Features include always present findings: Cloudy or opaque cornea (corneal opacity), Generalized lipodystrophy, Dry skin, and Broad forehead and others; and very common findings: Short stature, Microcephaly, and Feeding difficulties. 26 total HPO annotations.

BUD13 encodes BUD13 spliceosome associated protein (619 aa). Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs Highest expression in Testis (45.4 TPM) and Uterus (34.7 TPM).

Achalasia-progeroid syndrome is associated with mutations in the BUD13 gene on chromosome 11.

BUD13 is classified as a druggable target with score 0.0.

Genetic testing for BUD13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for achalasia-progeroid syndrome has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 3 very common features, 7 common features.

No clinical trials have been registered for achalasia-progeroid syndrome.

201 publications have been identified in PubMed for achalasia-progeroid syndrome. Kisho has analyzed 79 by research type. Research spans Review / Meta-Analysis (73%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (5%).