MCID: ACR059
MIFTS: 24

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 24

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, and has symptoms including bladder diverticulum, vesicoureteral reflux and horseshoe kidney. 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 kidney and 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 syndrome12.0
2holt-oram syndrome10.0
3interstitial nephritis10.0
4pyelonephritis10.0
5brachyolmia type 39.9SALL4, TBX5
6anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis9.7PAX2, TBX5
7adamts10-related weill-marchesani syndrome9.6PAX2, SALL4, TBX5
8pseudohypoparathyroidism ia9.6PAX2, SALL4, TBX5

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



Diseases related to acro-renal-ocular syndrome

Symptoms & Phenotypes for Acro-Renal-Ocular Syndrome

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Human phenotypes related to Acro-Renal-Ocular Syndrome:

 64 (show all 38)
id Description HPO Frequency HPO Source Accession
1 bladder diverticulum64 HP:0000015
2 vesicoureteral reflux64 HP:0000076
3 horseshoe kidney64 HP:0000085
4 epicanthus64 HP:0000286
5 hypertelorism64 HP:0000316
6 conductive hearing impairment64 HP:0000405
7 sensorineural hearing impairment64 HP:0000407
8 microcornea64 HP:0000482
9 strabismus64 HP:0000486
10 visual impairment64 HP:0000505
11 ptosis64 HP:0000508
12 cataract64 HP:0000518
13 chorioretinal coloboma64 HP:0000567
14 microphthalmia64 HP:0000568
15 optic nerve coloboma64 HP:0000588
16 iris coloboma64 HP:0000612
17 nystagmus64 HP:0000639
18 preaxial hand polydactyly64 HP:0001177
19 triphalangeal thumb64 HP:0001199
20 tetralogy of fallot64 HP:0001636
21 toe syndactyly64 HP:0001770
22 sandal gap64 HP:0001852
23 talipes64 HP:0001883
24 aganglionic megacolon64 HP:0002251
25 vertebral fusion64 HP:0002948
26 hypoplasia of the ulna64 HP:0003022
27 radial club hand64 HP:0004059
28 renal malrotation64 HP:0004712
29 crossed fused renal ectopia64 HP:0004736
30 short humerus64 HP:0005792
31 finger syndactyly64 HP:0006101
32 optic disc hypoplasia64 HP:0007766
33 renal hypoplasia/aplasia64 HP:0008678
34 postnatal growth retardation64 HP:0008897
35 short distal phalanx of the thumb64 HP:0009650
36 broad hallux phalanx64 HP:0010059
37 short hallux64 HP:0010109
38 short palpebral fissure64 HP:0012745

MGI Mouse Phenotypes related to Acro-Renal-Ocular Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.2PAX2, SALL4, TBX5
2MP:00053808.5PAX2, SALL4, TBX5

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 Syndrome24 SALL4

Anatomical Context for Acro-Renal-Ocular Syndrome

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

36
Kidney, Eye

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

idNameGO IDScoreTop Affiliating Genes
1embryonic limb morphogenesisGO:003032610.1SALL4, TBX5
2heart developmentGO:000750710.1SALL4, TBX5
3neural tube closureGO:00018439.8PAX2, SALL4
4ventricular septum developmentGO:00032819.3SALL4, TBX5
5positive regulation of transcription from RNA polymerase II promoterGO:00459449.3PAX2, SALL4, TBX5
6transcription, DNA-templatedGO:00063518.9PAX2, SALL4, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036779.2PAX2, SALL4, TBX5
2transcription factor bindingGO:00081349.1PAX2, SALL4, TBX5
3transcription regulatory region DNA bindingGO:00442129.0PAX2, SALL4

Sources for Acro-Renal-Ocular Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet