MCID: ACR059
MIFTS: 28

Acro-Renal-Ocular Syndrome malady

Categories: Genetic diseases, Fetal diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Acro-Renal-Ocular Syndrome

About this section
Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Acro-Renal-Ocular Syndrome:

Name: Acro-Renal-Ocular Syndrome 22 51

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 959
ICD10 via Orphanet28 Q87.8

Summaries for Acro-Renal-Ocular Syndrome

About this section
MalaCards based summary: Acro-Renal-Ocular Syndrome is related to duane-radial ray syndrome and hepatitis, 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), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, bone and lung, and related mouse phenotypes are embryo and cardiovascular system.

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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1duane-radial ray syndrome10.7
2hepatitis10.4
3hereditary angioedema10.4
4angioedema10.4
5melanoma10.4
6long qt syndrome10.4
7congenital hepatic fibrosis10.4
8hypereosinophilic syndrome10.4
9joubert syndrome 139.8SALL4, TBX5
10ivic syndrome9.8SALL4, TBX5
11breast pericanalicular fibroadenoma9.4PAX2, SALL4
12acta1-related congenital fiber-type disproportion9.3PAX2, 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

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 SALL4

Anatomical Context for Acro-Renal-Ocular Syndrome

About this section

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

33
Kidney, Bone, Lung, Heart

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6PAX2, SALL4, TBX5
2MP:00053858.5PAX2, SALL4, TBX5

Publications for Acro-Renal-Ocular Syndrome

About this section

Articles related to Acro-Renal-Ocular Syndrome:

idTitleAuthorsYear
1
VEGF-A Expression Correlates with TP53 Mutations in Non-Small Cell Lung Cancer: Implications for Antiangiogenesis Therapy. (25672981)
2015
2
Systematic use of transradial PCI in patients with ST-segment elevation myocardial infarction: a call to &quot;arms&quot;. (24262613)
2013
3
A novel CYP2A6 allele (CYP2A6*35) resulting in an amino-acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo. (19365400)
2009
4
Silica Induces Plasminogen Activator Inhibitor-1 Expression through a MAPKs/AP-1-Dependent Mechanism in Human Lung Epithelial Cells. (20020854)
2008
5
Critical role of PI3-kinase/Akt activation in the PARP inhibitor induced heart function recovery during ischemia-reperfusion. (16337154)
2006
6
Role of cholesterol 7alpha-hydroxylase (CYP7A1) in nutrigenetics and pharmacogenetics of cholesterol lowering. (16669607)
2006
7
Progress report on hair keratin research. (18498508)
2002
8
Phosphorylation of HMG-I by protein kinase C attenuates its binding affinity to the promoter regions of protein kinase C gamma and neurogranin/RC3 genes. (10617144)
2000
9
Type V collagen is an epithelial cell cycle inhibitor that is induced by and mimics the effects of transforming growth factor beta1. (9607563)
1998
10
Endothelium-derived relaxing factors and the human pulmonary circulation. (2117136)
1990

Variations for Acro-Renal-Ocular Syndrome

About this section

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

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:00032819.8SALL4, TBX5
2neural tube closureGO:00018439.5PAX2, SALL4
3transcription from RNA polymerase II promoterGO:00063669.1PAX2, TBX5
4multicellular organism developmentGO:00072759.0PAX2, SALL4
5positive regulation of transcription from RNA polymerase II promoterGO:00459448.2PAX2, SALL4, TBX5

Sources for Acro-Renal-Ocular Syndrome

About this section
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