Details of Disease | DrugMAP

General Information of Disease (ID: DIS9KV6Z)

Disease Name	Atypical glycine encephalopathy
Synonyms	Glycine encephalopathy with normal serum Glycine; GLYCINE encephalopathy with normal serum GLYCINE; atypical non-ketotic hyperglycinemia; atypical NKA
Definition	Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
Disease Hierarchy	DISI2XE5: Glycine encephalopathy DIS9KV6Z: Atypical glycine encephalopathy
Disease Identifiers	MONDO ID MONDO_0015010 UMLS CUI C4310943 OMIM ID 617301 MedGen ID 934910 Orphanet ID 289863

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC6A9	TTHJTF7	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A9	DT2CFQ5	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMT	OTQYEWZQ	Supportive	Unknown	[2]
GCSH	OTNC1OKA	Supportive	Unknown	[2]
GLDC	OTVVDNW0	Supportive	Unknown	[2]
------------------------------------------------------------------------------------

References

1	Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016 Nov;135(11):1263-1268.
2	Nonketotic Hyperglycinemia. 2002 Nov 14 [updated 2019 May 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.