SMAD3 SMAD family member 3
Gene info
Synonyms
JV15-2, HsT17436
Previous symbol
MADH3
External ID
HGNC: 6769
Entrez Gene: 4088
Ensembl: ENSG00000166949
UCSC: uc002aqj.4
OMIM:
603109
UniProtKB:
P84022
Disease info
Disease
CHD Phenotype
- Ventricular septal defect
- Patent ductus arteriosus
- Pulmonic stenosis
- Hypoplastic left heart syndrome
Extra Cardiac Phenotype
Hypertelorism , Abnormal uvula , High-arched palate, Cleft palate, Dental malocclusion , Pectus deformity , Umbilical hernia , Inguinal hernia, Bowel prolapse , Uterine prolapse , Bladder prolapse, Osteoporosis , Intervertebral disc degeneration , Facet joint osteoarthritis , Uncovertebral (C3-C7) joint osteoarthritis , Dural ectasia , Scoliosis , Spondylysis , Spondylolisthesis, Hip osteoarthritis , Protrusio acetabuli, Long bone overgrowth (dolichostenomelia) ,Osteochondritis dissecans , Knee osteoarthritis , Meniscal lesions , Wrist osteoarthritis , Ankle osteoarthritis, Joint laxity, Hand osteoarthritis , Arachnodactyly , Camptodactyly, Foot osteoarthritis , Pes planus, Skin velvety, Striae , Easy bruisability , Atrophic scarring
Incomplete penetrance
Yes
Variable expressivity
Yes
Animal model
Mouse study
MGI: No CHD in null mice
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for SMAD3: BED file
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Selected References
- Li, F.-F., Zhou, J., Zhao, D.-D., Yan, P., Li, X., Han, Y., … Liu, S.-L. (2015). Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases. PLOS ONE, 10(6), e0131542. DOI:10.1371/journal.pone.0131542 PMID:26110764
- Van de Laar, I. M. B. H., Oldenburg, R. A., Pals, G., Roos-Hesselink, J. W., de Graaf, B. M., Verhagen, J. M. A., … Bertoli-Avella, A. M. (2011). Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nature Genetics, 43(2), 121–126. DOI:10.1038/ng.744
- Fitzgerald, K. K., Bhat, A. M., Conard, K., Hyland, J., & Pizarro, C. (2014). NovelSMAD3Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. Case Reports in Genetics, 2014, 1–4. DOI:10.1155/2014/591516