Vacterl Association, X-linked, with or without Hydrocephalus (ZIC3)
| Dred_ID | RD00014 |
| OMIM ID | 314390 |
| Disease name | Vacterl Association, X-linked, with or without Hydrocephalus |
| Alternative names | Vacterl-h, X-linked Vacterlx |
| Category | Genetic diseases |
| Phenotype | OMIM: VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984). |
| Miscellaneouse | OMIM: variable phenotype |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | X-linked recessive x-linked recessive |
| Anticipation | N/A |
| Evidence | Weak |
| Gene symbol | ZIC3 |
| Alias symbols | HTX; HTX1; ZNF203; VACTERLX |
| Gene name | Zic family member 3 |
| Gene map locus | Xq26.2; chrX:137,566,127-137,577,691(+) |
| Ensembl Gene ID | ENSG00000156925 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008] |
| Repeat unit | GCC |
| Normal repeat copies | 10 |
| Pathogenic repeat copies | ≥12 |
| Gene | ZIC3 |
| Repeat location | CDS |
| Chromosome locus | chrX:137566827-137566859 (+) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | Protein |
| Possible toxicity | VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H |
| Pathway annotation | Reactome, KEGG |
| PMID | 20452998 |
| Authors | Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B |
| Title | Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? |
| Journal | J Med Genet. 47(5):351-5 |
| Year | 2010 |