MCID: GLY105
MIFTS: 7

Glyt1 Encephalopathy

Aliases & Classifications for Glyt1 Encephalopathy

MalaCards integrated aliases for Glyt1 Encephalopathy:

Name: Glyt1 Encephalopathy 25

Summaries for Glyt1 Encephalopathy

MalaCards based summary : Glyt1 Encephalopathy is related to encephalopathy and hypotonia. 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 encephalopathy 10.2
2 hypotonia 10.2
3 congenital amyoplasia 10.2
4 glycine encephalopathy 10.1
5 respiratory failure 10.1
6 hyperekplexia 10.0
7 neuromuscular disease 10.0

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:

(show all 11)
# Title Authors PMID Year
1
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. 25
28363510 2017
2
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 25
27773429 2016
3
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 25
27481395 2016
4
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. 25
24334290 2014
5
A critical role for glycine transporters in hyperexcitability disorders. 25
18946534 2008
6
Startle syndromes. 25
16713923 2006
7
Glycine transporters: essential regulators of neurotransmission. 25
15950877 2005
8
Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy. 25
15077252 2004
9
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms. 61
33269555 2020
10
GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations. 61
32712301 2020
11
GLYT1 Encephalopathy 61
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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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