Features include always present findings: Poor wound healing, Chronic fatigue, Varicose veins, and Pes planus and others; and common findings: Low muscle tone (hypotonia), Hyperpigmentation of the skin, Ventral hernia, and Bilateral ptosis and others. 60 total HPO annotations.

AEBP1 encodes AE binding protein 1 (1,158 aa). As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellular matrix Highest expression in Artery Aorta (2,315 TPM) and Artery Coronary (1,503 TPM).

Ehlers-Danlos syndrome, classic-like, 2 is associated with mutations in the AEBP1 gene on chromosome 7.

AEBP1 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Protease categories) with score 4.4.

Genetic testing for AEBP1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 32 always present features, 19 common features.

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

No clinical trials have been registered for Ehlers-Danlos syndrome, classic-like, 2.

2 publications have been identified in PubMed for Ehlers-Danlos syndrome, classic-like, 2. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Feng S (2026). [PMID: 41231548](https://pubmed.ncbi.nlm.nih.gov/41231548/). *JCI insight*. [Basic Science / Preclinical]

• Nguyen K (2025). [PMID: 40276416](https://pubmed.ncbi.nlm.nih.gov/40276416/). *Cureus*. [Case Report / Case Series]