Features include always present findings: Short stature, Low red blood cell count (anemia), Low platelet count (thrombocytopenia), and Intellectual disability; and very common findings: Microcephaly and Myelodysplasia. 20 total HPO annotations.

ADH5 encodes alcohol dehydrogenase 5 (class III), chi polypeptide (374 aa). Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione. Highest expression in Artery Aorta (249.2 TPM) and Esophagus Muscularis (244.8 TPM).

AMED syndrome, digenic is associated with mutations in the ADH5 gene on chromosome 4.

The ADH5 protein participates in ADH5 oxidises S-HMGSH to S-FGSH pathway.

ADH5 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 7.5.

5 pathogenic variants reported in ADH5 in ClinVar.

Genetic testing for ADH5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for AMED syndrome, digenic has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 very common features, 5 common features.

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

No clinical trials have been registered for AMED syndrome, digenic.

110 publications have been identified in PubMed for AMED syndrome, digenic. Research spans Review / Meta-Analysis (36%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (17%).