DRRS
MCID: DNR002
MIFTS: 39

Duane-Radial Ray Syndrome (DRRS) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases, Nephrological diseases, Ear diseases categories

Summaries for Duane-Radial Ray Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 4CDC, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Duane-Radial Ray Syndrome, also known as okihiro syndrome, is related to retinitis and strabismus, and has symptoms including epicanthic folds, ptosis and nystagmus. An important gene associated with Duane-Radial Ray Syndrome is SALL4 (spalt-like transcription factor 4). Affiliated tissues include bone, eye and heart.

Genetics Home Reference:22 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.

CDC:4 See also Health Information for Travelers to Dominican Republic »

Wikipedia:66 Duane-radial ray syndrome is a rare disorder that affects the eyes and causes abnormalities of bones in... more...

Description from OMIM:48 607323

Aliases & Classifications for Duane-Radial Ray Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 46Novoseek, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
acro-renal-ocular syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
duane-radial ray syndrome:
Inheritance: Autosomal dominant


Aliases & Descriptions:

duane-radial ray syndrome 44 21 23 22 48 50
okihiro syndrome 44 22 46 50 63
drrs 44 22
duane anomaly with radial abnormalities and deafness 44
acro-renal-ocular syndrome 50
acrorenoocular syndrome 44
dr syndrome 44


External Ids:

OMIM48 607323
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C1623209
ICD1026 R68.2

Related Diseases for Duane-Radial Ray Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Duane-Radial Ray Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.3
2strabismus10.3
3acro-renal-ocular syndrome10.3
4okihiro syndrome due to 20q13 microdeletion10.3
5okihiro syndrome due to a point mutation10.3
6interstitial nephritis10.3
7pyelonephritis10.3
8nephritis10.3
9brain cancer10.2
10holt-oram syndrome10.1
11sall4-related disorders10.1

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

607323

Clinical features from OMIM:

607323

Symptoms:

50 (show all 39)
  • epicanthic folds
  • ptosis
  • nystagmus
  • retinoschisis/retinal/chorioretinal coloboma
  • cataract/lens opacification
  • microcornea
  • coloboma of iris
  • vertebral segmentation anomaly/hemivertebrae
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • syndactyly of fingers/interdigital palm
  • talipes-varus/metatarsal varus
  • syndactyly of toes
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • tetralogy of fallot/trilogy of fallot
  • vesicorenal/vesicoureteral reflux
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • hypertelorism
  • bladder and ureter anomalies
  • blepharophimosis/short palpebral fissures
  • strabismus/squint
  • visual loss/blindness/amblyopia
  • coloboma of the optic nerve
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • autosomal dominant inheritance
  • ectopic/horseshoe/fused kidneys
  • thumb hypoplasia/aplasia/absence
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • agenesis/hypoplasia/aplasia of kidneys
  • wide space between 1st-2nd toes
  • broad/bifid big toe
  • short big toe
  • thumb duplication/distal bifid thumb phalangeal bone
  • fingerlike/triphalangeal thumb
  • preaxial polydactyly (hand)
  • radial club hand
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray

Drugs & Therapeutics for Duane-Radial Ray Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Duane-Radial Ray Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Duane-Radial Ray Syndrome:

id Genetic test Affiliating Genes
1 Duane-Radial Ray Syndrome21 23 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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34MalaCards
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MalaCards organs/tissues related to Duane-Radial Ray Syndrome:

34
Bone, Eye, Heart, Kidney

Animal Models for Duane-Radial Ray Syndrome or affiliated genes

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Publications for Duane-Radial Ray Syndrome

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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Duane-Radial Ray Syndrome:

65
id Symbol AA change Variation ID SNP ID
1SALL4p.His888ArgVAR_033054

Clinvar genetic disease variations for Duane-Radial Ray Syndrome:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1SALL4NM_020436.3(SALL4): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
2SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenic
3SALL4SALL4, 1-BP INS, 940CinsertionPathogenic
4SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenic
5SALL4NM_020436.3(SALL4): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
6SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenic
7SALL4SALL4, 1-BP DEL, 326CdeletionPathogenic
8SALL4NM_020436.3(SALL4): c.523A> T (p.Lys175Ter)single nucleotide variantPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
9SALL4NM_020436.3(SALL4): c.1849C> T (p.Arg617Ter)single nucleotide variantPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
10SALL4SALL4, DELdeletionPathogenic
11SALL4NM_020436.3(SALL4): c.2713C> T (p.Arg905Ter)single nucleotide variantPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
12SALL4NM_020436.3(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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16Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Duane-Radial Ray Syndrome

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GO Terms for genes affiliated with Duane-Radial Ray Syndrome

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Products for genes affiliated with Duane-Radial Ray Syndrome

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Sources for Duane-Radial Ray Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet