Details of Disease | DrugMAP

General Information of Disease (ID: DIS4PQYQ)

Disease Name	Amish lethal microcephaly
Synonyms	microcephaly, Amish type; MCPHA; thiamine metabolism dysfunction syndrome 3 (microcephaly type); Amish lethal microcephaly
Definition	Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Disease Hierarchy	DIS2OFSP: Thiamine-responsive dysfunction syndrome DIS2GRD8: Microcephaly DISYOKTG: Mendelian neurodevelopmental disorder DIS4PQYQ: Amish lethal microcephaly
Disease Identifiers	MONDO ID MONDO_0011790 MESH ID C538247 UMLS CUI C1846648 OMIM ID 607196 MedGen ID 375938 Orphanet ID 99742 SNOMED CT ID 702437000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A19	DTT82QK	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A19	OT157TY3	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.