MCID: ACR059
MIFTS: 30

Acro-Renal-Ocular Syndrome malady

Genetic diseases, Fetal diseases, Rare diseases, Nephrological diseases categories

Summaries for Acro-Renal-Ocular Syndrome

About this section


MalaCards based summary: Acro-Renal-Ocular Syndrome is related to holt-oram syndrome and duane-radial ray syndrome, and has symptoms including aplasia/hypoplasia of the thumb, abnormal localization of kidney and conductive hearing impairment. An important gene associated with Acro-Renal-Ocular Syndrome is SALL4 (spalt-like transcription factor 4). Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Aliases & Classifications for Acro-Renal-Ocular Syndrome

About this section
Sources:
20GeneTests, 47Orphanet, 26ICD10 via Orphanet
See all sources

Acro-Renal-Ocular Syndrome, Aliases & Descriptions:

Name: Acro-Renal-Ocular Syndrome 20 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
acro-renal-ocular syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet47 959
ICD10 via Orphanet26 Q87.8

Related Diseases for Acro-Renal-Ocular Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1holt-oram syndrome30.7TBX5
2duane-radial ray syndrome30.6SALL4, TBX5
3interstitial nephritis10.3
4pyelonephritis10.3
5nephritis10.3
6developmental disabilities9.9PAX2, TBX5
7coloboma9.7PAX2, TBX5

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



Diseases related to acro-renal-ocular syndrome

Symptoms for Acro-Renal-Ocular Syndrome

About this section

Symptoms:

 47 (show all 39)
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • thumb hypoplasia/aplasia/absence
  • ectopic/horseshoe/fused kidneys
  • autosomal dominant inheritance
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • coloboma of the optic nerve
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • blepharophimosis/short palpebral fissures
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • radial club hand
  • preaxial polydactyly (hand)
  • fingerlike/triphalangeal thumb
  • thumb duplication/distal bifid thumb phalangeal bone
  • short big toe
  • broad/bifid big toe
  • wide space between 1st-2nd toes
  • agenesis/hypoplasia/aplasia of kidneys
  • bladder and ureter anomalies
  • hypertelorism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • microcornea
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • nystagmus
  • ptosis
  • epicanthic folds
  • vertebral segmentation anomaly/hemivertebrae
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • syndactyly of fingers/interdigital palm
  • talipes-varus/metatarsal varus
  • syndactyly of toes
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • tetralogy of fallot/trilogy of fallot
  • vesicorenal/vesicoureteral reflux
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Acro-Renal-Ocular Syndrome:

(show all 34)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
2 abnormal localization of kidney hallmark (90%) HP:0100542
3 conductive hearing impairment typical (50%) HP:0000405
4 sensorineural hearing impairment typical (50%) HP:0000407
5 strabismus typical (50%) HP:0000486
6 visual impairment typical (50%) HP:0000505
7 blepharophimosis typical (50%) HP:0000581
8 optic nerve coloboma typical (50%) HP:0000588
9 optic atrophy typical (50%) HP:0000648
10 preaxial hand polydactyly typical (50%) HP:0001177
11 triphalangeal thumb typical (50%) HP:0001199
12 preaxial foot polydactyly typical (50%) HP:0001841
13 sandal gap typical (50%) HP:0001852
14 abnormality of the ulna typical (50%) HP:0002997
15 radial club hand typical (50%) HP:0004059
16 renal hypoplasia/aplasia typical (50%) HP:0008678
17 short hallux typical (50%) HP:0010109
18 vesicoureteral reflux occasional (7.5%) HP:0000076
19 epicanthus occasional (7.5%) HP:0000286
20 hypertelorism occasional (7.5%) HP:0000316
21 microcornea occasional (7.5%) HP:0000482
22 ptosis occasional (7.5%) HP:0000508
23 cataract occasional (7.5%) HP:0000518
24 chorioretinal coloboma occasional (7.5%) HP:0000567
25 iris coloboma occasional (7.5%) HP:0000612
26 nystagmus occasional (7.5%) HP:0000639
27 tetralogy of fallot occasional (7.5%) HP:0001636
28 toe syndactyly occasional (7.5%) HP:0001770
29 talipes occasional (7.5%) HP:0001883
30 aganglionic megacolon occasional (7.5%) HP:0002251
31 abnormality of the humerus occasional (7.5%) HP:0003063
32 vertebral segmentation defect occasional (7.5%) HP:0003422
33 finger syndactyly occasional (7.5%) HP:0006101
34 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056

Drugs & Therapeutics for Acro-Renal-Ocular Syndrome

About this section

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

About this section

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

About this section

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

31
Kidney, Eye, Bone

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

About this section

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

35
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

About this section

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

About this section

Clinvar genetic disease variations for Acro-Renal-Ocular Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4NM_020436.3(SALL4): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
2SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenic
3SALL4SALL4, 1-BP INS, 940CinsertionPathogenic
4SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenic
5SALL4NM_020436.3(SALL4): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
6SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenic
7SALL4SALL4, 1-BP DEL, 326CdeletionPathogenic
8SALL4NM_020436.3(SALL4): c.523A> T (p.Lys175Ter)single nucleotide variantPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
9SALL4NM_020436.3(SALL4): c.1849C> T (p.Arg617Ter)single nucleotide variantPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
10SALL4SALL4, DELdeletionPathogenic
11SALL4NM_020436.3(SALL4): c.2713C> T (p.Arg905Ter)single nucleotide variantPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
12SALL4NM_020436.3(SALL4): c.2663A> G (p.His888Arg)single nucleotide variantPathogenicrs74315429GRCh37Chr 20, 50405479: 50405479

Expression for genes affiliated with Acro-Renal-Ocular Syndrome

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

Pathways for genes affiliated with Acro-Renal-Ocular Syndrome

About this section

Compounds for genes affiliated with Acro-Renal-Ocular Syndrome

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432348.7SALL4, PAX2
2nucleusGO:00056348.5TBX5, SALL4, PAX2

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

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:00032819.4TBX5, SALL4
2embryonic limb morphogenesisGO:00303269.4TBX5, SALL4
3negative regulation of transcription from RNA polymerase II promoterGO:00001229.0SALL4, PAX2
4neural tube closureGO:00018438.9SALL4, PAX2
5positive regulation of transcription, DNA-templatedGO:00458938.8TBX5, PAX2
6positive 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
1DNA bindingGO:00036778.5TBX5, SALL4, PAX2

Products for genes affiliated with Acro-Renal-Ocular Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acro-Renal-Ocular Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet