MCID: GLY010
MIFTS: 53

Glycine Encephalopathy

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

Aliases & Classifications for Glycine Encephalopathy

MalaCards integrated aliases for Glycine Encephalopathy:

Name: Glycine Encephalopathy 54 12 72 72 23 50 24 25 56 71 13 14
Non-Ketotic Hyperglycinemia 12 50 24 25 56 71 29
Nonketotic Hyperglycinemia 12 72 23 50 24 25 69
Nkh 23 24 25 71
Hyperglycinemia, Nonketotic 25 42
Hyperglycinemia Nonketotic 50 52
Glycine Synthase Deficiency 50
Non Ketotic Hyperglycinemia 24
Nka 56
Gce 71

Characteristics:

Orphanet epidemiological data:

56
glycine encephalopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy common for patients with the classic neonatal form
patients with atypical form have milder disease, with onset in the first months of life and increased survival


HPO:

32
glycine encephalopathy:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycine Encephalopathy

NIH Rare Diseases : 50 glycine encephalopathy is an inherited condition characterized by abnormally high levels of an amino acid called glycine. glycine acts as a chemical messenger that transmits signals in the brain. glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body, thus allowing excess glycine to build up in tissues and organs, particularly the brain. symptoms typically appear during infancy or early childhood and include a lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, breathing problems, seizures, and intellectual disability. it is caused by mutations in the amt, gldc or gcsh genes and is inherited in an autosomal recessive manner. last updated: 11/10/2011

MalaCards based summary : Glycine Encephalopathy, also known as non-ketotic hyperglycinemia, is related to glycine encephalopathy with normal serum glycine and neonatal glycine encephalopathy, and has symptoms including seizures, lethargy and hypoplasia of the corpus callosum. An important gene associated with Glycine Encephalopathy is AMT (Aminomethyltransferase), and among its related pathways/superpathways are Viral mRNA Translation and Carbon metabolism. The drugs Dextromethorphan and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related phenotype is Decreased shRNA abundance.

UniProtKB/Swiss-Prot : 71 Non-ketotic hyperglycinemia: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.

Genetics Home Reference : 25 Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems.

Disease Ontology : 12 An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.

Wikipedia : 72 Glycine encephalopathy (also known as non-ketotic hyperglycinemia or NKH) is a rare autosomal recessive... more...

Description from OMIM: 605899
GeneReviews: NBK1357

Related Diseases for Glycine Encephalopathy

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



Diseases related to Glycine Encephalopathy

Symptoms & Phenotypes for Glycine Encephalopathy

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
mental retardation
seizures
lethargy
absent corpus callosum (variable)
more
Laboratory- Abnormalities:
hyperglycinuria
hyperglycinemia
hepatic glycine cleavage defect
elevated csf glycine
elevated csf/plasma glycine ratio

Neurologic- Behavioral Psychiatric Manifestations:
irritability
hyperactivity
impulsivity
aggressiveness
restlessness


Clinical features from OMIM:

605899

Human phenotypes related to Glycine Encephalopathy:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 lethargy 56 32 frequent (33%) Frequent (79-30%) HP:0001254
3 hypoplasia of the corpus callosum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002079
4 poor suck 56 32 frequent (33%) Frequent (79-30%) HP:0002033
5 hyperglycinemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002154
6 breathing dysregulation 56 32 frequent (33%) Frequent (79-30%) HP:0005957
7 central hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011398
8 respiratory acidosis 56 32 frequent (33%) Frequent (79-30%) HP:0005972
9 recurrent singultus 56 32 hallmark (90%) Very frequent (99-80%) HP:0100247
10 generalized myoclonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002123
11 eeg with burst suppression 56 32 hallmark (90%) Very frequent (99-80%) HP:0010851
12 abnormal metabolic brain imaging by mrs 56 32 hallmark (90%) Very frequent (99-80%) HP:0012705
13 myoclonus 32 HP:0001336
14 hyperreflexia 32 HP:0001347
15 irritability 32 HP:0000737
16 encephalopathy 32 HP:0001298
17 intellectual disability 32 HP:0001249
18 hyperactivity 32 HP:0000752
19 aggressive behavior 32 HP:0000718
20 agenesis of corpus callosum 32 HP:0001274
21 muscular hypotonia 32 HP:0001252
22 hyperglycinuria 32 HP:0003108
23 impulsivity 32 HP:0100710
24 restlessness 32 HP:0000711
25 eeg abnormality 56 Very frequent (99-80%)

UMLS symptoms related to Glycine Encephalopathy:


lethargy, myoclonus, seizures, restlessness

GenomeRNAi Phenotypes related to Glycine Encephalopathy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 GLRX5 OCA2 SUOX AMT

Drugs & Therapeutics for Glycine Encephalopathy

Drugs for Glycine Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
2
Guaifenesin Approved, Vet_approved Phase 2 93-14-1 3516
3 Antitussive Agents Phase 2
4 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
5 Excitatory Amino Acid Antagonists Phase 2
6 Excitatory Amino Acids Phase 2
7 Neurotransmitter Agents Phase 2
8 Respiratory System Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
2 Plasma Free Amino Acids in Patients With Hepatic Encephalopathy Not yet recruiting NCT03306498 Aminoleban (8% amino acids infusion)

Search NIH Clinical Center for Glycine Encephalopathy

Cochrane evidence based reviews: hyperglycinemia, nonketotic

Genetic Tests for Glycine Encephalopathy

Genetic tests related to Glycine Encephalopathy:

id Genetic test Affiliating Genes
1 Non-Ketotic Hyperglycinemia 29
2 Glycine Encephalopathy 24

Anatomical Context for Glycine Encephalopathy

MalaCards organs/tissues related to Glycine Encephalopathy:

39
Brain, Testes

Publications for Glycine Encephalopathy

Articles related to Glycine Encephalopathy:

(show all 38)
id Title Authors Year
1
Avoid mitochondrion-toxic antiepileptic drugs in glycine encephalopathy. ( 28882326 )
2017
2
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene. ( 28325525 )
2017
3
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( 27773429 )
2016
4
A rare case of glycine encephalopathy unveiled by valproate therapy. ( 26167219 )
2015
5
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. ( 26108146 )
2015
6
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy. ( 25231368 )
2014
7
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. ( 24407464 )
2014
8
Prediction of long-term outcome in glycine encephalopathy: a clinical survey. ( 22002442 )
2012
9
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). ( 21470805 )
2011
10
Nitrous oxide for glycine encephalopathy. ( 20849515 )
2010
11
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. ( 19299230 )
2009
12
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor. ( 18414141 )
2008
13
Glycine encephalopathy and anesthesia. ( 17646534 )
2007
14
Glycine encephalopathy and delayed emergence from anesthesia. ( 17122304 )
2006
15
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test. ( 16634033 )
2006
16
Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. ( 16353254 )
2006
17
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. ( 16601880 )
2006
18
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. ( 15864413 )
2005
19
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. ( 15851735 )
2005
20
Two cases of glycine encephalopathy accompanied by pes equinovarus. ( 15996406 )
2005
21
Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. ( 15272469 )
2004
22
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). ( 12948742 )
2003
23
Gene Symbol: GLDC. Disease: NKH glycine encephalopathy. ( 14552331 )
2003
24
Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). ( 12418798 )
2002
25
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). ( 12126939 )
2002
26
Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy). ( 11920907 )
2002
27
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. ( 11592811 )
2001
28
Glycine Encephalopathy ( 20301531 )
1993
29
Neonatal glycine encephalopathy: biochemical and neuropathologic findings. ( 8499044 )
1993
30
Brain neurotransmitters in glycine encephalopathy. ( 2906530 )
1988
31
Glycine encephalopathy in a neonate. Treatment with intravenous strychnine and sodium benzoate. ( 7116748 )
1982
32
Prenatal diagnosis of glycine encephalopathy. ( 6804868 )
1982
33
A strategy for glycine encephalopathy therapy. ( 6809951 )
1982
34
The neuropathology of glycine encephalopathy: a report of five cases with immunohistochemical and ultrastructural observations. ( 6180354 )
1982
35
Early treatment of severe infantile glycine encephalopathy (nonketotic hyperglycinemia) with strychnine and sodium benzoate. ( 531053 )
1979
36
Glycine encephalopathy. ( 583064 )
1979
37
Glycine encephalopathy. ( 628392 )
1978
38
Studies of the glycine cleavage enzyme system in brain from infants with glycine encephalopathy. ( 593763 )
1977

Variations for Glycine Encephalopathy

UniProtKB/Swiss-Prot genetic disease variations for Glycine Encephalopathy:

71 (show all 32)
id Symbol AA change Variation ID SNP ID
1 AMT p.His42Arg VAR_007951 rs121964983
2 AMT p.Gly47Arg VAR_007952 rs121964982
3 AMT p.Gly269Asp VAR_007953 rs121964981
4 AMT p.Asp276His VAR_007954 rs121964984
5 AMT p.Arg320His VAR_007955 rs121964985
6 AMT p.Asn145Ile VAR_016847 rs386833682
7 AMT p.Glu211Lys VAR_016848 rs116192290
8 AMT p.Arg265Cys VAR_074107 rs779483959
9 AMT p.Arg94Trp VAR_078794 rs1126422
10 AMT p.Arg222Cys VAR_078795 rs781466698
11 AMT p.Arg296Cys VAR_078796
12 GLDC p.Ser564Ile VAR_004979 rs121964974
13 GLDC p.Ala283Pro VAR_016849 rs386833589
14 GLDC p.Arg515Ser VAR_016851 rs121964976
15 GLDC p.Thr146Lys VAR_078776 rs376578742
16 GLDC p.Leu173Pro VAR_078777
17 GLDC p.Pro267Ala VAR_078778
18 GLDC p.Arg362Cys VAR_078779 rs10975674
19 GLDC p.Arg373Trp VAR_078780 rs150171524
20 GLDC p.Lys376Glu VAR_078781 rs774093619
21 GLDC p.Arg461Trp VAR_078782 rs761957837
22 GLDC p.Leu548Pro VAR_078783
23 GLDC p.His580Tyr VAR_078784
24 GLDC p.Pro581Arg VAR_078785 rs772871471
25 GLDC p.Ala624Asp VAR_078786
26 GLDC p.Gly763Asp VAR_078787
27 GLDC p.Gly768Glu VAR_078788
28 GLDC p.Arg790Trp VAR_078789 rs386833556
29 GLDC p.Asp866His VAR_078790
30 GLDC p.Val905Gly VAR_078791 rs188269735
31 GLDC p.Ile933Thr VAR_078792 rs758029533
32 GLDC p.Gly994Arg VAR_078793

ClinVar genetic disease variations for Glycine Encephalopathy:

6 (show top 50) (show all 119)
id Gene Variation Type Significance SNP ID Assembly Location
1 GCSH GCSH, COMPLEX REARRANGEMENT undetermined variant Pathogenic
2 AMT NM_000481.3(AMT): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs121964981 GRCh37 Chromosome 3, 49456475: 49456475
3 AMT NM_000481.3(AMT): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs121964982 GRCh37 Chromosome 3, 49459656: 49459656
4 AMT NM_000481.3(AMT): c.125A> G (p.His42Arg) single nucleotide variant Pathogenic rs121964983 GRCh37 Chromosome 3, 49459670: 49459670
5 AMT AMT, 1-BP DEL, 183C deletion Pathogenic
6 AMT NM_000481.3(AMT): c.826G> C (p.Asp276His) single nucleotide variant Pathogenic rs121964984 GRCh37 Chromosome 3, 49456455: 49456455
7 AMT NM_000481.3(AMT): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs121964985 GRCh37 Chromosome 3, 49455325: 49455325
8 AMT NM_000481.3(AMT): c.574C> T (p.Gln192Ter) single nucleotide variant Pathogenic rs121964986 GRCh37 Chromosome 3, 49456815: 49456815
9 AMT NM_000481.3(AMT): c.878-1G> A single nucleotide variant Pathogenic rs181134220 GRCh37 Chromosome 3, 49455407: 49455407
10 GLDC NM_000170.2(GLDC): c.1691G> T (p.Ser564Ile) single nucleotide variant Pathogenic rs121964974 GRCh37 Chromosome 9, 6588417: 6588417
11 GLDC GLDC, 30-KB DEL deletion Pathogenic
12 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
13 GLDC NM_000170.2(GLDC): c.2281G> C (p.Gly761Arg) single nucleotide variant Pathogenic rs386833549 GRCh37 Chromosome 9, 6554703: 6554703
14 GLDC NM_000170.2(GLDC): c.2405C> T (p.Ala802Val) single nucleotide variant Pathogenic rs121964977 GRCh37 Chromosome 9, 6553420: 6553420
15 GLDC NM_000170.2(GLDC): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964978 GRCh37 Chromosome 9, 6645498: 6645498
16 GLDC NM_000170.2(GLDC): c.1166C> T (p.Ala389Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964979 GRCh37 Chromosome 9, 6595109: 6595109
17 GLDC NM_000170.2(GLDC): c.2216G> A (p.Arg739His) single nucleotide variant Pathogenic rs121964980 GRCh37 Chromosome 9, 6554768: 6554768
18 GLDC GLDC, 2607C-A single nucleotide variant Pathogenic
19 GLDC NM_000170.2(GLDC): c.1111C> G (p.His371Asp) single nucleotide variant Likely pathogenic rs386833519 GRCh38 Chromosome 9, 6602153: 6602153
20 GLDC NM_000170.2(GLDC): c.1285_1286insCAAA (p.Leu429Profs) insertion Likely pathogenic rs386833522 GRCh38 Chromosome 9, 6592966: 6592967
21 GLDC NM_000170.2(GLDC): c.1402-1G> C single nucleotide variant Likely pathogenic rs386833525 GRCh37 Chromosome 9, 6592224: 6592224
22 GLDC NM_000170.2(GLDC): c.1597A> T (p.Asn533Tyr) single nucleotide variant Likely pathogenic rs386833528 GRCh37 Chromosome 9, 6588686: 6588686
23 GLDC NM_000170.2(GLDC): c.176G> C (p.Arg59Thr) single nucleotide variant Likely pathogenic rs386833530 GRCh38 Chromosome 9, 6645324: 6645324
24 GLDC NM_000170.2(GLDC): c.2186delC (p.Ala729Glufs) deletion Likely pathogenic rs386833543 GRCh37 Chromosome 9, 6556169: 6556169
25 GLDC NM_000170.2(GLDC): c.2203-2A> G single nucleotide variant Likely pathogenic rs386833545 GRCh37 Chromosome 9, 6554783: 6554783
26 GLDC NM_000170.2(GLDC): c.2258A> C (p.His753Pro) single nucleotide variant Likely pathogenic rs386833547 GRCh37 Chromosome 9, 6554726: 6554726
27 GLDC NM_000170.2(GLDC): c.2489C> T (p.Thr830Met) single nucleotide variant Likely pathogenic rs386833560 GRCh38 Chromosome 9, 6550883: 6550883
28 GLDC NM_000170.2(GLDC): c.2521G> C (p.Ala841Pro) single nucleotide variant Likely pathogenic rs386833562 GRCh38 Chromosome 9, 6550851: 6550851
29 GLDC NM_000170.2(GLDC): c.255+1G> A single nucleotide variant Likely pathogenic rs386833563 GRCh37 Chromosome 9, 6645244: 6645244
30 GLDC NM_000170.2(GLDC): c.2574T> G (p.Tyr858Ter) single nucleotide variant Likely pathogenic rs386833564 GRCh37 Chromosome 9, 6540142: 6540142
31 GLDC NM_000170.2(GLDC): c.1786C> T (p.Arg596Ter) single nucleotide variant Likely pathogenic rs386833531 GRCh37 Chromosome 9, 6587205: 6587205
32 GLDC NM_000170.2(GLDC): c.2607C> A (p.Pro869=) single nucleotide variant Likely pathogenic rs386833565 GRCh37 Chromosome 9, 6540109: 6540109
33 GLDC NM_000170.2(GLDC): c.2196T> A (p.Asn732Lys) single nucleotide variant Likely pathogenic rs386833544 GRCh37 Chromosome 9, 6556159: 6556159
34 GLDC NM_000170.2(GLDC): c.2213_2214delGT (p.Cys738Serfs) deletion Likely pathogenic rs386833546 GRCh37 Chromosome 9, 6554770: 6554771
35 GLDC NM_000170.2(GLDC): c.245T> G (p.Leu82Trp) single nucleotide variant Likely pathogenic rs386833559 GRCh37 Chromosome 9, 6645255: 6645255
36 GLDC NM_000170.2(GLDC): c.1175delC (p.Ala392Valfs) deletion Likely pathogenic rs386833520 GRCh37 Chromosome 9, 6595100: 6595100
37 GLDC NM_000170.2(GLDC): c.1319T> A (p.Ile440Asn) single nucleotide variant Likely pathogenic rs386833523 GRCh37 Chromosome 9, 6592933: 6592933
38 GLDC NM_000170.2(GLDC): c.1382G> A (p.Arg461Gln) single nucleotide variant Likely pathogenic rs386833524 GRCh38 Chromosome 9, 6592870: 6592870
39 GLDC NM_000170.2(GLDC): c.1444dupG (p.Asp482Glyfs) duplication Likely pathogenic rs386833526 GRCh37 Chromosome 9, 6592181: 6592181
40 GLDC NM_000170.2(GLDC): c.1595C> G (p.Thr532Arg) single nucleotide variant Likely pathogenic rs386833527 GRCh37 Chromosome 9, 6588688: 6588688
41 GLDC NM_000170.2(GLDC): c.2519T> A (p.Met840Lys) single nucleotide variant Likely pathogenic rs386833561 GRCh37 Chromosome 9, 6550853: 6550853
42 GLDC NM_000170.2(GLDC): c.1654A> G (p.Met552Val) single nucleotide variant Likely pathogenic rs386833529 GRCh38 Chromosome 9, 6588629: 6588629
43 GLDC NM_000170.2(GLDC): c.1270C> T (p.Arg424Ter) single nucleotide variant Likely pathogenic rs386833521 GRCh37 Chromosome 9, 6592982: 6592982
44 GLDC NM_000170.2(GLDC): c.1054delA (p.Thr352Glnfs) deletion Likely pathogenic rs386833518 GRCh38 Chromosome 9, 6604592: 6604592
45 GLDC NM_000170.2(GLDC): c.1822_1832delTATGACCAGGT (p.Tyr608Leufs) deletion Likely pathogenic rs386833532 GRCh37 Chromosome 9, 6587159: 6587169
46 GLDC NM_000170.2(GLDC): c.2182G> C (p.Gly728Arg) single nucleotide variant Likely pathogenic rs386833542 GRCh38 Chromosome 9, 6556173: 6556173
47 GLDC NM_000170.2(GLDC): c.1002dupT (p.Ala335Cysfs) duplication Likely pathogenic rs386833516 GRCh37 Chromosome 9, 6604644: 6604644
48 GLDC NM_000170.2(GLDC): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833517 GRCh37 Chromosome 9, 6604637: 6604637
49 GLDC NM_000170.2(GLDC): c.1832T> G (p.Val611Gly) single nucleotide variant Likely pathogenic rs386833533 GRCh37 Chromosome 9, 6587159: 6587159
50 GLDC NM_000170.2(GLDC): c.1926+1G> A single nucleotide variant Likely pathogenic rs386833534 GRCh37 Chromosome 9, 6565353: 6565353

Copy number variations for Glycine Encephalopathy from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 249413 9 14100000 19900000 Copy number GCSP Glycine encephalopathy

Expression for Glycine Encephalopathy

Search GEO for disease gene expression data for Glycine Encephalopathy.

Pathways for Glycine Encephalopathy

Pathways related to Glycine Encephalopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 AMT EIF2B4 GCSH GLDC LIAS LIPT1
2
Show member pathways
11.88 AMT GCSH GLDC GLYCTK
3
Show member pathways
11.17 AMT GCSH GLDC GLYCTK
4 10.7 AMT GCSH GLDC GLYCTK
5
Show member pathways
10.63 AMT GCSH GLDC LIAS LIPT1

GO Terms for Glycine Encephalopathy

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.61 ABAT AMT BOLA3 GCSH GLDC GLRX5
2 mitochondrial matrix GO:0005759 9.23 ABAT AMT GCSH GLDC GLRX5 LIAS
3 glycine cleavage complex GO:0005960 9.16 GCSH GLDC

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

id Name GO ID Score Top Affiliating Genes
1 cellular nitrogen compound metabolic process GO:0034641 9.43 GCSH LIAS LIPT1
2 neurotransmitter transport GO:0006836 9.37 SLC6A5 SLC6A9
3 glycine decarboxylation via glycine cleavage system GO:0019464 9.33 AMT GCSH GLDC
4 glycine transport GO:0015816 9.32 SLC6A5 SLC6A9
5 glycine catabolic process GO:0006546 9.13 AMT GCSH GLDC
6 protein lipoylation GO:0009249 8.92 GCSH GLRX5 LIAS LIPT1

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

id Name GO ID Score Top Affiliating Genes
1 transaminase activity GO:0008483 9.37 ABAT AMT
2 iron-sulfur cluster binding GO:0051536 9.33 ABAT GLRX5 LIAS
3 neurotransmitter:sodium symporter activity GO:0005328 9.32 SLC6A5 SLC6A9
4 glycine transmembrane transporter activity GO:0015187 9.26 SLC6A5 SLC6A9
5 aminomethyltransferase activity GO:0004047 8.96 AMT GCSH
6 glycine:sodium symporter activity GO:0015375 8.62 SLC6A5 SLC6A9

Sources for Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....