ASPH encodes aspartate beta-hydroxylase (758 aa). Specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins Highest expression in Cells Cultured fibroblasts (90.7 TPM) and Adipose Subcutaneous (52.0 TPM).

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is associated with mutations in the ASPH gene on chromosome 8.

The ASPH protein participates in ASPH:Fe2+ hydroxylates an aspartate residue of F9 pathway.

ASPH is classified as a druggable target (Enzyme and Transporter categories) with score 0.8.

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is included in newborn screening programs (Dihydropteridine Reductase Deficiency) in 15 states.

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

Phenotype severity distribution: 11 always present features, 5 very common features, 12 common features.

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

No clinical trials have been registered for facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.

11 publications have been identified in PubMed for facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome. Research spans Review / Meta-Analysis (27%), Case Report / Case Series (27%), and Basic Science / Preclinical (27%).

Recent Publications

• Alhemidan A (2026). [PMID: 41994245](https://pubmed.ncbi.nlm.nih.gov/41994245/). *Saudi J Ophthalmol*. [Case Report / Case Series]

• Hou CX (2026). [PMID: 41354343](https://pubmed.ncbi.nlm.nih.gov/41354343/). *J Biol Chem*. [Basic Science / Preclinical]

• Khouri P (2026). [PMID: 42203680](https://pubmed.ncbi.nlm.nih.gov/42203680/). *Ophthalmic Genet*. [Case Report / Case Series]

• Velamala IP (2026). [PMID: 41871893](https://pubmed.ncbi.nlm.nih.gov/41871893/). *Ophthalmic Genet*. [Review / Meta-Analysis]

• Guzman JPMD (2025). [PMID: 39674426](https://pubmed.ncbi.nlm.nih.gov/39674426/). *Fish Shellfish Immunol*. [Basic Science / Preclinical]

• McClatchey MA (2025). [PMID: 40657977](https://pubmed.ncbi.nlm.nih.gov/40657977/). *Clin Dysmorphol*. [Review / Meta-Analysis]

• de Castro D (2025). [PMID: 39378150](https://pubmed.ncbi.nlm.nih.gov/39378150/). *Eur Heart J*. [Other]

• Ibarra-Ramírez M (2024). [PMID: 39336711](https://pubmed.ncbi.nlm.nih.gov/39336711/). *Genes (Basel)*. [Review / Meta-Analysis]

• Beniwal A (2024). [PMID: 38905471](https://pubmed.ncbi.nlm.nih.gov/38905471/). *Indian J Ophthalmol*. [Case Report / Case Series]

• Krishnan A (2024). [PMID: 38839574](https://pubmed.ncbi.nlm.nih.gov/38839574/). *Chemphyschem*. [Basic Science / Preclinical]