KDM1A encodes lysine demethylase 1A (852 aa). Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Highest expression in Testis (194.0 TPM) and Cells EBV-transformed lymphocytes (96.4 TPM).

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is associated with mutations in the KDM1A gene on chromosome 1.

The KDM1A protein participates in KDM1A demethylates H3 on MYC and BCL genes in response to estrogen pathway.

KDM1A is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Transcription Factor Complex categories) with score 20.9.

Genetic testing for KDM1A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features, 19 common features.

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

No clinical trials have been registered for palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome.

38 publications have been identified in PubMed for palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome. Research spans Case Report / Case Series (66%), Epidemiology / Natural History (13%), and Review / Meta-Analysis (11%).

Recent Publications

• Aris KL (2026). [PMID: 41739502](https://pubmed.ncbi.nlm.nih.gov/41739502/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Case Report / Case Series]

• Acharya A (2026). [PMID: 41964217](https://pubmed.ncbi.nlm.nih.gov/41964217/). *HGG Adv*. [Case Report / Case Series]

• Liu X (2026). [PMID: 41621842](https://pubmed.ncbi.nlm.nih.gov/41621842/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Epidemiology / Natural History]

• Delay A (2026). [PMID: 41962660](https://pubmed.ncbi.nlm.nih.gov/41962660/). *J Stomatol Oral Maxillofac Surg*. [Review / Meta-Analysis]

• Çetinkaya D (2026). [PMID: 41703727](https://pubmed.ncbi.nlm.nih.gov/41703727/). *Am J Med Genet A*. [Case Report / Case Series]

• Boynuyogun E (2026). [PMID: 39828923](https://pubmed.ncbi.nlm.nih.gov/39828923/). *Cleft Palate Craniofac J*. [Review / Meta-Analysis]

• Teplitzky TB (2026). [PMID: 40432407](https://pubmed.ncbi.nlm.nih.gov/40432407/). *Cleft Palate Craniofac J*. [Case Report / Case Series]

• Zechi-Ceide RM (2026). [PMID: 41952423](https://pubmed.ncbi.nlm.nih.gov/41952423/). *Am J Med Genet A*. [Case Report / Case Series]

• Yang Q (2026). [PMID: 41560868](https://pubmed.ncbi.nlm.nih.gov/41560868/). *Experimental and therapeutic medicine*. [Epidemiology / Natural History]

• Kannan J (2026). [PMID: 41932714](https://pubmed.ncbi.nlm.nih.gov/41932714/). *BMJ Case Rep*. [Case Report / Case Series]