Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005528 | Bone marrow hypocellularity |
| HP:0000252 | Microcephaly |
| HP:0004808 | Acute myeloid leukemia |
| HP:0001873 | Thrombocytopenia |
| HP:0001882 | Leukopenia |
| HP:0000835 | Adrenal hypoplasia |
| HP:0010984 | Digenic inheritance |
| HP:0000506 | Telecanthus |
| HP:0002863 | Myelodysplasia |
