MCID: GLY105
MIFTS: 7

Glyt1 Encephalopathy

Aliases & Classifications for Glyt1 Encephalopathy

MalaCards integrated aliases for Glyt1 Encephalopathy:

Name: Glyt1 Encephalopathy 24

Summaries for Glyt1 Encephalopathy

MalaCards based summary : Glyt1 Encephalopathy is related to glycine encephalopathy and glycine encephalopathy with normal serum glycine. An important gene associated with Glyt1 Encephalopathy is SLC6A9 (Solute Carrier Family 6 Member 9).

GeneReviews: NBK465013

Related Diseases for Glyt1 Encephalopathy

Diseases related to Glyt1 Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 10.1
2 glycine encephalopathy with normal serum glycine 10.1
3 alkuraya-kucinskas syndrome 10.1
4 respiratory failure 10.1
5 encephalopathy 10.1
6 hypotonia 10.1
7 congenital amyoplasia 10.1

Graphical network of the top 20 diseases related to Glyt1 Encephalopathy:



Diseases related to Glyt1 Encephalopathy

Symptoms & Phenotypes for Glyt1 Encephalopathy

Drugs & Therapeutics for Glyt1 Encephalopathy

Search Clinical Trials , NIH Clinical Center for Glyt1 Encephalopathy

Genetic Tests for Glyt1 Encephalopathy

Anatomical Context for Glyt1 Encephalopathy

Publications for Glyt1 Encephalopathy

Articles related to Glyt1 Encephalopathy:

# Title Authors PMID Year
1
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. 4
28363510 2017
2
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 4
27773429 2016
3
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 4
27481395 2016
4
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. 4
24334290 2014
5
A critical role for glycine transporters in hyperexcitability disorders. 4
18946534 2008
6
Startle syndromes. 4
16713923 2006
7
Glycine transporters: essential regulators of neurotransmission. 4
15950877 2005
8
Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy. 4
15077252 2004
9
GLYT1 Encephalopathy 38
29190063 2017

Variations for Glyt1 Encephalopathy

Expression for Glyt1 Encephalopathy

Search GEO for disease gene expression data for Glyt1 Encephalopathy.

Pathways for Glyt1 Encephalopathy

GO Terms for Glyt1 Encephalopathy

Sources for Glyt1 Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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