DRRS
MCID: DNR002
MIFTS: 52

Duane-Radial Ray Syndrome (DRRS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Duane-Radial Ray Syndrome

MalaCards integrated aliases for Duane-Radial Ray Syndrome:

Name: Duane-Radial Ray Syndrome 57 11 19 42 58 73 28 12 5 14 38 75
Okihiro Syndrome 57 11 19 42 58 73 53 71
Drrs 57 19 42 73
Dr Syndrome 57 11 19
Duane Anomaly with Radial Ray Abnormalities and Deafness 57 11
Acrorenoocular Syndrome 57 19
Duane Anomaly with Radial Abnormalities and Deafness 19
Acro-Renal-Ocular Syndrome 58
Acrorenocular Syndrome 11

Characteristics:


Inheritance:

Duane-Radial Ray Syndrome: Autosomal dominant 57
Acro-Renal-Ocular Syndrome: Autosomal dominant 58
Okihiro Syndrome: Autosomal dominant 58

Prevelance:

Acro-Renal-Ocular Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Acro-Renal-Ocular Syndrome: Antenatal,Neonatal 58
Okihiro Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Duane-Radial Ray Syndrome

MedlinePlus Genetics: 42 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.Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a long 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 known as radial ray malformations.People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and upward-turning foot (clubfoot), and fused spinal bones (vertebrae).The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions are caused by mutations in the same gene. Based on these similarities, researchers suspect that Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an overlapping set of syndromes with many possible signs and symptoms. The features of Duane-radial ray syndrome are also similar to those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.

MalaCards based summary: Duane-Radial Ray Syndrome, also known as okihiro syndrome, is related to ivic syndrome and duane retraction syndrome, 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 eye, bone and kidney, and related phenotypes are horseshoe kidney and aplasia/hypoplasia of the radius

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) (Updated 08-Dec-2022)

Orphanet 58 Okihiro syndrome: A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.

Acro-renal-ocular syndrome: A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.

GARD: 19 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 genetic changes in the SALL4 gene and is inherited in an autosomal dominant manner.

Disease Ontology: 11 A syndrome 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.

UniProtKB/Swiss-Prot: 73 Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

Wikipedia: 75 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 top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 ivic syndrome 32.1 SALL4 SALL3 SALL2 SALL1
2 duane retraction syndrome 31.9 SALL4 SALL1 PHOX2A KIF21A CHN1
3 fibrosis of extraocular muscles, congenital, 1 30.4 PHOX2A KIF21A
4 coloboma of macula 30.4 TBX5 SALL2 SALL1
5 strabismus 30.3 SALL4 PHOX2A KIF21A CHN1
6 ocular motility disease 30.3 PHOX2A KIF21A CHN1
7 townes-brocks syndrome 30.1 TBX5 SALL4 SALL3 SALL2 SALL1
8 ptosis 29.7 PHOX2A KIF21A ESCO2
9 okihiro syndrome due to 20q13 microdeletion 11.4
10 okihiro syndrome due to a point mutation 11.4
11 holt-oram syndrome 11.4
12 duane retraction syndrome 1 10.4
13 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
14 sall4-related disorders 10.3
15 abnormal retinal correspondence 10.2 KIF21A CHN1
16 pyelonephritis 10.2
17 myotonic cataract 10.2 PHOX2A KIF21A
18 refractive amblyopia 10.2 PHOX2A CHN1
19 marcus gunn phenomenon 10.2 PHOX2A KIF21A
20 accommodative esotropia 10.2 PHOX2A CHN1
21 tukel syndrome 10.2 PHOX2A KIF21A
22 strabismic amblyopia 10.2 PHOX2A CHN1
23 fibrosis of extraocular muscles, congenital, 2 10.2 PHOX2A KIF21A
24 microphthalmia, isolated 5 10.2 PHOX2A KIF21A
25 duane retraction syndrome 2 10.1
26 movement disease 10.1
27 fetal thalidomide syndrome 10.1
28 phocomelia 10.1
29 posttransplant acute limbic encephalitis 10.1
30 craniofacial microsomia 10.1
31 sensorineural hearing loss 10.1
32 dysgerminoma of ovary 10.1 SALL4 NANOG
33 atrial septal defect 5 10.1 TBX5 RNF166
34 mixed germ cell cancer 10.1 SALL4 NANOG
35 malignant teratoma 10.1 SALL4 NANOG
36 hypotropia 10.1 PHOX2A KIF21A CHN1
37 paralytic squint 10.1 PHOX2A KIF21A CHN1
38 hypertropia 10.1 PHOX2A KIF21A CHN1
39 moebius syndrome 10.1 PHOX2A KIF21A CHN1
40 exotropia 10.1 PHOX2A KIF21A CHN1
41 bladder diverticulum 10.1
42 papillorenal syndrome 10.1
43 urinary tract infection 10.1
44 interstitial nephritis 10.1
45 chronic pyelonephritis 10.1
46 ventricular septal defect 10.1
47 heart septal defect 10.1
48 chronic kidney disease 10.1
49 vesicoureteral reflux 10.1
50 mature teratoma 10.1 SALL4 NANOG

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

Human phenotypes related to Duane-Radial Ray Syndrome:

58 30 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horseshoe kidney 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000085
2 aplasia/hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006501
3 renal malrotation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004712
4 crossed fused renal ectopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004736
5 short distal phalanx of the thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009650
6 sensorineural hearing impairment 58 30 Very rare (1%) Frequent (79-30%)
HP:0000407
7 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
8 broad hallux phalanx 58 30 Frequent (33%) Frequent (79-30%)
HP:0010059
9 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
10 renal hypoplasia/aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008678
11 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000405
12 sandal gap 58 30 Frequent (33%) Frequent (79-30%)
HP:0001852
13 bladder diverticulum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000015
14 preaxial hand polydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001177
15 short hallux 58 30 Frequent (33%) Frequent (79-30%)
HP:0010109
16 triphalangeal thumb 58 30 Frequent (33%) Frequent (79-30%)
HP:0001199
17 hypoplasia of the ulna 58 30 Very rare (1%) Frequent (79-30%)
HP:0003022
18 short palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0012745
19 optic disc hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0007766
20 radial club hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0004059
21 optic disc coloboma 30 Frequent (33%) HP:0000588
22 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
23 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
24 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
25 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
26 postnatal growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008897
27 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
28 aganglionic megacolon 58 30 Very rare (1%) Occasional (29-5%)
HP:0002251
29 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
30 chorioretinal coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000567
31 microphthalmia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000568
32 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
33 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
34 talipes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001883
35 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
36 microcornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000482
37 vertebral fusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002948
38 toe syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001770
39 short humerus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005792
40 slit-like opening of the exterior auditory meatus 30 Occasional (7.5%) HP:0008588
41 hypoplasia of the radius 30 Very rare (1%) HP:0002984
42 fused cervical vertebrae 30 Very rare (1%) HP:0002949
43 shoulder dislocation 30 Very rare (1%) HP:0003834
44 duane anomaly 30 Very rare (1%) HP:0009921
45 small thenar eminence 30 Very rare (1%) HP:0001245
46 pectoralis hypoplasia 30 Very rare (1%) HP:0008998
47 short thumb 58 30 Very frequent (99-80%)
HP:0009778
48 scoliosis 30 HP:0002650
49 facial palsy 30 HP:0010628
50 pes planus 30 HP:0001763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
spina bifida occulta
fused cervical vertebrae

Head And Neck Eyes:
iris coloboma
microphthalmia
impaired ocular abduction
optic disc hypoplasia
retinal coloboma
more
Respiratory Nasopharynx:
choanal atresia
choanal stenosis

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

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

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

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis
renal agenesis
vesicoureteric reflux
hypoplastic kidney
more
Head And Neck Face:
facial asymmetry
facial weakness

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

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

Clinical features from OMIM®:

607323 (Updated 08-Dec-2022)

UMLS symptoms related to Duane-Radial Ray Syndrome:


facial paresis

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 CHN1 PHOX2A RNF166 SALL3 SALL4 TBX5

MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 ESCO2 NANOG SALL1 SALL2 SALL4 TBX5
2 mortality/aging MP:0010768 9.4 CHN1 CRBN ESCO2 KIF21A NANOG PHOX2A

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 28 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

Organs/tissues related to Duane-Radial Ray Syndrome:

MalaCards : Eye, Bone, Kidney, Heart, Prostate, Lung, Breast

Publications for Duane-Radial Ray Syndrome

Articles related to Duane-Radial Ray Syndrome:

(show top 50) (show all 426)
# Title Authors PMID Year
1
A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 53 62 57 5
16402211 2006
2
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. 53 62 57 5
12843316 2003
3
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 53 62 57 5
12395297 2002
4
Okihiro syndrome is caused by SALL4 mutations. 62 57 5
12393809 2002
5
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. 62 57 5
11826030 2002
6
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. 57 5
15342710 2004
7
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. 57 5
12868480 2003
8
Duane syndrome and congenital upper-limb anomalies. A familial occurrence. 57 5
843249 1977
9
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. 53 62 5
16411190 2006
10
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. 53 62 5
16086360 2005
11
Novel frameshift variant in gene SALL4 causing Okihiro syndrome. 62 5
26791099 2016
12
Further delineation of the acro-renal-ocular syndrome. 62 57
8882787 1996
13
Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations. 62 5
8287186 1993
14
A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report. 62 57
1815169 1991
15
Nature of renal involvement in the acro-renal-ocular syndrome. 62 57
2644560 1989
16
The DR syndrome or the Okihiro syndrome? 62 57
3799719 1986
17
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. 62 57
4050857 1985
18
Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. 62 57
6426304 1984
19
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 5
22382802 2012
20
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
21
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 57
12789647 2003
22
Thalidomide may be a mutagen. 5
8025439 1994
23
Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. 57
3605217 1987
24
Simultaneous occurrence of the Holt-Oram and the Duane syndromes. 57
5921340 1966
25
Regulation and function of Spalt proteins during animal development. 53 62
19247946 2009
26
Sall1, sall2, and sall4 are required for neural tube closure in mice. 53 62
18818376 2008
27
The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. 53 62
16790473 2006
28
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. 53 62
16278891 2005
29
Comparison of Transfer Learning Models in Pelvic Tilt and Rotation Measurement in Pediatric Anteroposterior Pelvic Radiographs. 62
35711070 2022
30
Region-of-interest intra-arc MV imaging to facilitate sub-mm positional accuracy with minimal imaging dose during treatment deliveries of small cranial lesions. 62
36052995 2022
31
Explainability and controllability of patient-specific deep learning with attention-based augmentation for markerless image-guided radiotherapy. 62
36354286 2022
32
C-arm positioning for standard projections during spinal implant placement. 62
35933944 2022
33
Feasibility of artificial-intelligence-based synthetic computed tomography in a magnetic resonance-only radiotherapy workflow for brain radiotherapy: Two-way dose validation and 2D/2D kV-image-based positioning. 62
36405564 2022
34
Age and Sex Divergence in Hematopoietic Radiosensitivity in Aged Mouse Models of the Hematopoietic Acute Radiation Syndrome. 62
35834823 2022
35
Reproducibility of chestwall and heart position using surface-guided versus RPM-guided DIBH radiotherapy for left breast cancer. 62
35993318 2022
36
Dynamic Relative Regional Lung Strain Estimated by Electrical Impedance Tomography in an Experimental Model of ARDS. 62
35610029 2022
37
Dynamic relative regional strain visualized by electrical impedance tomography in patients suffering from COVID-19. 62
34386896 2022
38
Assessment of Flatfoot Deformity Using Digitally Reconstructed Radiographs: Reliability and Comparison to Conventional Radiographs. 62
35590471 2022
39
Deep learning-based 2D/3D registration of an atlas to biplanar X-ray images. 62
35294717 2022
40
Translation of 3D Anatomy to 2D Radiographic Angle Measurements in the Ankle Joint: Validity and Reliability. 62
35898795 2022
41
Deep Learning-Based Digitally Reconstructed Tomography of the Chest in the Evaluation of Solitary Pulmonary Nodules: A Feasibility Study. 62
35690536 2022
42
Synthetic 4DCT(MRI) lung phantom generation for 4D radiotherapy and image guidance investigations. 62
35239984 2022
43
Reproducibility of deep inspiration breath-hold technique for left-side breast cancer with respiratory monitoring device, Abches. 62
35018712 2022
44
Head and neck cancer patient positioning using synthetic CT data in MRI-only radiation therapy. 62
35044070 2022
45
Dosimetric verification of IMRT and 3D conformal treatment delivery using EPID. 62
35092921 2022
46
A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome. 62
35179219 2022
47
GAN-based disentanglement learning for chest X-ray rib suppression. 62
35091279 2022
48
Offline generator for digitally reconstructed radiographs of a commercial stereoscopic radiotherapy image-guidance system. 62
35118788 2022
49
Bone suppression on pediatric chest radiographs via a deep learning-based cascade model. 62
35032722 2022
50
Central sensitization of dorsal root potentials and dorsal root reflexes: An in vitro study in the mouse spinal cord. 62
34587321 2022

Variations for Duane-Radial Ray Syndrome

ClinVar genetic disease variations for Duane-Radial Ray Syndrome:

5 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL4 NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter) SNV Pathogenic
3318 rs74315424 GRCh37: 20:50407068-50407068
GRCh38: 20:51790529-51790529
2 SALL4 NM_020436.5(SALL4):c.1054del (p.Ala352fs) DEL Pathogenic
3319 rs1601170510 GRCh37: 20:50407968-50407968
GRCh38: 20:51791429-51791429
3 SALL4 NM_020436.5(SALL4):c.941dup (p.Leu315fs) DUP Pathogenic
3320 rs1601170799 GRCh37: 20:50408080-50408081
GRCh38: 20:51791541-51791542
4 SALL4 NM_020436.5(SALL4):c.1904del (p.Phe635fs) DEL Pathogenic
3321 rs1601168967 GRCh37: 20:50407118-50407118
GRCh38: 20:51790579-51790579
5 SALL4 NM_020436.5(SALL4):c.2425del (p.Ala809fs) DEL Pathogenic
3323 rs1601168015 GRCh37: 20:50406597-50406597
GRCh38: 20:51790058-51790058
6 SALL4 NM_020436.5(SALL4):c.326del (p.Pro109fs) DEL Pathogenic
3324 rs1601171949 GRCh37: 20:50408696-50408696
GRCh38: 20:51792157-51792157
7 SALL4 NM_020436.5(SALL4):c.523A>T (p.Lys175Ter) SNV Pathogenic
3325 rs74315426 GRCh37: 20:50408499-50408499
GRCh38: 20:51791960-51791960
8 SALL4 NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter) SNV Pathogenic
3326 rs74315427 GRCh37: 20:50407173-50407173
GRCh38: 20:51790634-51790634
9 SALL4 SALL4, DEL DEL Pathogenic
3327 GRCh37:
GRCh38:
10 SALL4 NM_020436.5(SALL4):c.410dup (p.Gly138fs) DUP Pathogenic
218947 rs879255537 GRCh37: 20:50408611-50408612
GRCh38: 20:51792072-51792073
11 SALL4 NC_000020.10:g.(?_50400804)_(50418947_?)del DEL Pathogenic
1362243 GRCh37: 20:50400804-50418947
GRCh38:
12 SALL4 NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter) SNV Pathogenic
1415336 GRCh37: 20:50407365-50407365
GRCh38: 20:51790826-51790826
13 SALL4 NM_020436.5(SALL4):c.1959dup (p.Pro654fs) DUP Pathogenic
1411759 GRCh37: 20:50407062-50407063
GRCh38: 20:51790523-51790524
14 SALL4 NM_020436.5(SALL4):c.827dup (p.Ser276fs) DUP Pathogenic
571934 rs1568865283 GRCh37: 20:50408194-50408195
GRCh38: 20:51791655-51791656
15 SALL4 NM_020436.5(SALL4):c.1232del (p.Val411fs) DEL Pathogenic
580810 rs1568864697 GRCh37: 20:50407790-50407790
GRCh38: 20:51791251-51791251
16 SALL4 NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) SNV Pathogenic
854661 rs2078031226 GRCh37: 20:50407221-50407221
GRCh38: 20:51790682-51790682
17 SALL4 NM_020436.5(SALL4):c.1068del (p.Lys357fs) DEL Pathogenic
1684297 GRCh37: 20:50407954-50407954
GRCh38: 20:51791415-51791415
18 SALL4 NC_000020.11:g.(?_51802259)_(51802428_?)del DEL Pathogenic
642045 GRCh37: 20:50418798-50418967
GRCh38: 20:51802259-51802428
19 SALL4 NM_020436.5(SALL4):c.712C>T (p.Gln238Ter) SNV Pathogenic
1697971 GRCh37: 20:50408310-50408310
GRCh38: 20:51791771-51791771
20 SALL4 NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter) SNV Pathogenic
3322 rs74315425 GRCh37: 20:50405549-50405549
GRCh38: 20:51789010-51789010
21 SALL4 NM_020436.5(SALL4):c.563del (p.Gly188fs) DEL Pathogenic
463530 rs1555850961 GRCh37: 20:50408459-50408459
GRCh38: 20:51791920-51791920
22 SALL4 NM_020436.5(SALL4):c.516_522del (p.Gly174fs) DEL Pathogenic
916548 rs2078047390 GRCh37: 20:50408500-50408506
GRCh38: 20:51791961-51791967
23 SALL4 NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter) SNV Pathogenic
1455097 GRCh37: 20:50407305-50407305
GRCh38: 20:51790766-51790766
24 SALL4 NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) SNV Pathogenic
3328 rs74315428 GRCh37: 20:50405429-50405429
GRCh38: 20:51788890-51788890
25 SALL4 NM_020436.5(SALL4):c.2663A>G (p.His888Arg) SNV Pathogenic
3329 rs74315429 GRCh37: 20:50405479-50405479
GRCh38: 20:51788940-51788940
26 SALL4 NM_020436.5(SALL4):c.383del (p.Gly128fs) DEL Likely Pathogenic
1343231 GRCh37: 20:50408639-50408639
GRCh38: 20:51792100-51792100
27 SALL4 NM_020436.5(SALL4):c.131-2A>G SNV Likely Pathogenic
1502089 GRCh37: 20:50408893-50408893
GRCh38: 20:51792354-51792354
28 SALL4 NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser) SNV Uncertain Significance
674937 rs76648342 GRCh37: 20:50400863-50400863
GRCh38: 20:51784324-51784324
29 SALL4 NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) SNV Uncertain Significance
1370536 GRCh37: 20:50400982-50400982
GRCh38: 20:51784443-51784443
30 SALL4 NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) SNV Uncertain Significance
1369285 GRCh37: 20:50407526-50407526
GRCh38: 20:51790987-51790987
31 SALL4 NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys) SNV Uncertain Significance
1370519 GRCh37: 20:50405552-50405552
GRCh38: 20:51789013-51789013
32 SALL4 NM_020436.5(SALL4):c.318C>T (p.Ser106=) SNV Uncertain Significance
1420968 GRCh37: 20:50408704-50408704
GRCh38: 20:51792165-51792165
33 SALL4 NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) SNV Uncertain Significance
1441748 GRCh37: 20:50407142-50407142
GRCh38: 20:51790603-51790603
34 SALL4 NM_020436.5(SALL4):c.2260G>A (p.Val754Met) SNV Uncertain Significance
1437608 GRCh37: 20:50406762-50406762
GRCh38: 20:51790223-51790223
35 SALL4 NM_020436.5(SALL4):c.2816T>G (p.Met939Arg) SNV Uncertain Significance
1462053 GRCh37: 20:50401150-50401150
GRCh38: 20:51784611-51784611
36 SALL4 NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) SNV Uncertain Significance
1507502 GRCh37: 20:50407220-50407220
GRCh38: 20:51790681-51790681
37 SALL4 NM_020436.5(SALL4):c.2370G>A (p.Pro790=) SNV Uncertain Significance
1494490 GRCh37: 20:50406652-50406652
GRCh38: 20:51790113-51790113
38 SALL4 NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) SNV Uncertain Significance
1514811 GRCh37: 20:50406612-50406612
GRCh38: 20:51790073-51790073
39 SALL4 NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) SNV Uncertain Significance
940159 rs373111608 GRCh37: 20:50400886-50400886
GRCh38: 20:51784347-51784347
40 SALL4 NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) SNV Uncertain Significance
850032 rs2078012508 GRCh37: 20:50405474-50405474
GRCh38: 20:51788935-51788935
41 SALL4 NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) SNV Uncertain Significance
856853 rs943513953 GRCh37: 20:50400869-50400869
GRCh38: 20:51784330-51784330
42 SALL4 NM_020436.5(SALL4):c.250A>G (p.Ile84Val) SNV Uncertain Significance
655640 rs1601172072 GRCh37: 20:50408772-50408772
GRCh38: 20:51792233-51792233
43 SALL4 NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) SNV Uncertain Significance
659699 rs201303046 GRCh37: 20:50408486-50408486
GRCh38: 20:51791947-51791947
44 SALL4 NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) SNV Uncertain Significance
1683703 GRCh37: 20:50400989-50400989
GRCh38: 20:51784450-51784450
45 SALL4 NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) SNV Uncertain Significance
1406494 GRCh37: 20:50405438-50405438
GRCh38: 20:51788899-51788899
46 SALL4 NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) SNV Uncertain Significance
1373144 GRCh37: 20:50400989-50400989
GRCh38: 20:51784450-51784450
47 SALL4 NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg) SNV Uncertain Significance
931969 rs2078036143 GRCh37: 20:50407598-50407598
GRCh38: 20:51791059-51791059
48 SALL4 NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn) SNV Uncertain Significance
1699070 GRCh37: 20:50407985-50407985
GRCh38: 20:51791446-51791446
49 SALL4 NM_020436.5(SALL4):c.541G>A (p.Val181Met) SNV Uncertain Significance
338781 rs139382539 GRCh37: 20:50408481-50408481
GRCh38: 20:51791942-51791942
50 SALL4 NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) SNV Uncertain Significance
574506 rs773046204 GRCh37: 20:50408819-50408819
GRCh38: 20:51792280-51792280

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

73
# Symbol AA change Variation ID SNP ID
1 SALL4 p.His888Arg VAR_033054 rs74315429

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
10.37 SALL4 SALL1 NANOG

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 chromocenter GO:0010369 8.92 SALL1 ESCO2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.62 ZNF653 ZFP91 ZBTB39 TBX5 SALL4 SALL3
2 ventricular septum development GO:0003281 9.43 TBX5 SALL4 SALL1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 ZNF653 ZBTB39 TBX5 SALL4 SALL3 SALL2
2 metal ion binding GO:0046872 9.7 ZNF653 ZFP91 ZBTB39 SALL4 SALL3 SALL2

Sources for Duane-Radial Ray Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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