Details of Disease | DrugMAP

General Information of Disease (ID: DISCZC4L)

Disease Name	AMED syndrome, digenic
Synonyms	AMEDS; AMED syndrome, digenic; bone marrow failure syndrome 7, digenic; aplastic anemia-intellectual disability-dwarfism syndrome; AMeD syndrome
Disease Hierarchy	DISVUY1J: Bone marrow failure syndrome DISCZC4L: AMED syndrome, digenic
Disease Identifiers	MONDO ID MONDO_0030894 UMLS CUI C5436906 OMIM ID 619151 MedGen ID 1754257 Orphanet ID 611216

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH5	DEIOH6A	Limited	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADH5	OTSO67MI	Limited	Unknown	[1]
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References

1	Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec.