%) Occasional (29-5%) HP:0000076
19 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
20 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
21 microcornea64 54 occasional (7.5%) Occasional (29-5%) HP:0000482
22 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
23 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
24 chorioretinal coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000567
25 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
26 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
27 tetralogy of fallot64 54 occasional (7.5%) Occasional (29-5%) HP:0001636
28 toe syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001770
29 talipes64 54 occasional (7.5%) Occasional (29-5%) HP:0001883
30 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
31 abnormality of the humerus64 occasional (7.5%) HP:0003063
32 vertebral segmentation defect64 54 occasional (7.5%) Occasional (29-5%) HP:0003422
33 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
34 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
35 horseshoe kidney64 54 Very frequent (99-80%) HP:0000085
36 renal hypoplasia64 HP:0000089
37 renal agenesis64 HP:0000104
38 hydronephrosis64 HP:0000126
39 facial asymmetry64 HP:0000324
40 choanal stenosis64 HP:0000452
41 choanal atresia64 HP:0000453
42 retinal coloboma64 HP:0000480
43 congenital strabismus64 HP:0000487
44 impaired ocular adduction64 HP:0000542
45 microphthalmia64 54 Occasional (29-5%) HP:0000568
46 impaired convergence64 HP:0000619
47 impaired ocular abduction64 HP:0000634
48 palpebral fissure narrowing on adduction64 HP:0000661
49 syndactyly64 HP:0001159
50 small thenar eminence64 HP:0001245
51 ventricular septal defect64 HP:0001629
52 atria septal defect64 HP:0001631
53 abnormality of the nasopharynx64 HP:0001739
54 pes planus64 HP:0001763
55 anal atresia64 HP:0002023
56 anal stenosis64 HP:0002025
57 scoliosis64 HP:0002650
58 fused cervical vertebrae64 HP:0002949
59 hypoplasia of the radius64 HP:0002984
60 hypoplasia of the ulna64 54 Frequent (79-30%) HP:0003022
61 spina bifida occulta64 HP:0003298
62 absent radius64 HP:0003974
63 renal malrotation64 54 Very frequent (99-80%) HP:0004712
64 crossed fused renal ectopia64 54 Very frequent (99-80%) HP:0004736
65 short humerus64 54 Occasional (29-5%) HP:0005792
66 optic disc hypoplasia64 54 Frequent (79-30%) HP:0007766
67 slit-like opening of the exterior auditory meatus64 HP:0008588
68 pectoralis hypoplasia64 HP:0008998
69 upper limb muscle hypoplasia64 HP:0009016
70 radial deviation of the hand64 HP:0009486
71 absent thumb64 HP:0009777
72 short thumb64 54 Very frequent (99-80%) HP:0009778
73 duane anomaly64 HP:0009921
74 aplasia of metacarpal bones64 HP:0010048
75 facial palsy64 HP:0010628
76 preaxial polydactyly64 HP:0100258
77 bladder diverticulum54 Frequent (79-30%)
78 coloboma54 Occasional (29-5%)
79 abnormality of the thumb54 Very frequent (99-80%)
80 abnormality of the radius54 Very frequent (99-80%)
81 vertebral fusion54 Occasional (29-5%)
82 aplasia/hypoplasia of the radius54 Very frequent (99-80%)
83 postnatal growth retardation54 Occasional (29-5%)
84 short distal phalanx of the thumb54 Very frequent (99-80%)
85 broad hallux phalanx54 Frequent (79-30%)
86 short palpebral fissure54 Frequent (79-30%)

UMLS symptoms related to Duane-Radial Ray Syndrome:


facial paresis

GenomeRNAi Phenotypes related to Duane-Radial Ray Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.9SALL1, TBX5

MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.4SALL1, SALL4, TBX5
2MP:00053809.4SALL1, SALL4, TBX5
3MP:00053719.3SALL1, SALL4, TBX5
4MP:00053908.5SALL1, SALL4, TBX5

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 Syndrome27 24 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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

36
Eye, Bone, Heart, Kidney

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:

70
id Symbol AA change Variation ID SNP ID
1SALL4p.His888ArgVAR_033054rs74315429

Clinvar genetic disease variations for Duane-Radial Ray Syndrome:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4NM_020436.4(SALL4): c.496dupC (p.Gln166Profs)duplicationPathogenicrs797044509GRCh37Chr 20, 50408526: 50408526
2SALL4NM_020436.4(SALL4): c.410dupG (p.Gly138Argfs)duplicationPathogenicrs879255537GRCh37Chr 20, 50408612: 50408612
3SALL4NM_020436.4(SALL4): c.1954C> T (p.Gln652Ter)SNVPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
4SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenicChr na, -1: -1
5SALL4SALL4, 1-BP INS, 940CinsertionPathogenicChr na, -1: -1
6SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenicChr na, -1: -1
7SALL4NM_020436.4(SALL4): c.2593C> T (p.Arg865Ter)SNVPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
8SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenicChr na, -1: -1
9SALL4SALL4, 1-BP DEL, 326CdeletionPathogenicChr na, -1: -1
10SALL4NM_020436.4(SALL4): c.523A> T (p.Lys175Ter)SNVPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
11SALL4NM_020436.4(SALL4): c.1849C> T (p.Arg617Ter)SNVPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
12SALL4SALL4, DELdeletionPathogenicChr na, -1: -1
13SALL4NM_020436.4(SALL4): c.2713C> T (p.Arg905Ter)SNVPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
14SALL4NM_020436.4(SALL4): c.2663A> G (p.His888Arg)SNVPathogenicrs74315429GRCh37Chr 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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Pathways related to Duane-Radial Ray Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0SALL1, SALL4

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:

idNameGO IDScoreTop Affiliating Genes
1embryonic limb morphogenesisGO:003032610.0SALL4, TBX5
2somatic stem cell population maintenanceGO:00350199.4SALL1, SALL4
3heart developmentGO:00075079.2SALL1, SALL4, TBX5
4positive regulation of transcription from RNA polymerase II promoterGO:00459449.0SALL1, SALL4, TBX5
5ventricular septum developmentGO:00032818.5SALL1, SALL4, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.2SALL1, SALL4, TBX5
2transcription factor activity, sequence-specific DNA bindingGO:00037009.1SALL1, SALL4, TBX5
3transcription regulatory region DNA bindingGO:00442129.0SALL1, SALL4

Sources for Duane-Radial Ray Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet