MCID: INF126
MIFTS: 19

Infantile Glycine Encephalopathy

Categories: Neuronal diseases, Metabolic diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Infantile Glycine Encephalopathy

MalaCards integrated aliases for Infantile Glycine Encephalopathy:

Name: Infantile Glycine Encephalopathy 59
Infantile Non-Ketotic Hyperglycinemia 59
Infantile Nkh 59

Characteristics:

Orphanet epidemiological data:

59
infantile glycine encephalopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA289860
ICD10 via Orphanet 34 E72.5

Summaries for Infantile Glycine Encephalopathy

MalaCards based summary : Infantile Glycine Encephalopathy, also known as infantile non-ketotic hyperglycinemia, is related to glycine encephalopathy and encephalopathy. An important gene associated with Infantile Glycine Encephalopathy is SLC6A9 (Solute Carrier Family 6 Member 9), and among its related pathways/superpathways are Carbon metabolism and Glycine, serine and threonine metabolism.

Related Diseases for Infantile Glycine Encephalopathy

Diseases in the Glycine Encephalopathy family:

Infantile Glycine Encephalopathy

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

# Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 26.6 AMT GCSH GLDC SLC6A9
2 encephalopathy 9.9
3 autosomal recessive disease 9.2 AMT GLDC
4 neonatal glycine encephalopathy 8.6 AMT GCSH GLDC
5 glycine encephalopathy with normal serum glycine 8.1 AMT GCSH GLDC SLC6A9

Graphical network of the top 20 diseases related to Infantile Glycine Encephalopathy:



Diseases related to Infantile Glycine Encephalopathy

Symptoms & Phenotypes for Infantile Glycine Encephalopathy

Drugs & Therapeutics for Infantile Glycine Encephalopathy

Search Clinical Trials , NIH Clinical Center for Infantile Glycine Encephalopathy

Genetic Tests for Infantile Glycine Encephalopathy

Anatomical Context for Infantile Glycine Encephalopathy

Publications for Infantile Glycine Encephalopathy

Articles related to Infantile Glycine Encephalopathy:

# Title Authors Year
1
Early treatment of severe infantile glycine encephalopathy (nonketotic hyperglycinemia) with strychnine and sodium benzoate. ( 531053 )
1979

Variations for Infantile Glycine Encephalopathy

Expression for Infantile Glycine Encephalopathy

Search GEO for disease gene expression data for Infantile Glycine Encephalopathy.

Pathways for Infantile Glycine Encephalopathy

GO Terms for Infantile Glycine Encephalopathy

Cellular components related to Infantile Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.33 AMT GCSH GLDC
2 mitochondrial matrix GO:0005759 9.13 AMT GCSH GLDC
3 glycine cleavage complex GO:0005960 8.62 GCSH GLDC

Biological processes related to Infantile Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.16 AMT GCSH
2 glycine decarboxylation via glycine cleavage system GO:0019464 9.13 AMT GCSH GLDC
3 glycine catabolic process GO:0006546 8.8 AMT GCSH GLDC

Molecular functions related to Infantile Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminomethyltransferase activity GO:0004047 8.62 AMT GCSH

Sources for Infantile Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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