DRRS
MCID: DNR002
MIFTS: 46

Duane-Radial Ray Syndrome (DRRS) malady

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

Summaries for Duane-Radial Ray Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases: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). 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 acro-renal-ocular syndrome and retinitis, and has symptoms including thumb duplication/distal bifid thumb phalangeal bone, thumb hypoplasia/aplasia/absence and bladder and ureter anomalies. An important gene associated with Duane-Radial Ray Syndrome is SALL4 (sal-like 4 (Drosophila)). The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Genetics Home Reference:21 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.

Wikipedia:63 Duane-radial ray syndrome is a rare disorder that affects the eyes and causes abnormalities of bones in... more...

Description from OMIM:46 607323

Aliases & Classifications for Duane-Radial Ray Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 44Novoseek, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 46 48
okihiro syndrome 42 21 44 48 60
drrs 42 21
duane anomaly with radial abnormalities and deafness 42
acro-renal-ocular syndrome 48
acrorenoocular syndrome 42
dr syndrome 42


External Ids:

OMIM46 607323
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1623209

Related Diseases for Duane-Radial Ray Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Duane-Radial Ray Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1acro-renal-ocular syndrome10.4
2retinitis10.3
3strabismus10.3
4image syndrome10.3
5okihiro syndrome due to 20q13 microdeletion10.3
6okihiro syndrome due to a point mutation10.3
7interstitial nephritis10.2
8pyelonephritis10.2
9brain cancer10.2
10holt-oram syndrome10.1
11sall4-related disorders10.0
12imperforate anus10.0SALL1

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



Diseases related to duane-radial ray syndrome

Clinical Features for Duane-Radial Ray Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

607323

Clinical synopsis from OMIM:

607323

Symptoms:

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

Drugs & Therapeutics for Duane-Radial Ray Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Genetic Tests for Duane-Radial Ray Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Duane-Radial Ray Syndrome:

id Genetic test Affiliating Genes
1 Duane-Radial Ray Syndrome20 22 SALL4

Anatomical Context for Duane-Radial Ray Syndrome

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32MalaCards
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MalaCards organs/tissues related to Duane-Radial Ray Syndrome:

32
Bone, Eye, Heart, Kidney

Animal Models for Duane-Radial Ray Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Duane-Radial Ray Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1SALL4, SALL1
2MP:00053819.1SALL4, SALL1
3MP:00053719.0SALL4, SALL1
4MP:00053678.8SALL4, SALL1

Publications for Duane-Radial Ray Syndrome

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Genetic Variations for Duane-Radial Ray Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Duane-Radial Ray Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SALL4p.His888ArgVAR_033054

Expression for genes affiliated with Duane-Radial Ray Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Duane-Radial Ray Syndrome

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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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44Novoseek, 24HMDB
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Compounds related to Duane-Radial Ray Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 2410.1SALL4, SALL1

GO Terms for genes affiliated with Duane-Radial Ray Syndrome

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16Gene Ontology
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Cellular components related to Duane-Radial Ray Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:0007929.1SALL4, SALL1

Biological processes related to Duane-Radial Ray Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:0032819.1SALL4, SALL1
2positive regulation of transcription from RNA polymerase II promoterGO:0459449.1SALL4, SALL1
3neural tube closureGO:0018439.0SALL4, SALL1
4negative regulation of transcription from RNA polymerase II promoterGO:0001228.8SALL4, SALL1

Products for genes affiliated with Duane-Radial Ray Syndrome

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Sources for Duane-Radial Ray Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet