MCID: DNR002
MIFTS: 49

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 54 12 50 24 25 56 71 29 13 14
Okihiro Syndrome 12 50 24 25 56 71 52 69
Drrs 50 24 25 71
Dr Syndrome 12 50
Duane Anomaly with Radial Ray Abnormalities and Deafness 12
Duane Anomaly with Radial Abnormalities and Deafness 50
Acro-Renal-Ocular Syndrome 56
Acrorenoocular Syndrome 50
Acrorenocular Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
acro-renal-ocular syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
okihiro syndrome
Inheritance: Autosomal dominant;

OMIM:

54
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 : 54
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 okihiro syndrome due to 20q13 microdeletion and okihiro syndrome due to a point mutation, and has symptoms including hypertelorism, microphthalmia and iris coloboma. An important gene associated with Duane-Radial Ray Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, eye and heart, and related phenotypes are Upregulation of Wnt pathway and embryo

NIH Rare Diseases : 50 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 : 71 Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

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 : 72 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

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:

54

Head And Neck- Face:
facial weakness
facial asymmetry

Head And Neck- Eyes:
cataracts
microphthalmia
iris coloboma
retinal coloboma
hypertelorism, mild
more
Genitourinary- Kidneys:
hydronephrosis
horseshoe kidney
renal agenesis
hypoplastic kidney
vesicoureteric reflux
more
Abdomen- Gastroin testinal:
hirschsprung disease
imperforate anus
anal stenosis
gastrointestinal anomalies (less common)

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

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

Skeletal- Spine:
scoliosis
spina bifida occulta
fused cervical vertebrae

Respiratory- Nasopharynx:
choanal atresia
choanal stenosis

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

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

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


Clinical features from OMIM:

607323

Human phenotypes related to Duane-Radial Ray Syndrome:

56 32 (show top 50) (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 microphthalmia 56 32 Occasional (29-5%) HP:0000568
3 iris coloboma 56 32 Occasional (29-5%) HP:0000612
4 cataract 56 32 Occasional (29-5%) HP:0000518
5 horseshoe kidney 56 32 Very frequent (99-80%) HP:0000085
6 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
7 epicanthus 56 32 Occasional (29-5%) HP:0000286
8 sandal gap 56 32 Frequent (79-30%) HP:0001852
9 short thumb 56 32 Very frequent (99-80%) HP:0009778
10 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
11 triphalangeal thumb 56 32 Frequent (79-30%) HP:0001199
12 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
13 renal malrotation 56 32 Very frequent (99-80%) HP:0004712
14 crossed fused renal ectopia 56 32 Very frequent (99-80%) HP:0004736
15 optic disc hypoplasia 56 32 Frequent (79-30%) HP:0007766
16 short humerus 56 32 Occasional (29-5%) HP:0005792
17 hypoplasia of the ulna 56 32 Frequent (79-30%) HP:0003022
18 scoliosis 32 HP:0002650
19 visual impairment 56 Frequent (79-30%)
20 nystagmus 56 Occasional (29-5%)
21 strabismus 56 Frequent (79-30%)
22 ptosis 56 Occasional (29-5%)
23 choanal atresia 32 HP:0000453
24 atrial septal defect 32 HP:0001631
25 coloboma 56 Occasional (29-5%)
26 hydronephrosis 32 HP:0000126
27 microcornea 56 Occasional (29-5%)
28 ventricular septal defect 32 HP:0001629
29 tetralogy of fallot 56 Occasional (29-5%)
30 spina bifida occulta 32 HP:0003298
31 renal agenesis 32 HP:0000104
32 finger syndactyly 56 Occasional (29-5%)
33 toe syndactyly 56 Occasional (29-5%)
34 syndactyly 32 HP:0001159
35 renal hypoplasia 32 HP:0000089
36 pes planus 32 HP:0001763
37 postnatal growth retardation 56 Occasional (29-5%)
38 facial asymmetry 32 HP:0000324
39 short hallux 56 Frequent (79-30%)
40 fused cervical vertebrae 32 HP:0002949
41 talipes 56 Occasional (29-5%)
42 preaxial polydactyly 32 HP:0100258
43 anal stenosis 32 HP:0002025
44 facial palsy 32 HP:0010628
45 anal atresia 32 HP:0002023
46 retinal coloboma 32 HP:0000480
47 chorioretinal coloboma 56 Occasional (29-5%)
48 choanal stenosis 32 HP:0000452
49 radial club hand 56 Frequent (79-30%)
50 absent radius 32 HP:0003974

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt pathway GR00057-A-1 8.8 ADNP CDX2 SCD5

MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.1 PAX2 SALL1 SALL2 SALL4 TBX3 TBX5
2 cardiovascular system MP:0005385 10.02 BMP4 CDX2 CHD7 CUL3 PAX2 SALL1
3 mortality/aging MP:0010768 9.8 ADNP BMP4 CDX2 CECR2 CHD7 CHN1
4 hearing/vestibular/ear MP:0005377 9.73 BMP4 CECR2 CHD7 PAX2 SALL1 SALL4
5 limbs/digits/tail MP:0005371 9.7 BMP4 CDX2 CHD7 SALL1 SALL4 TBX3
6 skeleton MP:0005390 9.28 CHD7 CHN1 HLA-DRB5 SALL1 SALL4 TBX3

Drugs & Therapeutics for Duane-Radial Ray Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Duane-Radial Ray Syndrome 29 24 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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

39
Bone, Eye, Heart, Kidney

Publications for Duane-Radial Ray Syndrome

Articles related to Duane-Radial Ray Syndrome:

id 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:

71
id 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 14)
id 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 SALL4, 1-BP DEL, 1053G deletion Pathogenic
3 SALL4 SALL4, 1-BP INS, 940C insertion Pathogenic
4 SALL4 SALL4, 1-BP DEL, 1904T deletion Pathogenic
5 SALL4 NM_020436.4(SALL4): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs74315425 GRCh37 Chromosome 20, 50405549: 50405549
6 SALL4 SALL4, 1-BP DEL, 2425G deletion Pathogenic
7 SALL4 SALL4, 1-BP DEL, 326C deletion Pathogenic
8 SALL4 NM_020436.4(SALL4): c.523A> T (p.Lys175Ter) single nucleotide variant Pathogenic rs74315426 GRCh37 Chromosome 20, 50408499: 50408499
9 SALL4 NM_020436.4(SALL4): c.1849C> T (p.Arg617Ter) single nucleotide variant Pathogenic rs74315427 GRCh37 Chromosome 20, 50407173: 50407173
10 SALL4 SALL4, DEL deletion Pathogenic
11 SALL4 NM_020436.4(SALL4): c.2713C> T (p.Arg905Ter) single nucleotide variant Pathogenic rs74315428 GRCh37 Chromosome 20, 50405429: 50405429
12 SALL4 NM_020436.4(SALL4): c.2663A> G (p.His888Arg) single nucleotide variant Pathogenic rs74315429 GRCh37 Chromosome 20, 50405479: 50405479
13 SALL4 NM_020436.4(SALL4): c.496dupC (p.Gln166Profs) duplication Pathogenic rs797044509 GRCh38 Chromosome 20, 51791987: 51791987
14 SALL4 NM_020436.4(SALL4): c.410dupG (p.Gly138Argfs) duplication Pathogenic rs879255537 GRCh37 Chromosome 20, 50408612: 50408612

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:

id Super pathways Score Top Affiliating Genes
1 11.05 BMP4 CDX2 PAX2 TBX5

GO Terms for Duane-Radial Ray Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 heterochromatin GO:0000792 8.96 SALL1 SALL4
2 NuRD complex GO:0016581 8.62 SALL1 SALL2

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 BMP4 CDX2 PAX2 SALL1 TBX3 TBX5
2 heart development GO:0007507 9.91 BMP4 SALL1 SALL4 TBX5
3 in utero embryonic development GO:0001701 9.89 CHD7 CUL3 SALL4 TBX3
4 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.8 BMP4 CDX2 CUL3 SALL1 SALL2 SALL4
5 camera-type eye development GO:0043010 9.77 BMP4 CHD7 PAX2
6 somatic stem cell population maintenance GO:0035019 9.76 CDX2 SALL1 SALL4
7 embryonic digit morphogenesis GO:0042733 9.73 BMP4 SALL1 TBX3
8 embryonic limb morphogenesis GO:0030326 9.72 BMP4 SALL4 TBX5
9 neural tube development GO:0021915 9.69 CECR2 SALL2 SALL4
10 negative regulation of myoblast differentiation GO:0045662 9.65 BMP4 TBX3
11 tissue development GO:0009888 9.65 BMP4 SALL4
12 anterior/posterior axis specification GO:0009948 9.65 BMP4 CDX2
13 branching involved in ureteric bud morphogenesis GO:0001658 9.65 BMP4 PAX2 SALL1
14 mesonephros development GO:0001823 9.63 BMP4 PAX2
15 endocardial cushion development GO:0003197 9.62 BMP4 TBX5
16 forelimb morphogenesis GO:0035136 9.61 TBX3 TBX5
17 epithelium development GO:0060429 9.58 BMP4 CHD7
18 ventricular septum development GO:0003281 9.58 SALL1 SALL4 TBX5
19 metanephric collecting duct development GO:0072205 9.57 BMP4 PAX2
20 cardiac muscle cell differentiation GO:0055007 9.54 BMP4 TBX3 TBX5
21 female genitalia development GO:0030540 9.52 CHD7 TBX3
22 embryonic hindlimb morphogenesis GO:0035116 9.5 BMP4 CHD7 TBX3
23 specification of animal organ position GO:0010159 9.46 BMP4 TBX3
24 neural tube closure GO:0001843 9.46 BMP4 CECR2 PAX2 SALL4
25 olfactory nerve development GO:0021553 9.43 CHD7 SALL1
26 blood vessel development GO:0001568 9.26 BMP4 CDX2 CHD7 TBX3
27 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 8.8 BMP4 PAX2 SALL1
28 regulation of transcription, DNA-templated GO:0006355 10.3 ADNP CDX2 CHD7 PAX2 SALL1 SALL2
29 transcription, DNA-templated GO:0006351 10.28 ADNP CDX2 CHD7 PAX2 SALL1 SALL2
30 negative regulation of transcription, DNA-templated GO:0045892 10.04 BMP4 PAX2 SALL1 SALL2 TBX3
31 positive regulation of cell proliferation GO:0008284 10.03 BMP4 CDX2 CUL3 PAX2 TBX3
32 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.01 BMP4 CHD7 PAX2 SALL1 SALL4 TBX5

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.73 CDX2 SALL1 SALL2 SALL4 TBX3 TBX5
2 DNA binding GO:0003677 9.61 ADNP CDX2 CHD7 PAX2 SALL1 SALL2
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 CHD7 SALL1 TBX3
4 transcription regulatory region DNA binding GO:0044212 9.46 PAX2 SALL1 SALL2 SALL4
5 sequence-specific DNA binding GO:0043565 9.1 CDX2 SALL1 SALL2 SALL4 TBX3 TBX5

Sources for Duane-Radial Ray Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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