ZFIN Human Disease: AMED syndrome

OBO ID: DOID:0080952

Term Name:	AMED syndrome		Search Ontology:
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:	OMIM:619151
Ontology:	Human Disease ( DOID:0080952 )

Relationships

is a type of:	autosomal recessive disease digenic disease syndrome autosomal recessive disease digenic disease syndrome Show first 5 Terms

OTHER AMED syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ADH5	adh5	AMED syndrome, digenic	619151

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None