MCID: ACR059
MIFTS: 18

Acro-Renal-Ocular Syndrome malady

Categories: Genetic diseases (common), Nephrological diseases

Aliases & Classifications for Acro-Renal-Ocular Syndrome

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Aliases & Descriptions for Acro-Renal-Ocular Syndrome:

Name: Acro-Renal-Ocular Syndrome 23

Classifications:



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), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, and related mouse phenotypes are cardiovascular system and embryo.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1duane-radial ray syndrome11.9
2holt-oram syndrome10.1
3interstitial nephritis10.1
4pyelonephritis10.1
5pseudohypoparathyroidism ia9.8SALL4, TBX5
6melanotic neuroectodermal tumor9.7SALL4, TBX5
7hemangiopericytoma9.4PAX2, SALL4
8joubert syndrome 139.4SALL4, TBX5
9keratosis follicularis, dwarfism, and cerebral atrophy9.4PAX2, TBX5
10acta1-related nemaline myopathy9.0PAX2, SALL4, 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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome23 SALL4

Anatomical Context for Acro-Renal-Ocular Syndrome

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

34
Eye

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5PAX2, SALL4, TBX5
2MP:00053808.4PAX2, SALL4, TBX5

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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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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Pathways related to Acro-Renal-Ocular Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1PAX2, TBX5

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.0PAX2, SALL4

Biological processes related to Acro-Renal-Ocular Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:00032819.6SALL4, TBX5
2embryonic limb morphogenesisGO:00303269.5SALL4, TBX5
3neural tube closureGO:00018439.4PAX2, SALL4
4heart developmentGO:00075079.2SALL4, TBX5
5positive regulation of transcription from RNA polymerase II promoterGO:00459448.5PAX2, SALL4, TBX5

Molecular functions related to Acro-Renal-Ocular Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:00081349.1PAX2, TBX5
2transcription regulatory region DNA bindingGO:00442128.9PAX2, SALL4

Sources for Acro-Renal-Ocular 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