MCID: ACR059
MIFTS: 30

Acro-Renal-Ocular Syndrome malady

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

Aliases & Classifications for Acro-Renal-Ocular Syndrome

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Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Acro-Renal-Ocular Syndrome:

Name: Acro-Renal-Ocular Syndrome 22 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
acro-renal-ocular syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet51 959
ICD10 via Orphanet28 Q87.8

Summaries for Acro-Renal-Ocular Syndrome

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MalaCards based summary: Acro-Renal-Ocular Syndrome is related to holt-oram syndrome and duane-radial ray syndrome, and has symptoms including radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray, thumb hypoplasia/aplasia/absence and ectopic/horseshoe/fused kidneys. An important gene associated with Acro-Renal-Ocular Syndrome is SALL4 (Spalt-Like Transcription Factor 4). Affiliated tissues include kidney, bone and eye, and related mouse phenotypes are cardiovascular system and embryogenesis.

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
1holt-oram syndrome30.1SALL4, TBX5
2duane-radial ray syndrome10.5
3interstitial nephritis10.3
4pyelonephritis10.3
5ivic syndrome9.8SALL4, TBX5
6papillary follicular thyroid adenocarcinoma9.8PAX2, SALL4
7mccallum macadam johnston syndrome9.8PAX2, TBX5
8acta1-related congenital fiber-type disproportion9.6PAX2, 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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Symptoms:

 51 (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

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 Syndrome22 SALL4

Anatomical Context for Acro-Renal-Ocular Syndrome

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

33
Kidney, Bone, Eye

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5PAX2, SALL4, TBX5
2MP:00053808.2PAX2, 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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Clinvar genetic disease variations for Acro-Renal-Ocular Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL4NM_020436.3(SALL4): c.496dupC (p.Gln166Profs)duplicationPathogenicrs797044509GRCh38Chr 20, 51791987: 51791987
2SALL4NM_020436.3(SALL4): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs74315424GRCh37Chr 20, 50407068: 50407068
3SALL4SALL4, 1-BP DEL, 1053GdeletionPathogenic
4SALL4SALL4, 1-BP INS, 940CinsertionPathogenic
5SALL4SALL4, 1-BP DEL, 1904TdeletionPathogenic
6SALL4NM_020436.3(SALL4): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs74315425GRCh37Chr 20, 50405549: 50405549
7SALL4SALL4, 1-BP DEL, 2425GdeletionPathogenic
8SALL4SALL4, 1-BP DEL, 326CdeletionPathogenic
9SALL4NM_020436.3(SALL4): c.523A> T (p.Lys175Ter)single nucleotide variantPathogenicrs74315426GRCh37Chr 20, 50408499: 50408499
10SALL4NM_020436.3(SALL4): c.1849C> T (p.Arg617Ter)single nucleotide variantPathogenicrs74315427GRCh37Chr 20, 50407173: 50407173
11SALL4SALL4, DELdeletionPathogenic
12SALL4NM_020436.3(SALL4): c.2713C> T (p.Arg905Ter)single nucleotide variantPathogenicrs74315428GRCh37Chr 20, 50405429: 50405429
13SALL4NM_020436.3(SALL4): c.2663A> G (p.His888Arg)single nucleotide variantPathogenicrs74315429GRCh37Chr 20, 50405479: 50405479

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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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:00432349.3PAX2, SALL4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1neural tube closureGO:00018439.7PAX2, SALL4
2ventricular septum developmentGO:00032819.4SALL4, TBX5
3embryonic limb morphogenesisGO:00303269.4SALL4, TBX5
4heart developmentGO:00075079.1SALL4, TBX5
5positive regulation of transcription from RNA polymerase II promoterGO:00459448.5PAX2, SALL4, TBX5
6regulation of transcription, DNA-templatedGO:00063558.4PAX2, SALL4, TBX5
7transcription from RNA polymerase II promoterGO:00063668.2PAX2, SALL4, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.7PAX2, SALL4
2transcription factor bindingGO:00081349.1PAX2, TBX5
3DNA bindingGO:00036778.5PAX2, SALL4, TBX5

Sources for Acro-Renal-Ocular Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet