MCID: ACR059
MIFTS: 24

Acro-Renal-Ocular Syndrome malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Acro-Renal-Ocular Syndrome

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MalaCards based summary: 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 (spalt-like transcription factor 4). Affiliated tissues include eye, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Aliases & Classifications for Acro-Renal-Ocular Syndrome

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Acro-Renal-Ocular Syndrome, Aliases & Descriptions:

Name: Acro-Renal-Ocular Syndrome 20


Classifications:

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


Related Diseases for Acro-Renal-Ocular Syndrome

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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 syndrome30.7SALL4, TBX5
2holt-oram syndrome30.7TBX5
3interstitial nephritis10.3
4pyelonephritis10.3
5nephritis10.3
6developmental disabilities9.9PAX2, TBX5
7coloboma9.8PAX2, TBX5

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



Diseases related to acro-renal-ocular syndrome

Symptoms for Acro-Renal-Ocular Syndrome

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Drugs & Therapeutics for Acro-Renal-Ocular Syndrome

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Drug clinical trials:

Search ClinicalTrials for Acro-Renal-Ocular Syndrome

Search NIH Clinical Center for Acro-Renal-Ocular Syndrome

Genetic Tests for Acro-Renal-Ocular Syndrome

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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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MalaCards organs/tissues related to Acro-Renal-Ocular Syndrome:

32
Eye

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3TBX5, SALL4
2MP:00053778.9PAX2, SALL4
3MP:00053808.6TBX5, SALL4, PAX2
4MP:00053858.5TBX5, SALL4, PAX2
5MP:00107688.2TBX5, SALL4, PAX2

Publications for Acro-Renal-Ocular Syndrome

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Articles related to Acro-Renal-Ocular Syndrome:

idTitleAuthorsYear
1
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. (16086360)
2005
2
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. (15342710)
2004
3
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. (12843316)
2003
4
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. (11826030)
2002
5
On the expansion of the phenotype of the acro-renal-ocular syndrome. (10532182)
1999
6
Acro-renal-ocular syndrome: expansion of the phenotype. (9823489)
1998
7
Further delineation of the acro-renal-ocular syndrome. (8882787)
1996
8
Renal involvement in acro-renal-ocular syndrome: interstitial nephritis, unlikely pyelonephritis. (8052350)
1994
9
Nature of renal involvement in the acro-renal-ocular syndrome. (2644560)
1989
10
Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. (6426304)
1984

Variations for Acro-Renal-Ocular Syndrome

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Expression for genes affiliated with Acro-Renal-Ocular Syndrome

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Expression patterns in normal tissues for genes affiliated with Acro-Renal-Ocular Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.7SALL4, PAX2
2nucleusGO:0056348.5TBX5, SALL4, PAX2

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

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:0032819.4TBX5, SALL4
2embryonic limb morphogenesisGO:0303269.4TBX5, SALL4
3negative regulation of transcription from RNA polymerase II promoterGO:0001229.0SALL4, PAX2
4neural tube closureGO:0018438.9SALL4, PAX2
5positive regulation of transcription, DNA-templatedGO:0458938.8TBX5, PAX2
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.5PAX2, SALL4, TBX5

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

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet