MCID: ACR059
MIFTS: 28

Acro-Renal-Ocular Syndrome

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Acro-Renal-Ocular Syndrome

Summaries for Acro-Renal-Ocular Syndrome

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/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney and eye, and related phenotype is embryo.

Related Diseases for Acro-Renal-Ocular Syndrome

Diseases related to Acro-Renal-Ocular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 duane-radial ray syndrome 12.0
2 holt-oram syndrome 10.0
3 interstitial nephritis 10.0
4 pyelonephritis 10.0
5 joubert syndrome 13 9.7 SALL4 TBX5
6 keratosis follicularis, dwarfism, and cerebral atrophy 9.4 PAX2 TBX5
7 perivascular epithelioid cell tumor 9.1 PAX2 SALL4
8 actc1-related dilated cardiomyopathy 8.9 PAX2 SALL4 TBX5
9 pseudohypoparathyroidism ia 8.9 PAX2 SALL4 TBX5

Graphical network of the top 20 diseases related to Acro-Renal-Ocular Syndrome:



Diseases related to Acro-Renal-Ocular Syndrome

Symptoms & Phenotypes for Acro-Renal-Ocular Syndrome

Human phenotypes related to Acro-Renal-Ocular Syndrome:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 bladder diverticulum 32 frequent (33%) HP:0000015
2 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
3 horseshoe kidney 32 hallmark (90%) HP:0000085
4 epicanthus 32 occasional (7.5%) HP:0000286
5 hypertelorism 32 occasional (7.5%) HP:0000316
6 conductive hearing impairment 32 frequent (33%) HP:0000405
7 sensorineural hearing impairment 32 frequent (33%) HP:0000407
8 microcornea 32 occasional (7.5%) HP:0000482
9 strabismus 32 frequent (33%) HP:0000486
10 visual impairment 32 frequent (33%) HP:0000505
11 ptosis 32 occasional (7.5%) HP:0000508
12 cataract 32 occasional (7.5%) HP:0000518
13 chorioretinal coloboma 32 occasional (7.5%) HP:0000567
14 microphthalmia 32 occasional (7.5%) HP:0000568
15 optic nerve coloboma 32 frequent (33%) HP:0000588
16 iris coloboma 32 occasional (7.5%) HP:0000612
17 nystagmus 32 occasional (7.5%) HP:0000639
18 preaxial hand polydactyly 32 frequent (33%) HP:0001177
19 triphalangeal thumb 32 frequent (33%) HP:0001199
20 tetralogy of fallot 32 occasional (7.5%) HP:0001636
21 toe syndactyly 32 occasional (7.5%) HP:0001770
22 sandal gap 32 frequent (33%) HP:0001852
23 talipes 32 occasional (7.5%) HP:0001883
24 aganglionic megacolon 32 occasional (7.5%) HP:0002251
25 vertebral fusion 32 occasional (7.5%) HP:0002948
26 hypoplasia of the ulna 32 frequent (33%) HP:0003022
27 radial club hand 32 frequent (33%) HP:0004059
28 renal malrotation 32 hallmark (90%) HP:0004712
29 crossed fused renal ectopia 32 hallmark (90%) HP:0004736
30 short humerus 32 occasional (7.5%) HP:0005792
31 finger syndactyly 32 occasional (7.5%) HP:0006101
32 optic disc hypoplasia 32 frequent (33%) HP:0007766
33 renal hypoplasia/aplasia 32 frequent (33%) HP:0008678
34 postnatal growth retardation 32 occasional (7.5%) HP:0008897
35 short distal phalanx of the thumb 32 hallmark (90%) HP:0009650
36 broad hallux phalanx 32 frequent (33%) HP:0010059
37 short hallux 32 frequent (33%) HP:0010109
38 short palpebral fissure 32 frequent (33%) HP:0012745

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.8 TBX5 PAX2 SALL4

Drugs & Therapeutics for Acro-Renal-Ocular Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Acro-Renal-Ocular Syndrome

Genetic Tests for Acro-Renal-Ocular Syndrome

Genetic tests related to Acro-Renal-Ocular Syndrome:

id Genetic test Affiliating Genes
1 Acro-Renal-Ocular Syndrome 24 SALL4

Anatomical Context for Acro-Renal-Ocular Syndrome

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

39
Kidney, Eye

Publications for Acro-Renal-Ocular Syndrome

Articles related to Acro-Renal-Ocular Syndrome:

id Title Authors Year
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

Expression for Acro-Renal-Ocular Syndrome

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

Pathways for Acro-Renal-Ocular Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.75 PAX2 TBX5

GO Terms for Acro-Renal-Ocular Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 8.32 PAX2

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

id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.54 PAX2 SALL4 TBX5
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.43 PAX2 SALL4 TBX5
3 heart development GO:0007507 9.32 SALL4 TBX5
4 neural tube closure GO:0001843 9.16 PAX2 SALL4
5 embryonic limb morphogenesis GO:0030326 8.96 SALL4 TBX5
6 ventricular septum development GO:0003281 8.62 SALL4 TBX5

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.33 PAX2 SALL4 TBX5
2 transcription regulatory region DNA binding GO:0044212 8.96 PAX2 SALL4
3 transcription factor binding GO:0008134 8.8 PAX2 SALL4 TBX5

Sources for Acro-Renal-Ocular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....