AIFM1 encodes apoptosis inducing factor mitochondria associated 1 (613 aa). Functions both as NADH oxidoreductase and as regulator of apoptosis. Highest expression in Adrenal Gland (62.8 TPM) and Cells EBV-transformed lymphocytes (58.3 TPM).

Spondyloepimetaphyseal dysplasia, Bieganski type is associated with mutations in the AIFM1 gene on chromosome X.

AIFM1 is classified as a druggable target (Druggable Genome category) with score 5.2.

Genetic testing for AIFM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spondyloepimetaphyseal dysplasia, Bieganski type has been reported in the published literature.

Phenotype severity distribution: 15 always present features, 1 common feature.

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

No clinical trials have been registered for spondyloepimetaphyseal dysplasia, Bieganski type.

234 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia, Bieganski type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (12%), and Case Report / Case Series (8%).

Recent Publications

• Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Epidemiology / Natural History]

• Puac-Polanco P (2026). [PMID: 42399018](https://pubmed.ncbi.nlm.nih.gov/42399018/). *Neuroimaging Clin N Am*. [Review / Meta-Analysis]

• Wu D (2026). [PMID: 41072814](https://pubmed.ncbi.nlm.nih.gov/41072814/). *Surv Ophthalmol*. [Review / Meta-Analysis]

• Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]

• Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]

• Di Girolamo D (2026). [PMID: 41445194](https://pubmed.ncbi.nlm.nih.gov/41445194/). *Mol Ther*. [Basic Science / Preclinical]

• Yadlapati S (2026). [PMID: 35201722](https://pubmed.ncbi.nlm.nih.gov/35201722/). *Unknown Journal*. [Basic Science / Preclinical]

• Creignou M (2026). [PMID: 41651099](https://pubmed.ncbi.nlm.nih.gov/41651099/). *Semin Cancer Biol*. [Review / Meta-Analysis]

• Volkert D (2026). [PMID: 42045693](https://pubmed.ncbi.nlm.nih.gov/42045693/). *Z Gerontol Geriatr*. [Review / Meta-Analysis]

• Wang Y (2026). [PMID: 41873429](https://pubmed.ncbi.nlm.nih.gov/41873429/). *Hum Reprod Open*. [Case Report / Case Series]