AMED syndrome

Term ID

DOID:0080952

Synonyms

• AMEDS

Definition

A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. https://pubmed.ncbi.nlm.nih.gov/33355142/

References

• MIM:619151

Ontology

Human Disease   ( DOID:0080952 )