DRRS
MCID: DNR002
MIFTS: 53

Duane-Radial Ray Syndrome (DRRS)

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

Aliases & Classifications for Duane-Radial Ray Syndrome

MalaCards integrated aliases for Duane-Radial Ray Syndrome:

Name: Duane-Radial Ray Syndrome 57 12 20 43 58 72 36 29 13 6 15 39
Okihiro Syndrome 57 12 20 43 58 72 54 70
Drrs 57 20 43 72
Dr Syndrome 57 12 20
Duane Anomaly with Radial Ray Abnormalities and Deafness 57 12
Acrorenoocular Syndrome 57 20
Duane Anomaly with Radial Abnormalities and Deafness 20
Acro-Renal-Ocular Syndrome 58
Acrorenocular Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
acro-renal-ocular syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
okihiro syndrome
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
duane-radial ray syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Duane-Radial Ray Syndrome

MedlinePlus Genetics : 43 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 coloboma of macula, 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 are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Signaling pathways regulating pluripotency of stem cells. The drug Edotreotide has been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are horseshoe kidney and aplasia/hypoplasia of the radius

Disease Ontology : 12 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.

GARD : 20 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.

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 05-Apr-2021)

KEGG : 36 Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder.

UniProtKB/Swiss-Prot : 72 Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

Wikipedia : 73 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 70)
# Related Disease Score Top Affiliating Genes
1 ivic syndrome 32.3 SALL4 SALL2 SALL1
2 coloboma of macula 30.3 TBX5 SALL2 SALL1
3 townes-brocks syndrome 30.2 TBX5 SALL4 SALL2 SALL1
4 hemifacial microsomia 30.2 SALL4 SALL1
5 strabismus 29.9 SALL4 ROBO3 PHOX2A KIF21A CHN1
6 tukel syndrome 29.7 SALL4 ROBO3 PHOX2A KIF21A CHN1
7 okihiro syndrome due to 20q13 microdeletion 11.4
8 okihiro syndrome due to a point mutation 11.4
9 holt-oram syndrome 11.3
10 isolated duane retraction syndrome 11.3
11 duane retraction syndrome 1 10.4
12 mechanical strabismus 10.3
13 sall4-related disorders 10.3
14 abnormal retinal correspondence 10.3 KIF21A CHN1
15 binocular vision disease 10.3 KIF21A CHN1
16 myotonic cataract 10.2 PHOX2A KIF21A
17 ametropic amblyopia 10.2 PHOX2A CHN1
18 marcus gunn phenomenon 10.2 PHOX2A KIF21A
19 suppression amblyopia 10.2 PHOX2A CHN1
20 fibrosis of extraocular muscles, congenital, 2 10.2 PHOX2A KIF21A
21 pyelonephritis 10.2
22 lagophthalmos 10.2 PHOX2A KIF21A
23 microphthalmia, isolated 5 10.2 PHOX2A KIF21A
24 ovarian primitive germ cell tumor 10.2 SALL4 POU5F1
25 ovarian endodermal sinus tumor 10.2 SALL4 POU5F1
26 diencephalic astrocytoma 10.2 SALL4 POU5F1
27 anisometropia 10.2 PHOX2A CHN1
28 central nervous system germ cell tumor 10.1 SALL4 POU5F1
29 paralytic squint 10.1 PHOX2A KIF21A CHN1
30 duane retraction syndrome 2 10.1
31 fetal thalidomide syndrome 10.1
32 phocomelia 10.1
33 posttransplant acute limbic encephalitis 10.1
34 orbital disease 10.1 PHOX2A KIF21A
35 congenital ptosis 10.1 PHOX2A KIF21A CHN1
36 branchiootic syndrome 1 10.1
37 dysgerminoma of ovary 10.1 POU5F1 NANOG
38 diencephalic neoplasm 10.1 SALL4 POU5F1
39 malignant giant cell tumor of soft parts 10.1 POU5F1 NANOG
40 papillorenal syndrome 10.1
41 vesicoureteral reflux 1 10.1
42 ptosis 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 macular degeneration, age-related, 7 10.0 POU5F1 NANOG
49 malignant teratoma 10.0 SALL4 POU5F1 NANOG
50 mature teratoma 10.0 SALL4 POU5F1 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 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horseshoe kidney 58 31 hallmark (90%) Very frequent (99-80%) HP:0000085
2 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
3 renal malrotation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004712
4 crossed fused renal ectopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004736
5 short distal phalanx of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009650
6 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
7 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
8 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
9 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
11 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
12 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
13 bladder diverticulum 58 31 frequent (33%) Frequent (79-30%) HP:0000015
14 preaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001177
15 short hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010109
16 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
17 optic nerve coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000588
18 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
19 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
20 optic disc hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007766
21 radial club hand 58 31 frequent (33%) Frequent (79-30%) HP:0004059
22 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
23 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
24 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
25 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
26 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008897
27 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
28 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
29 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
30 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
31 microphthalmia 58 31 very rare (1%) Occasional (29-5%) HP:0000568
32 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
33 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
34 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
35 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
36 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
37 vertebral fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002948
38 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
39 short humerus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005792
40 slit-like opening of the exterior auditory meatus 31 occasional (7.5%) HP:0008588
41 duane anomaly 31 very rare (1%) HP:0009921
42 short thumb 58 31 Very frequent (99-80%) HP:0009778
43 scoliosis 31 HP:0002650
44 facial palsy 31 HP:0010628
45 pes planus 31 HP:0001763
46 atrial septal defect 31 HP:0001631
47 anal atresia 31 HP:0002023
48 facial asymmetry 31 HP:0000324
49 choanal atresia 31 HP:0000453
50 hydronephrosis 31 HP:0000126

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

UMLS symptoms related to Duane-Radial Ray Syndrome:


facial paresis

MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CHN1 KIF21A NANOG PHOX2A POU5F1 RCOR2
2 embryo MP:0005380 9.85 KIF21A NANOG POU5F1 RIF1 ROBO3 SALL1
3 mortality/aging MP:0010768 9.7 CHN1 KIF21A NANOG PHOX2A POU5F1 RIF1
4 normal MP:0002873 9.17 CHN1 KIF21A POU5F1 RIF1 SALL1 SALL2

Drugs & Therapeutics for Duane-Radial Ray Syndrome

Drugs for Duane-Radial Ray Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Edotreotide

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Comparison of Proton and Carbon Ion Radiotherapy With Advanced Photon Radiotherapy in Skull Base Meningiomas: The PINOCCHIO Trial. Not yet recruiting NCT01795300

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:

40
Eye, Kidney, Brain, Heart

Publications for Duane-Radial Ray Syndrome

Articles related to Duane-Radial Ray Syndrome:

(show top 50) (show all 55)
# 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. 57 6 54 61
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. 61 54 6 57
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. 54 61 57 6
12395297 2002
4
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. 57 6 61
11826030 2002
5
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. 6 57
15342710 2004
6
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. 57 6
12868480 2003
7
Duane syndrome and congenital upper-limb anomalies. A familial occurrence. 57 6
843249 1977
8
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. 6 54 61
16411190 2006
9
Novel frameshift variant in gene SALL4 causing Okihiro syndrome. 61 6
26791099 2016
10
Okihiro syndrome is caused by SALL4 mutations. 61 57
12393809 2002
11
Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations. 61 6
8287186 1993
12
The DR syndrome or the Okihiro syndrome? 57 61
3799719 1986
13
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. 61 57
4050857 1985
14
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 57
12789647 2003
15
Further delineation of the acro-renal-ocular syndrome. 57
8882787 1996
16
Thalidomide may be a mutagen. 6
8025439 1994
17
A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report. 57
1815169 1991
18
Nature of renal involvement in the acro-renal-ocular syndrome. 57
2644560 1989
19
Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. 57
3605217 1987
20
Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. 57
6426304 1984
21
Simultaneous occurrence of the Holt-Oram and the Duane syndromes. 57
5921340 1966
22
Regulation and function of Spalt proteins during animal development. 61 54
19247946 2009
23
Sall1, sall2, and sall4 are required for neural tube closure in mice. 61 54
18818376 2008
24
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. 54 61
16790473 2006
25
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. 61 54
16278891 2005
26
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. 61 54
16086360 2005
27
Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder. 61
32587205 2020
28
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. 61
30552424 2019
29
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations. 61
30603774 2019
30
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. 61
30067223 2018
31
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome. 61
27941963 2016
32
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans. 61
26962299 2015
33
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. 61
25823593 2015
34
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. 61
23713051 2013
35
Sall4 Is Transiently Expressed in the Caudal Wolffian Duct and the Ureteric Bud, but Dispensable for Kidney Development. 61
23825698 2013
36
Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). 61
23234485 2012
37
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. 61
21405998 2011
38
[Progress of study on the transcription factor SALL4]. 61
21729579 2011
39
Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. 61
19619907 2010
40
First-trimester prenatal diagnosis of Okihiro syndrome. 61
20160433 2010
41
Sall4 is essential for stabilization, but not for pluripotency, of embryonic stem cells by repressing aberrant trophectoderm gene expression. 61
19350679 2009
42
[Okihiro syndrome : Duane's syndrome and radial malformations of the limbs]. 61
18299846 2008
43
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. 61
18055799 2007
44
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. 61
17623483 2007
45
Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression. 61
17383611 2007
46
A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. 61
17216607 2007
47
sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. 61
16501170 2006
48
Expression of Xenopus XlSALL4 during limb development and regeneration. 61
15844096 2005
49
[Clinical and molecular genetic findings in isolated sporadic Duane syndrome]. 61
15499520 2004
50
SALL4-Related Disorders 61
20301547 2004

Variations for Duane-Radial Ray Syndrome

ClinVar genetic disease variations for Duane-Radial Ray Syndrome:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL4 NM_020436.5(SALL4):c.827dup (p.Ser276fs) Duplication Pathogenic 571934 rs1568865283 GRCh37: 20:50408194-50408195
GRCh38: 20:51791655-51791656
2 SALL4 NM_020436.5(SALL4):c.1232del (p.Val411fs) Deletion Pathogenic 580810 rs1568864697 GRCh37: 20:50407790-50407790
GRCh38: 20:51791251-51791251
3 SALL4 NC_000020.11:g.(?_51802259)_(51802428_?)del Deletion Pathogenic 642045 GRCh37: 20:50418798-50418967
GRCh38: 20:51802259-51802428
4 SALL4 NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter) SNV Pathogenic 3318 rs74315424 GRCh37: 20:50407068-50407068
GRCh38: 20:51790529-51790529
5 SALL4 NM_020436.5(SALL4):c.1054del (p.Ala352fs) Deletion Pathogenic 3319 rs1601170510 GRCh37: 20:50407968-50407968
GRCh38: 20:51791429-51791429
6 SALL4 NM_020436.5(SALL4):c.941dup (p.Leu315fs) Duplication Pathogenic 3320 rs1601170799 GRCh37: 20:50408080-50408081
GRCh38: 20:51791541-51791542
7 SALL4 NM_020436.5(SALL4):c.1904del (p.Phe635fs) Deletion Pathogenic 3321 rs1601168967 GRCh37: 20:50407118-50407118
GRCh38: 20:51790579-51790579
8 SALL4 NM_020436.5(SALL4):c.2425del (p.Ala809fs) Deletion Pathogenic 3323 rs1601168015 GRCh37: 20:50406597-50406597
GRCh38: 20:51790058-51790058
9 SALL4 NM_020436.5(SALL4):c.326del (p.Pro109fs) Deletion Pathogenic 3324 rs1601171949 GRCh37: 20:50408696-50408696
GRCh38: 20:51792157-51792157
10 SALL4 NM_020436.5(SALL4):c.523A>T (p.Lys175Ter) SNV Pathogenic 3325 rs74315426 GRCh37: 20:50408499-50408499
GRCh38: 20:51791960-51791960
11 SALL4 SALL4, DEL Deletion Pathogenic 3327 GRCh37:
GRCh38:
12 SALL4 NM_020436.5(SALL4):c.410dup (p.Gly138fs) Duplication Pathogenic 218947 rs879255537 GRCh37: 20:50408611-50408612
GRCh38: 20:51792072-51792073
13 SALL4 NM_020436.5(SALL4):c.563del (p.Gly188fs) Deletion Pathogenic 463530 rs1555850961 GRCh37: 20:50408459-50408459
GRCh38: 20:51791920-51791920
14 SALL4 NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) SNV Pathogenic 854661 GRCh37: 20:50407221-50407221
GRCh38: 20:51790682-51790682
15 SALL4 NM_020436.5(SALL4):c.516_522del (p.Gly174fs) Deletion Pathogenic 916548 GRCh37: 20:50408500-50408506
GRCh38: 20:51791961-51791967
16 SALL4 NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter) SNV Pathogenic 3322 rs74315425 GRCh37: 20:50405549-50405549
GRCh38: 20:51789010-51789010
17 SALL4 NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter) SNV Pathogenic 3326 rs74315427 GRCh37: 20:50407173-50407173
GRCh38: 20:51790634-51790634
18 SALL4 NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) SNV Pathogenic 3328 rs74315428 GRCh37: 20:50405429-50405429
GRCh38: 20:51788890-51788890
19 SALL4 NM_020436.5(SALL4):c.2663A>G (p.His888Arg) SNV Pathogenic 3329 rs74315429 GRCh37: 20:50405479-50405479
GRCh38: 20:51788940-51788940
20 SALL4 NM_020436.5(SALL4):c.496dup (p.Gln166fs) Duplication Pathogenic 177616 rs797044509 GRCh37: 20:50408525-50408526
GRCh38: 20:51791986-51791987
21 SALL4 NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) SNV Uncertain significance 574506 rs773046204 GRCh37: 20:50408819-50408819
GRCh38: 20:51792280-51792280
22 SALL4 NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) SNV Uncertain significance 850032 GRCh37: 20:50405474-50405474
GRCh38: 20:51788935-51788935
23 SALL4 NM_020436.5(SALL4):c.541G>A (p.Val181Met) SNV Uncertain significance 338781 rs139382539 GRCh37: 20:50408481-50408481
GRCh38: 20:51791942-51791942
24 SALL4 NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) SNV Uncertain significance 856853 GRCh37: 20:50400869-50400869
GRCh38: 20:51784330-51784330
25 SALL4 NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg) SNV Uncertain significance 931969 GRCh37: 20:50407598-50407598
GRCh38: 20:51791059-51791059
26 SALL4 NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) SNV Uncertain significance 940159 GRCh37: 20:50400886-50400886
GRCh38: 20:51784347-51784347
27 SALL4 NM_020436.5(SALL4):c.250A>G (p.Ile84Val) SNV Uncertain significance 655640 rs1601172072 GRCh37: 20:50408772-50408772
GRCh38: 20:51792233-51792233
28 SALL4 NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) SNV Uncertain significance 659699 rs201303046 GRCh37: 20:50408486-50408486
GRCh38: 20:51791947-51791947
29 SALL4 NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) SNV Likely benign 286842 rs143818932 GRCh37: 20:50407735-50407735
GRCh38: 20:51791196-51791196
30 SALL4 NM_020436.5(SALL4):c.702G>A (p.Gln234=) SNV Likely benign 338778 rs146143890 GRCh37: 20:50408320-50408320
GRCh38: 20:51791781-51791781
31 SALL4 NM_020436.5(SALL4):c.24A>G (p.Lys8=) SNV Likely benign 283382 rs149430070 GRCh37: 20:50418924-50418924
GRCh38: 20:51802385-51802385
32 SALL4 NM_020436.5(SALL4):c.3153G>A (p.Ala1051=) SNV Likely benign 500281 rs142551587 GRCh37: 20:50400813-50400813
GRCh38: 20:51784274-51784274
33 SALL4 NM_020436.5(SALL4):c.2268C>T (p.Ser756=) SNV Likely benign 338768 rs145078336 GRCh37: 20:50406754-50406754
GRCh38: 20:51790215-51790215
34 SALL4 NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) SNV Benign 594694 rs146604877 GRCh37: 20:50407151-50407151
GRCh38: 20:51790612-51790612
35 SALL4 NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) SNV Benign 195362 rs41274696 GRCh37: 20:50406807-50406807
GRCh38: 20:51790268-51790268
36 SALL4 NM_020436.5(SALL4):c.2130G>A (p.Thr710=) SNV Benign 338772 rs61737143 GRCh37: 20:50406892-50406892
GRCh38: 20:51790353-51790353
37 SALL4 NM_020436.5(SALL4):c.645C>G (p.Leu215=) SNV Benign 261265 rs61737139 GRCh37: 20:50408377-50408377
GRCh38: 20:51791838-51791838
38 SALL4 NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) SNV Benign 287110 rs61737142 GRCh37: 20:50406840-50406840
GRCh38: 20:51790301-51790301
39 SALL4 NM_020436.5(SALL4):c.408T>C (p.Asn136=) SNV Benign 338782 rs76870996 GRCh37: 20:50408614-50408614
GRCh38: 20:51792075-51792075
40 SALL4 NM_020436.5(SALL4):c.1950C>T (p.Gly650=) SNV Benign 338773 rs149008635 GRCh37: 20:50407072-50407072
GRCh38: 20:51790533-51790533
41 SALL4 NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) SNV Benign 195357 rs150549656 GRCh37: 20:50406732-50406732
GRCh38: 20:51790193-51790193
42 SALL4 NM_020436.5(SALL4):c.1557C>T (p.Pro519=) SNV Benign 338775 rs75554760 GRCh37: 20:50407465-50407465
GRCh38: 20:51790926-51790926
43 SALL4 NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) SNV Benign 703029 rs139022152 GRCh37: 20:50406984-50406984
GRCh38: 20:51790445-51790445
44 SALL4 NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) SNV Benign 338771 rs147195029 GRCh37: 20:50406860-50406860
GRCh38: 20:51790321-51790321
45 SALL4 NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) SNV Benign 338783 rs77538589 GRCh37: 20:50408673-50408673
GRCh38: 20:51792134-51792134
46 SALL4 NM_020436.5(SALL4):c.2493A>G (p.Arg831=) SNV Benign 338765 rs79909922 GRCh37: 20:50405649-50405649
GRCh38: 20:51789110-51789110
47 SALL4 NM_020436.5(SALL4):c.2051_2053ATG[2] (p.Asp686del) Microsatellite Benign 286503 rs557068877 GRCh37: 20:50406963-50406965
GRCh38: 20:51790424-51790426
48 SALL4 NM_020436.5(SALL4):c.2166A>G (p.Leu722=) SNV Benign 730729 rs141708963 GRCh37: 20:50406856-50406856
GRCh38: 20:51790317-51790317
49 SALL4 NM_020436.5(SALL4):c.1353C>T (p.Ala451=) SNV Benign 195359 rs140110863 GRCh37: 20:50407669-50407669
GRCh38: 20:51791130-51791130
50 SALL4 NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) SNV Benign 281638 rs147158259 GRCh37: 20:50405659-50405659
GRCh38: 20:51789120-51789120

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

72
# 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

GO Terms for Duane-Radial Ray Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 SALL4 SALL2 SALL1 RIF1 POU5F1 NANOG
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 TBX5 SALL4 SALL2 SALL1 POU5F1 PHOX2A
3 regulation of transcription by RNA polymerase II GO:0006357 9.61 ZNF653 TBX5 SALL4 SALL2 SALL1 RCOR2
4 stem cell population maintenance GO:0019827 9.5 SALL4 RIF1 NANOG
5 endodermal cell fate specification GO:0001714 9.37 POU5F1 NANOG
6 ventricular septum development GO:0003281 9.33 TBX5 SALL4 SALL1
7 somatic stem cell population maintenance GO:0035019 8.92 SALL4 SALL1 POU5F1 NANOG

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 TBX5 SALL4 SALL2 SALL1 POU5F1 NANOG
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.62 TBX5 SALL2 PHOX2A NANOG
3 DNA binding GO:0003677 9.56 ZNF653 TBX5 SALL4 SALL2 SALL1 POU5F1
4 transcription factor binding GO:0008134 9.46 ZNF653 TBX5 SALL4 POU5F1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 TBX5 SALL4 SALL2 SALL1 POU5F1 PHOX2A

Sources for Duane-Radial Ray Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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