MCID: ACR059
MIFTS: 16

Acro-Renal-Ocular Syndrome malady

Nephrological diseases category

Summaries for Acro-Renal-Ocular Syndrome

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32MalaCards
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MalaCards: Acro-Renal-Ocular Syndrome is related to duane-radial ray syndrome and holt-oram syndrome. An important gene associated with Acro-Renal-Ocular Syndrome is SALL4 (sal-like 4 (Drosophila)). Related mouse phenotypes are hearing/vestibular/ear and embryogenesis.

Aliases & Classifications for Acro-Renal-Ocular Syndrome

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20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

acro-renal-ocular syndrome 20


Related Diseases for Acro-Renal-Ocular Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Acro-Renal-Ocular Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1duane-radial ray syndrome30.5TBX5, SALL4
2holt-oram syndrome30.3TBX5
3interstitial nephritis10.2
4pyelonephritis10.2
5wilms tumor10.0PAX2
6developmental disabilities10.0PAX2, TBX5
7coloboma10.0TBX5, PAX2

Graphical network of diseases related to Acro-Renal-Ocular Syndrome:



Diseases related to acro-renal-ocular syndrome

Clinical Features for Acro-Renal-Ocular Syndrome

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Drugs & Therapeutics for Acro-Renal-Ocular Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Acro-Renal-Ocular Syndrome

Search CenterWatch for Acro-Renal-Ocular Syndrome

Genetic Tests for Acro-Renal-Ocular Syndrome

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20GeneTests
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Genetic tests related to Acro-Renal-Ocular Syndrome:

id Genetic test Affiliating Genes
1 Acro-Renal-Ocular Syndrome20 SALL4

Anatomical Context for Acro-Renal-Ocular Syndrome

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Animal Models for Acro-Renal-Ocular Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Acro-Renal-Ocular Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3PAX2, SALL4
2MP:00053808.4PAX2, TBX5, SALL4
3MP:00053858.2PAX2, TBX5, SALL4

Publications for Acro-Renal-Ocular Syndrome

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Genetic Variations for Acro-Renal-Ocular Syndrome

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Expression for genes affiliated with Acro-Renal-Ocular Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acro-Renal-Ocular Syndrome

Search GEO for disease gene expression data for Acro-Renal-Ocular Syndrome.

Pathways for genes affiliated with Acro-Renal-Ocular Syndrome

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Compounds for genes affiliated with Acro-Renal-Ocular Syndrome

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GO Terms for genes affiliated with Acro-Renal-Ocular Syndrome

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16Gene Ontology
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Cellular components related to Acro-Renal-Ocular Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.3PAX2, SALL4

Biological processes related to Acro-Renal-Ocular Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.3PAX2, SALL4
2neural tube closureGO:0018439.2PAX2, SALL4
3ventricular septum developmentGO:0032819.1TBX5, SALL4
4embryonic limb morphogenesisGO:0303269.1TBX5, SALL4
5positive regulation of transcription, DNA-dependentGO:0458938.8PAX2, TBX5
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.5SALL4, TBX5, PAX2

Molecular functions related to Acro-Renal-Ocular Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036778.5PAX2, TBX5, SALL4

Products for genes affiliated with Acro-Renal-Ocular Syndrome

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Sources for Acro-Renal-Ocular 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