MCID: DNR002
MIFTS: 44

Duane-Radial Ray Syndrome malady

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

Aliases & Classifications for Duane-Radial Ray Syndrome

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Aliases & Descriptions for Duane-Radial Ray Syndrome:

Name: Duane-Radial Ray Syndrome 50 46 23 24 52 68 25 12
Okihiro Syndrome 46 23 24 52 68 48 66
Drrs 46 23 24 68
Duane Anomaly with Radial Abnormalities and Deafness 46
 
Acro-Renal-Ocular Syndrome 52
Acrorenoocular Syndrome 46
Dr Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
acro-renal-ocular syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal
duane-radial ray syndrome:
Inheritance: Autosomal dominant

HPO:

62
duane-radial ray syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 607323
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C1623209
MedGen35 C1623209

Summaries for Duane-Radial Ray Syndrome

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OMIM:50 Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper... (607323) more...

MalaCards based summary: Duane-Radial Ray Syndrome, also known as okihiro syndrome, is related to okihiro syndrome due to 20q13 microdeletion and okihiro syndrome due to a point mutation, and has symptoms including aplasia/hypoplasia of the thumb, abnormal localization of kidney and conductive hearing impairment. An important gene associated with Duane-Radial Ray Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye, bone and heart, and related mouse phenotypes are embryo and cardiovascular system.

Genetics Home Reference:24 Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). Also, as the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.

NIH Rare Diseases:46 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). bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a 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 called radial ray malformations. duane-radial ray syndrome is caused by mutations in the sall4 gene. it is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. some cases result from new mutations in the sall4 gene. last updated: 12/14/2009

UniProtKB/Swiss-Prot:68 Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

Wikipedia:69 Duane-radial ray syndrome is a rare disorder that affects the eyes and causes abnormalities of bones in... more...

Related Diseases for Duane-Radial Ray Syndrome

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



Diseases related to duane-radial ray syndrome

Symptoms for Duane-Radial Ray Syndrome

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Symptoms by clinical synopsis from OMIM:

607323

Clinical features from OMIM:

607323

Symptoms:

 52 (show all 44)
  • bladder diverticulum
  • vesicoureteral reflux
  • horseshoe kidney
  • epicanthus
  • hypertelorism
  • conductive hearing impairment
  • sensorineural hearing impairment
  • microcornea
  • strabismus
  • visual impairment
  • ptosis
  • cataract
  • chorioretinal coloboma
  • microphthalmos
  • optic nerve coloboma
  • coloboma
  • iris coloboma
  • nystagmus
  • abnormality of the thumb
  • preaxial hand polydactyly
  • triphalangeal thumb
  • tetralogy of fallot
  • toe syndactyly
  • sandal gap
  • talipes
  • aganglionic megacolon
  • abnormality of the radius
  • vertebral fusion
  • hypoplasia of the ulna
  • vertebral segmentation defect
  • radial club hand
  • renal malrotation
  • crossed fused renal ectopia
  • short humerus
  • finger syndactyly
  • aplasia/hypoplasia of the radius
  • optic disc hypoplasia
  • renal hypoplasia/aplasia
  • postnatal growth retardation
  • short distal phalanx of the thumb
  • short thumb
  • broad hallux phalanx
  • short hallux
  • short palpebral fissure

HPO human phenotypes related to Duane-Radial Ray Syndrome:

(show all 85)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
2 abnormal localization of kidney hallmark (90%) HP:0100542
3 conductive hearing impairment typical (50%) HP:0000405
4 sensorineural hearing impairment typical (50%) HP:0000407
5 strabismus typical (50%) HP:0000486
6 visual impairment typical (50%) HP:0000505
7 blepharophimosis typical (50%) HP:0000581
8 optic nerve coloboma typical (50%) HP:0000588
9 optic atrophy typical (50%) HP:0000648
10 preaxial hand polydactyly typical (50%) HP:0001177
11 triphalangeal thumb typical (50%) HP:0001199
12 preaxial foot polydactyly typical (50%) HP:0001841
13 sandal gap typical (50%) HP:0001852
14 abnormality of the ulna typical (50%) HP:0002997
15 radial club hand typical (50%) HP:0004059
16 renal hypoplasia/aplasia typical (50%) HP:0008678
17 short hallux typical (50%) HP:0010109
18 vesicoureteral reflux occasional (7.5%) HP:0000076
19 epicanthus occasional (7.5%) HP:0000286
20 hypertelorism occasional (7.5%) HP:0000316
21 microcornea occasional (7.5%) HP:0000482
22 ptosis occasional (7.5%) HP:0000508
23 cataract occasional (7.5%) HP:0000518
24 chorioretinal coloboma occasional (7.5%) HP:0000567
25 iris coloboma occasional (7.5%) HP:0000612
26 nystagmus occasional (7.5%) HP:0000639
27 tetralogy of fallot occasional (7.5%) HP:0001636
28 toe syndactyly occasional (7.5%) HP:0001770
29 talipes occasional (7.5%) HP:0001883
30 aganglionic megacolon occasional (7.5%) HP:0002251
31 abnormality of the humerus occasional (7.5%) HP:0003063
32 vertebral segmentation defect occasional (7.5%) HP:0003422
33 finger syndactyly occasional (7.5%) HP:0006101
34 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
35 vesicoureteral reflux HP:0000076
36 horseshoe kidney HP:0000085
37 renal hypoplasia HP:0000089
38 renal agenesis HP:0000104
39 hydronephrosis HP:0000126
40 epicanthus HP:0000286
41 hypertelorism HP:0000316
42 facial asymmetry HP:0000324
43 sensorineural hearing impairment HP:0000407
44 choanal stenosis HP:0000452
45 choanal atresia HP:0000453
46 retinal coloboma HP:0000480
47 congenital strabismus HP:0000487
48 cataract HP:0000518
49 impaired ocular adduction HP:0000542
50 microphthalmia HP:0000568
51 iris coloboma HP:0000612
52 impaired convergence HP:0000619
53 impaired ocular abduction HP:0000634
54 palpebral fissure narrowing on adduction HP:0000661
55 syndactyly HP:0001159
56 triphalangeal thumb HP:0001199
57 small thenar eminence HP:0001245
58 ventricular septal defect HP:0001629
59 atria septal defect HP:0001631
60 abnormality of the nasopharynx HP:0001739
61 pes planus HP:0001763
62 sandal gap HP:0001852
63 anal atresia HP:0002023
64 anal stenosis HP:0002025
65 aganglionic megacolon HP:0002251
66 scoliosis HP:0002650
67 fused cervical vertebrae HP:0002949
68 hypoplasia of the radius HP:0002984
69 hypoplasia of the ulna HP:0003022
70 spina bifida occulta HP:0003298
71 absent radius HP:0003974
72 renal malrotation HP:0004712
73 crossed fused renal ectopia HP:0004736
74 short humerus HP:0005792
75 optic disc hypoplasia HP:0007766
76 slit-like opening of the exterior auditory meatus HP:0008588
77 pectoralis hypoplasia HP:0008998
78 upper limb muscle hypoplasia HP:0009016
79 radial deviation of the hand HP:0009486
80 absent thumb HP:0009777
81 short thumb HP:0009778
82 duane anomaly HP:0009921
83 aplasia of metacarpal bones HP:0010048
84 facial palsy HP:0010628
85 preaxial polydactyly HP:0100258

UMLS symptoms related to Duane-Radial Ray Syndrome:


facial paresis

Drugs & Therapeutics for Duane-Radial Ray Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Duane-Radial Ray Syndrome

Genetic Tests for Duane-Radial Ray Syndrome

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Genetic tests related to Duane-Radial Ray Syndrome:

id Genetic test Affiliating Genes
1 Duane-Radial Ray Syndrome25 23 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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

34
Eye, Bone, Heart, Kidney

Animal Models for Duane-Radial Ray Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.9SALL1, SALL4, TBX5
2MP:00053858.7SALL1, SALL4, TBX5
3MP:00053718.7SALL1, SALL4, TBX5
4MP:00053908.7SALL1, SALL4, TBX5

Publications for Duane-Radial Ray Syndrome

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Articles related to Duane-Radial Ray Syndrome:

idTitleAuthorsYear
1
Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). (23234485)
2012
2
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. (18055799)
2007
3
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. (16086360)
2005
4
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. (12395297)
2002

Variations for Duane-Radial Ray Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1SALL4p.His888ArgVAR_033054rs74315429

Clinvar genetic disease variations for Duane-Radial Ray Syndrome:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4NM_020436.4(SALL4): c.496dupC (p.Gln166Profs)duplicationPathogenicrs797044509GRCh38Chr 20, 51791987: 51791987
2SALL4NM_020436.4(SALL4): c.410dupG (p.Gly138Argfs)duplicationPathogenicrs879255537GRCh38Chr 20, 51792073: 51792073
3SALL4NM_020436.4(SALL4): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
4SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenic
5SALL4SALL4, 1-BP INS, 940CinsertionPathogenic
6SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenic
7SALL4NM_020436.4(SALL4): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
8SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenic
9SALL4SALL4, 1-BP DEL, 326CdeletionPathogenic
10SALL4NM_020436.4(SALL4): c.523A> T (p.Lys175Ter)single nucleotide variantPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
11SALL4NM_020436.4(SALL4): c.1849C> T (p.Arg617Ter)single nucleotide variantPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
12SALL4SALL4, DELdeletionPathogenic
13SALL4NM_020436.4(SALL4): c.2713C> T (p.Arg905Ter)single nucleotide variantPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
14SALL4NM_020436.4(SALL4): c.2663A> G (p.His888Arg)single nucleotide variantPathogenicrs74315429GRCh37Chr 20, 50405479: 50405479

Expression for genes affiliated with Duane-Radial Ray Syndrome

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

Pathways for genes affiliated with Duane-Radial Ray Syndrome

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

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

GO Terms for genes affiliated with Duane-Radial Ray Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00007929.0SALL1, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1embryonic limb morphogenesisGO:00303269.5SALL4, TBX5
2somatic stem cell population maintenanceGO:00350199.3SALL1, SALL4
3ventricular septum developmentGO:00032818.8SALL1, SALL4, TBX5
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.5SALL1, SALL4, TBX5
5heart developmentGO:00075078.4SALL1, SALL4, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.3SALL1, SALL4
2sequence-specific DNA bindingGO:00435658.5SALL1, SALL4, TBX5
3transcription factor activity, sequence-specific DNA bindingGO:00037008.4SALL1, SALL4, TBX5

Sources for Duane-Radial Ray Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet