Details of Disease | DrugMAP

General Information of Disease (ID: DISLOECI)

Disease Name	Infantile glycine encephalopathy
Synonyms	infantile NKH; glycine encephalopathy of infancy; infantile non-ketotic hyperglycinemia; infantile onset glycine encephalopathy
Definition	Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.
Disease Hierarchy	DISI2XE5: Glycine encephalopathy DISLOECI: Infantile glycine encephalopathy
Disease Identifiers	MONDO ID MONDO_0017354 UMLS CUI C5548209 MedGen ID 1781124 Orphanet ID 289860 SNOMED CT ID 1156826003

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
SLC6A9	DT2CFQ5	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMT	OTQYEWZQ	Supportive	Autosomal recessive	[2]
GCSH	OTNC1OKA	Supportive	Autosomal recessive	[2]
GLDC	OTVVDNW0	Supportive	Autosomal recessive	[2]
SLC6A9	OTHRUON2	Supportive	Autosomal recessive	[1]
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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.