MCID: DNR002
MIFTS: 43

Duane-Radial Ray Syndrome

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

Aliases & Classifications for Duane-Radial Ray Syndrome

MalaCards integrated aliases for Duane-Radial Ray Syndrome:

Name: Duane-Radial Ray Syndrome 57 12 53 25 59 75 29 13 6 15 40
Okihiro Syndrome 57 12 53 25 59 75 55 73
Drrs 57 53 25 75
Dr Syndrome 57 12 53
Duane Anomaly with Radial Ray Abnormalities and Deafness 57 12
Acrorenoocular Syndrome 57 53
Duane Anomaly with Radial Abnormalities and Deafness 53
Acro-Renal-Ocular Syndrome 59
Acrorenocular Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
acro-renal-ocular syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
okihiro syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
duane anomaly is not always present
renal anomalies are not always present
gastrointestinal anomalies are not always present
allelic disorder to the ivic syndrome


HPO:

32
duane-radial ray syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Duane-Radial Ray Syndrome

OMIM : 57 Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see 126800), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus. The Holt-Oram syndrome (142900), caused by mutation in the TBX5 gene (601620) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003). (607323)

MalaCards based summary : Duane-Radial Ray Syndrome, also known as okihiro syndrome, is related to holt-oram syndrome and okihiro syndrome due to 20q13 microdeletion, and has symptoms including facial paresis An important gene associated with Duane-Radial Ray Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include bone, eye and kidney, and related phenotypes are hypertelorism and finger syndactyly

UniProtKB/Swiss-Prot : 75 Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

NIH Rare Diseases : 53 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.

CDC : 3 The Centers for Disease Control and Prevention in the Dominican Republic (CDC/DR) has three disease impact goals: 1) prevent new cases of HIV in key populations of men who have sex with men (MSM), female sex workers, and priority populations (migrants), 2) reduce the prevalence of tuberculosis (TB), and 3) reduce the impact of infectious disease outbreaks.

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.

Disease Ontology : 12 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.

Wikipedia : 76 Duane-radial ray syndrome, also known as Okihiro Syndrome, is a rare autosomal dominant disorder that... more...

Related Diseases for Duane-Radial Ray Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 holt-oram syndrome 29.3 SALL4 TBX5
2 okihiro syndrome due to 20q13 microdeletion 11.3
3 okihiro syndrome due to a point mutation 11.3
4 ivic syndrome 11.3
5 hemifacial microsomia 10.1 SALL1 SALL4
6 duane retraction syndrome 1 10.0
7 strabismus 10.0
8 retinitis 10.0
9 interstitial nephritis 10.0
10 pyelonephritis 10.0
11 fetal thalidomide syndrome 10.0
12 townes-brocks syndrome 10.0 SALL1 SALL4
13 deafness, autosomal dominant 28 9.6 CHN1 SALL4
14 ocular motility disease 9.5 CHN1 SALL4
15 duane retraction syndrome 9.4 CHN1 SALL4

Graphical network of the top 20 diseases related to Duane-Radial Ray Syndrome:



Diseases related to Duane-Radial Ray Syndrome

Symptoms & Phenotypes for Duane-Radial Ray Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
spina bifida occulta
fused cervical vertebrae

Head And Neck Eyes:
microphthalmia
iris coloboma
optic disc hypoplasia
impaired ocular abduction
retinal coloboma
more
Head And Neck Face:
facial asymmetry
facial weakness

Skeletal Limbs:
absent radius
hypoplastic humerus
hypoplastic radius
hypoplastic ulna
radial ray abnormalities, highly variable

Skeletal Feet:
flat feet
'sandal gap' between first and second toes

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis
renal agenesis
vesicoureteric reflux
hypoplastic kidney
more
Respiratory Nasopharynx:
choanal atresia
choanal stenosis

Abdomen Gastrointestinal:
anal stenosis
imperforate anus
hirschsprung disease
gastrointestinal anomalies (less common)

Skeletal Hands:
syndactyly
preaxial polydactyly
thenar hypoplasia
radial deviation of hands
hypoplastic thumb(s)
more
Head And Neck Ears:
sensorineural deafness
abnormal pinnae
external ear malformations
slit-like openings of the exterior auditory meatus

Muscle Soft Tissue:
pectoralis hypoplasia
thenar eminence hypoplasia
upper limb muscle hypoplasia


Clinical features from OMIM:

607323

Human phenotypes related to Duane-Radial Ray Syndrome:

59 32 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
7 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
8 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
9 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
10 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
11 postnatal growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008897
12 horseshoe kidney 59 32 hallmark (90%) Very frequent (99-80%) HP:0000085
13 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
14 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
15 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
16 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
17 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
18 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
19 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
20 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
21 bladder diverticulum 59 32 frequent (33%) Frequent (79-30%) HP:0000015
22 short hallux 59 32 frequent (33%) Frequent (79-30%) HP:0010109
23 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
24 vertebral fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002948
25 preaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001177
26 triphalangeal thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001199
27 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
28 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
29 optic nerve coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000588
30 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
31 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
32 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
33 optic disc hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0007766
34 radial club hand 59 32 frequent (33%) Frequent (79-30%) HP:0004059
35 short humerus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005792
36 short thumb 59 32 Very frequent (99-80%) HP:0009778
37 renal malrotation 59 32 hallmark (90%) Very frequent (99-80%) HP:0004712
38 crossed fused renal ectopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004736
39 short distal phalanx of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009650
40 scoliosis 32 HP:0002650
41 facial palsy 32 HP:0010628
42 pes planus 32 HP:0001763
43 abnormality of the thumb 59 Very frequent (99-80%)
44 atrial septal defect 32 HP:0001631
45 anal atresia 32 HP:0002023
46 renal hypoplasia 32 HP:0000089
47 choanal atresia 32 HP:0000453
48 ventricular septal defect 32 HP:0001629
49 spina bifida occulta 32 HP:0003298
50 vertebral segmentation defect 59 Occasional (29-5%)

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 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.4 SALL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 SALL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.4 SALL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.4 CHN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.4 CHN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.4 SALL1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.4 CHN1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.4 CHN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.4 SALL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.4 SALL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.4 CHN1 SALL1

Drugs & Therapeutics for Duane-Radial Ray Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Duane-Radial Ray Syndrome

Genetic Tests for Duane-Radial Ray Syndrome

Genetic tests related to Duane-Radial Ray Syndrome:

# Genetic test Affiliating Genes
1 Duane-Radial Ray Syndrome 29 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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

41
Bone, Eye, Kidney, Heart, Testes

Publications for Duane-Radial Ray Syndrome

Articles related to Duane-Radial Ray Syndrome:

# Title Authors Year
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

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

75
# Symbol AA change Variation ID SNP ID
1 SALL4 p.His888Arg VAR_033054 rs74315429

ClinVar genetic disease variations for Duane-Radial Ray Syndrome:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 SALL4 NM_020436.4(SALL4): c.1954C> T (p.Gln652Ter) single nucleotide variant Pathogenic rs74315424 GRCh37 Chromosome 20, 50407068: 50407068
2 SALL4 NM_020436.4(SALL4): c.1954C> T (p.Gln652Ter) single nucleotide variant Pathogenic rs74315424 GRCh38 Chromosome 20, 51790529: 51790529
3 SALL4 SALL4, 1-BP DEL, 1053G deletion Pathogenic
4 SALL4 SALL4, 1-BP INS, 940C insertion Pathogenic
5 SALL4 SALL4, 1-BP DEL, 1904T deletion Pathogenic
6 SALL4 NM_020436.4(SALL4): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs74315425 GRCh37 Chromosome 20, 50405549: 50405549
7 SALL4 NM_020436.4(SALL4): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs74315425 GRCh38 Chromosome 20, 51789010: 51789010
8 SALL4 SALL4, 1-BP DEL, 2425G deletion Pathogenic
9 SALL4 SALL4, 1-BP DEL, 326C deletion Pathogenic
10 SALL4 NM_020436.4(SALL4): c.523A> T (p.Lys175Ter) single nucleotide variant Pathogenic rs74315426 GRCh37 Chromosome 20, 50408499: 50408499
11 SALL4 NM_020436.4(SALL4): c.523A> T (p.Lys175Ter) single nucleotide variant Pathogenic rs74315426 GRCh38 Chromosome 20, 51791960: 51791960
12 SALL4 NM_020436.4(SALL4): c.1849C> T (p.Arg617Ter) single nucleotide variant Pathogenic rs74315427 GRCh37 Chromosome 20, 50407173: 50407173
13 SALL4 NM_020436.4(SALL4): c.1849C> T (p.Arg617Ter) single nucleotide variant Pathogenic rs74315427 GRCh38 Chromosome 20, 51790634: 51790634
14 SALL4 SALL4, DEL deletion Pathogenic
15 SALL4 NM_020436.4(SALL4): c.2713C> T (p.Arg905Ter) single nucleotide variant Pathogenic rs74315428 GRCh37 Chromosome 20, 50405429: 50405429
16 SALL4 NM_020436.4(SALL4): c.2713C> T (p.Arg905Ter) single nucleotide variant Pathogenic rs74315428 GRCh38 Chromosome 20, 51788890: 51788890
17 SALL4 NM_020436.4(SALL4): c.2663A> G (p.His888Arg) single nucleotide variant Pathogenic rs74315429 GRCh37 Chromosome 20, 50405479: 50405479
18 SALL4 NM_020436.4(SALL4): c.2663A> G (p.His888Arg) single nucleotide variant Pathogenic rs74315429 GRCh38 Chromosome 20, 51788940: 51788940
19 SALL4 NM_020436.4(SALL4): c.496dupC (p.Gln166Profs) duplication Pathogenic rs797044509 GRCh37 Chromosome 20, 50408526: 50408526
20 SALL4 NM_020436.4(SALL4): c.496dupC (p.Gln166Profs) duplication Pathogenic rs797044509 GRCh38 Chromosome 20, 51791987: 51791987
21 SALL4 NM_020436.4(SALL4): c.410dupG (p.Gly138Argfs) duplication Pathogenic rs879255537 GRCh37 Chromosome 20, 50408612: 50408612
22 SALL4 NM_020436.4(SALL4): c.410dupG (p.Gly138Argfs) duplication Pathogenic rs879255537 GRCh38 Chromosome 20, 51792073: 51792073
23 SALL4 NM_020436.4(SALL4): c.645C> G (p.Leu215=) single nucleotide variant Benign rs61737139 GRCh38 Chromosome 20, 51791838: 51791838
24 SALL4 NM_020436.4(SALL4): c.645C> G (p.Leu215=) single nucleotide variant Benign rs61737139 GRCh37 Chromosome 20, 50408377: 50408377
25 SALL4 NM_020436.4(SALL4): c.2182G> C (p.Ala728Pro) single nucleotide variant Benign rs61737142 GRCh37 Chromosome 20, 50406840: 50406840
26 SALL4 NM_020436.4(SALL4): c.2182G> C (p.Ala728Pro) single nucleotide variant Benign rs61737142 GRCh38 Chromosome 20, 51790301: 51790301
27 SALL4 NM_020436.4(SALL4): c.2268C> T (p.Ser756=) single nucleotide variant Likely benign rs145078336 GRCh38 Chromosome 20, 51790215: 51790215
28 SALL4 NM_020436.4(SALL4): c.2268C> T (p.Ser756=) single nucleotide variant Likely benign rs145078336 GRCh37 Chromosome 20, 50406754: 50406754
29 SALL4 NM_020436.4(SALL4): c.2130G> A (p.Thr710=) single nucleotide variant Benign rs61737143 GRCh38 Chromosome 20, 51790353: 51790353
30 SALL4 NM_020436.4(SALL4): c.2130G> A (p.Thr710=) single nucleotide variant Benign rs61737143 GRCh37 Chromosome 20, 50406892: 50406892
31 SALL4 NM_020436.4(SALL4): c.2218C> G (p.Pro740Ala) single nucleotide variant Benign/Likely benign rs149359253 GRCh38 Chromosome 20, 51790265: 51790265
32 SALL4 NM_020436.4(SALL4): c.2218C> G (p.Pro740Ala) single nucleotide variant Benign/Likely benign rs149359253 GRCh37 Chromosome 20, 50406804: 50406804
33 SALL4 NM_020436.4(SALL4): c.563delG (p.Gly188Alafs) deletion Pathogenic GRCh38 Chromosome 20, 51791920: 51791920
34 SALL4 NM_020436.4(SALL4): c.563delG (p.Gly188Alafs) deletion Pathogenic GRCh37 Chromosome 20, 50408459: 50408459
35 SALL4 NM_020436.4(SALL4): c.1311_1321delAAACCCCCAGC (p.Asn438Valfs) deletion Pathogenic GRCh37 Chromosome 20, 50407701: 50407711
36 SALL4 NM_020436.4(SALL4): c.1311_1321delAAACCCCCAGC (p.Asn438Valfs) deletion Pathogenic GRCh38 Chromosome 20, 51791162: 51791172

Expression for Duane-Radial Ray Syndrome

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

Pathways for Duane-Radial Ray Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.31 SALL1 SALL4

GO Terms for Duane-Radial Ray Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 heterochromatin GO:0000792 8.62 SALL1 SALL4

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

# Name GO ID Score Top Affiliating Genes
1 neurogenesis GO:0022008 9.32 SALL1 SALL4
2 somatic stem cell population maintenance GO:0035019 9.26 SALL1 SALL4
3 embryonic limb morphogenesis GO:0030326 9.16 SALL4 TBX5
4 heart development GO:0007507 9.13 SALL1 SALL4 TBX5
5 ventricular septum development GO:0003281 8.8 SALL1 SALL4 TBX5

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.8 SALL1 SALL4 TBX5

Sources for Duane-Radial Ray Syndrome

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74 UMLS via Orphanet
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