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AMED syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease digenic disease syndrome
External Links
- Disease Ontology
- DOID:0080952
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000252 | Microcephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000506 | Telecanthus |
| HP:0000729 | Autistic behavior |
| HP:0000835 | Adrenal hypoplasia |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0001249 | Intellectual disability |
| HP:0001508 | Failure to thrive |
| HP:0001873 | Thrombocytopenia |
