Features include very common findings: Failure to thrive; and common findings: Short stature, Ventricular septal defect, Chronic constipation, and Aortic root aneurysm and others. 45 total HPO annotations.

ABL1 encodes ABL proto-oncogene 1, non-receptor tyrosine kinase (1,130 aa). Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Highest expression in Colon Sigmoid (166.1 TPM) and Uterus (138.1 TPM).

Congenital heart defects and skeletal malformations syndrome is associated with mutations in the ABL1 gene on chromosome 9.

ABL1 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, Tumor Suppressor, and Tyrosine Kinase categories) with score 1.3.

22 pathogenic variants reported in ABL1 in ClinVar.

Genetic testing for ABL1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature, 21 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for congenital heart defects and skeletal malformations syndrome.

4 publications have been identified in PubMed for congenital heart defects and skeletal malformations syndrome. Research spans Case Report / Case Series (75%) and Other (25%).

Recent Publications

• Kolvenbach CM (2025). [PMID: 40843169](https://pubmed.ncbi.nlm.nih.gov/40843169/). *Front Cell Dev Biol*. [Other]

• Chen TY (2025). [PMID: 39887622](https://pubmed.ncbi.nlm.nih.gov/39887622/). *Am J Med Genet A*. [Case Report / Case Series]

• Arauco-Lázaro D (2025). [PMID: 41416177](https://pubmed.ncbi.nlm.nih.gov/41416177/). *Clin Med Insights Cardiol*. [Case Report / Case Series]

• AlAbdi L (2024). [PMID: 38743093](https://pubmed.ncbi.nlm.nih.gov/38743093/). *Hum Genet*. [Case Report / Case Series]