NKH
MCID: GLY010
MIFTS: 57

Glycine Encephalopathy (NKH)

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

Aliases & Classifications for Glycine Encephalopathy

MalaCards integrated aliases for Glycine Encephalopathy:

Name: Glycine Encephalopathy 58 12 25 54 26 60 76 13 15
Non-Ketotic Hyperglycinemia 12 54 26 60 76 30 6
Nonketotic Hyperglycinemia 12 77 25 54 26 38 74
Nkh 58 25 26 76
Hyperglycinemia, Nonketotic 58 26 45
Hyperglycinemia Nonketotic 54 56
Gce 58 76
Infantile Non-Ketotic Hyperglycinemia 60
Neonatal Non-Ketotic Hyperglycinemia 60
Hyperglycinemia, Nonketotic; Nkh 58
Infantile Glycine Encephalopathy 60
Neonatal Glycine Encephalopathy 60
Classic Glycine Encephalopathy 60
Hyperglycinemia, Non-Ketotic 77
Glycine Synthase Deficiency 54
Encephalopathy, Glycine 41
Infantile Nkh 60
Neonatal Nkh 60
Nka 60

Characteristics:

Orphanet epidemiological data:

60
glycine encephalopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;
neonatal glycine encephalopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
infantile glycine encephalopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
glycine encephalopathy:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycine Encephalopathy

NIH Rare Diseases : 54 Glycine encephalopathy is an inheritedmetabolic disease characterized by abnormally high levels of an amino acid called glycine. Glycine is a chemical messenger that transmits signals in the brain.  According to the symptoms the disease onset, glycine encephalopathy may be divided in:Classical neonatal form (most common): Symptoms start within a few days of life and may include poor feeding, lack of energy (lethargy), weak muscle tone (hypotonia), hiccups, breathing problems, seizures, hiccups, and coma. Infantile form: Symptoms start only after 6 months of age, as intellectual disability, abnormal movements, and behavioral problems Late onset: Symptoms include tightness or stiffness of the legs or arms (spastic diplegia), and vision loss due to a damage of the eye nerve (optic atrophy).  Transient form: Symptoms are similar to the classic form, but glycine levels decrease and the symptoms may improve within time.  Glycine encephalopathy is caused by changes (mutations) in the AMT, GLDC or GCSH genes which result in a deficiency of the enzyme that break-up the glycine. Diagnosis is based in the symptoms, the high glycine levels and the enzyme deficiency, as well as genetic testing.  Inheritance is autosomal recessive. Treatment may include sodium benzoate to reduce the levels of glycine, N-methyl D-aspartate (NMDA) receptor site antagonists, anti-seizure drugs and ketogenic diet. About half of the babies with the classic form, die within a few weeks of life and the survivors may have motor delay, very small head, seizures and stiffness. In the transient form symptoms may improve with time. 

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

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

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 Non-ketotic hyperglycinemia: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.

Wikipedia : 77 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

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 atypical glycine encephalopathy 33.6 AMT GCSH GLDC SLC6A9
2 glycine encephalopathy with normal serum glycine 12.6
3 d-glyceric aciduria 11.7
4 lipoic acid biosynthesis defects 11.3
5 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 11.1
6 hyperglycinemia, lactic acidosis, and seizures 11.1
7 spasticity, childhood-onset, with hyperglycinemia 11.1
8 encephalopathy 10.6
9 hydrocephalus 10.3
10 neural tube defects 10.2
11 neural tube defects, folate-sensitive 10.2
12 propionic acidemia 10.2
13 epileptic encephalopathy, early infantile, 3 10.2
14 epileptic encephalopathy, early infantile, 4 10.2
15 early myoclonic encephalopathy 10.2
16 cri-du-chat syndrome 10.2
17 acrodermatitis enteropathica, zinc-deficiency type 10.2
18 megalocornea 10.2
19 cataract 10.2
20 thrombosis 10.2
21 leukodystrophy 10.2
22 pulmonary edema 10.2
23 vascular disease 10.2
24 epilepsy 10.2
25 acrodermatitis 10.2
26 neuromuscular disease 10.2
27 pathologic nystagmus 10.2
28 congenital hydrocephalus 10.2
29 enteropathica 10.2
30 spinocerebellar degeneration 10.2
31 cerebral sinovenous thrombosis 10.2
32 asthma 10.1
33 breast cyst 10.1
34 depression 10.1
35 isolated optic neuritis 10.1
36 alcohol-related neurodevelopmental disorder 10.0 BOLA3 GCSH GLRX5
37 albinism, oculocutaneous, type ib 9.8 MYBPH OCA2
38 albinism, oculocutaneous, type ia 9.6 MYBPH OCA2
39 hyperekplexia 9.6 GLRA1 GLRB SLC6A5 SLC6A9

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



Diseases related to Glycine Encephalopathy

Symptoms & Phenotypes for Glycine Encephalopathy

Human phenotypes related to Glycine Encephalopathy:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent singultus 60 33 hallmark (90%) Very frequent (99-80%) HP:0100247
2 hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002079
3 central hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011398
4 hyperglycinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002154
5 eeg with burst suppression 60 33 hallmark (90%) Very frequent (99-80%) HP:0010851
6 abnormal metabolic brain imaging by mrs 60 33 hallmark (90%) Very frequent (99-80%) HP:0012705
7 generalized myoclonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002123
8 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
9 poor suck 60 33 frequent (33%) Frequent (79-30%) HP:0002033
10 breathing dysregulation 60 33 frequent (33%) Frequent (79-30%) HP:0005957
11 respiratory acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0005972
12 seizures 60 33 Very frequent (99-80%) HP:0001250
13 agenesis of corpus callosum 33 HP:0001274
14 intellectual disability 33 HP:0001249
15 muscular hypotonia 33 HP:0001252
16 hyperreflexia 33 HP:0001347
17 eeg abnormality 60 Very frequent (99-80%)
18 irritability 33 HP:0000737
19 myoclonus 33 HP:0001336
20 aggressive behavior 33 HP:0000718
21 hyporeflexia 33 HP:0001265
22 generalized hypotonia 33 HP:0001290
23 encephalopathy 33 HP:0001298
24 hyperactivity 33 HP:0000752
25 impulsivity 33 HP:0100710
26 restlessness 33 HP:0000711
27 hyperglycinuria 33 HP:0003108

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
lethargy
hypotonia
mental retardation
myoclonic jerks
more
Laboratory Abnormalities:
hyperglycinemia
hyperglycinuria
hepatic glycine cleavage defect
elevated csf glycine
elevated csf/plasma glycine ratio

Neurologic Behavioral Psychiatric Manifestations:
irritability
hyperactivity
impulsivity
restlessness
aggressiveness

Clinical features from OMIM:

605899

UMLS symptoms related to Glycine Encephalopathy:


seizures, myoclonus, lethargy, restlessness

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 AMT GLRX5 OCA2 SUOX

Drugs & Therapeutics for Glycine Encephalopathy

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo

Search NIH Clinical Center for Glycine Encephalopathy

Cochrane evidence based reviews: hyperglycinemia, nonketotic

Genetic Tests for Glycine Encephalopathy

Genetic tests related to Glycine Encephalopathy:

# Genetic test Affiliating Genes
1 Non-Ketotic Hyperglycinemia 30 AMT GCSH GLDC

Anatomical Context for Glycine Encephalopathy

MalaCards organs/tissues related to Glycine Encephalopathy:

42
Brain, Eye, Testes, Spinal Cord

Publications for Glycine Encephalopathy

Articles related to Glycine Encephalopathy:

(show top 50) (show all 62)
# Title Authors Year
1
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy. ( 30105116 )
2018
2
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia. ( 29304759 )
2018
3
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene. ( 28325525 )
2017
4
Avoid mitochondrion-toxic antiepileptic drugs in glycine encephalopathy. ( 28882326 )
2017
5
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia. ( 28416785 )
2017
6
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( 27773429 )
2016
7
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. ( 26108146 )
2015
8
A rare case of glycine encephalopathy unveiled by valproate therapy. ( 26167219 )
2015
9
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. ( 24407464 )
2014
10
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy. ( 25231368 )
2014
11
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. ( 27896094 )
2014
12
Prediction of long-term outcome in glycine encephalopathy: a clinical survey. ( 22002442 )
2012
13
Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia. ( 23005907 )
2012
14
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). ( 21470805 )
2011
15
Neonatal non-ketotic hyperglycinemia. ( 21354623 )
2011
16
Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia. ( 21471552 )
2011
17
Nitrous oxide for glycine encephalopathy. ( 20849515 )
2010
18
Perioperative care of a child with non-ketotic hyperglycinemia. ( 21189859 )
2010
19
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. ( 19299230 )
2009
20
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
21
Neonatal non-ketotic hyperglycinemia: report of five cases. ( 18279221 )
2008
22
Glycine encephalopathy and anesthesia. ( 17646534 )
2007
23
Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. ( 17207649 )
2007
24
Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. ( 16353254 )
2006
25
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test. ( 16634033 )
2006
26
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. ( 16601880 )
2006
27
Glycine encephalopathy and delayed emergence from anesthesia. ( 17122304 )
2006
28
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
29
Two cases of glycine encephalopathy accompanied by pes equinovarus. ( 15996406 )
2005
30
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. ( 15851735 )
2005
31
Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. ( 15272469 )
2004
32
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). ( 12948742 )
2003
33
Gene Symbol: GLDC. Disease: NKH glycine encephalopathy. ( 14552331 )
2003
34
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). ( 12126939 )
2002
35
Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). ( 12418798 )
2002
36
Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy). ( 11920907 )
2002
37
Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia. ( 12493053 )
2002
38
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. ( 11592811 )
2001
39
Depletion of cerebral D-serine in non-ketotic hyperglycinemia: possible involvement of glycine cleavage system in control of endogenous D-serine. ( 9070895 )
1997
40
Neonatal glycine encephalopathy: biochemical and neuropathologic findings. ( 8499044 )
1993
41
Glycine Encephalopathy ( 20301531 )
1993
42
Blindness due to non-ketotic hyperglycinemia: report of a 38-year-old, the oldest case to date. ( 8312663 )
1993
43
Brain neurotransmitters in glycine encephalopathy. ( 2906530 )
1988
44
Prenatal diagnosis of non-ketotic hyperglycinemia. ( 3092206 )
1986
45
Effects of dipropylacetate on the glycine cleavage enzyme system and glycine levels. A possible experimental approach to non-ketotic hyperglycinemia. ( 3927922 )
1985
46
Neonatal non-ketotic hyperglycinemia (NKH). Diagnoses and management in two cases. ( 4080094 )
1985
47
Glycine encephalopathy in a neonate. Treatment with intravenous strychnine and sodium benzoate. ( 7116748 )
1982
48
The neuropathology of glycine encephalopathy: a report of five cases with immunohistochemical and ultrastructural observations. ( 6180354 )
1982
49
Prenatal diagnosis of glycine encephalopathy. ( 6804868 )
1982
50
A strategy for glycine encephalopathy therapy. ( 6809951 )
1982

Variations for Glycine Encephalopathy

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

76 (show all 33)
# 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 rs105682094
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 rs137411069
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 rs140671310
33 GLDC p.Tyr839Cys VAR_079313

ClinVar genetic disease variations for Glycine Encephalopathy:

6 (show top 50) (show all 879)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMT NM_001164712.1(AMT): c.870G> A (p.Trp290Ter) single nucleotide variant Pathogenic rs797045082 GRCh38 Chromosome 3, 49418978: 49418978
2 AMT NM_001164712.1(AMT): c.870G> A (p.Trp290Ter) single nucleotide variant Pathogenic rs797045082 GRCh37 Chromosome 3, 49456411: 49456411
3 GLDC NM_000170.2(GLDC): c.1742C> G (p.Pro581Arg) single nucleotide variant Likely pathogenic rs772871471 GRCh38 Chromosome 9, 6587249: 6587249
4 GLDC NM_000170.2(GLDC): c.1742C> G (p.Pro581Arg) single nucleotide variant Likely pathogenic rs772871471 GRCh37 Chromosome 9, 6587249: 6587249
5 GCSH GCSH, COMPLEX REARRANGEMENT (1 patient) undetermined variant Pathogenic
6 AMT NM_000481.3(AMT): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs121964981 GRCh37 Chromosome 3, 49456475: 49456475
7 AMT NM_000481.3(AMT): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs121964981 GRCh38 Chromosome 3, 49419042: 49419042
8 AMT NM_000481.3(AMT): c.139G> A (p.Gly47Arg) single nucleotide variant Uncertain significance rs121964982 GRCh37 Chromosome 3, 49459656: 49459656
9 AMT NM_000481.3(AMT): c.139G> A (p.Gly47Arg) single nucleotide variant Uncertain significance rs121964982 GRCh38 Chromosome 3, 49422223: 49422223
10 AMT NM_000481.3(AMT): c.125A> G (p.His42Arg) single nucleotide variant Pathogenic rs121964983 GRCh37 Chromosome 3, 49459670: 49459670
11 AMT NM_000481.3(AMT): c.125A> G (p.His42Arg) single nucleotide variant Pathogenic rs121964983 GRCh38 Chromosome 3, 49422237: 49422237
12 AMT AMT, 1-BP DEL, 183C deletion Pathogenic
13 AMT NM_000481.3(AMT): c.826G> C (p.Asp276His) single nucleotide variant Likely pathogenic rs121964984 GRCh37 Chromosome 3, 49456455: 49456455
14 AMT NM_000481.3(AMT): c.826G> C (p.Asp276His) single nucleotide variant Likely pathogenic rs121964984 GRCh38 Chromosome 3, 49419022: 49419022
15 AMT NM_000481.3(AMT): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs121964985 GRCh37 Chromosome 3, 49455325: 49455325
16 AMT NM_000481.3(AMT): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs121964985 GRCh38 Chromosome 3, 49417892: 49417892
17 AMT NM_000481.3(AMT): c.574C> T (p.Gln192Ter) single nucleotide variant Likely pathogenic rs121964986 GRCh37 Chromosome 3, 49456815: 49456815
18 AMT NM_000481.3(AMT): c.574C> T (p.Gln192Ter) single nucleotide variant Likely pathogenic rs121964986 GRCh38 Chromosome 3, 49419382: 49419382
19 AMT NM_000481.3(AMT): c.878-1G> A single nucleotide variant Pathogenic rs181134220 GRCh37 Chromosome 3, 49455407: 49455407
20 AMT NM_000481.3(AMT): c.878-1G> A single nucleotide variant Pathogenic rs181134220 GRCh38 Chromosome 3, 49417974: 49417974
21 GLDC NM_000170.2(GLDC): c.1691G> T (p.Ser564Ile) single nucleotide variant Pathogenic rs121964974 GRCh37 Chromosome 9, 6588417: 6588417
22 GLDC NM_000170.2(GLDC): c.1691G> T (p.Ser564Ile) single nucleotide variant Pathogenic rs121964974 GRCh38 Chromosome 9, 6588417: 6588417
23 GLDC GLDC, 30-KB DEL deletion Pathogenic
24 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
25 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
26 GLDC NM_000170.2(GLDC): c.2281G> C (p.Gly761Arg) single nucleotide variant Pathogenic rs386833549 GRCh37 Chromosome 9, 6554703: 6554703
27 GLDC NM_000170.2(GLDC): c.2281G> C (p.Gly761Arg) single nucleotide variant Pathogenic rs386833549 GRCh38 Chromosome 9, 6554703: 6554703
28 GLDC NM_000170.2(GLDC): c.2405C> T (p.Ala802Val) single nucleotide variant Pathogenic rs121964977 GRCh37 Chromosome 9, 6553420: 6553420
29 GLDC NM_000170.2(GLDC): c.2405C> T (p.Ala802Val) single nucleotide variant Pathogenic rs121964977 GRCh38 Chromosome 9, 6553420: 6553420
30 GLDC NM_000170.2(GLDC): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964978 GRCh37 Chromosome 9, 6645498: 6645498
31 GLDC NM_000170.2(GLDC): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964978 GRCh38 Chromosome 9, 6645498: 6645498
32 GLDC NM_000170.2(GLDC): c.1166C> T (p.Ala389Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964979 GRCh37 Chromosome 9, 6595109: 6595109
33 GLDC NM_000170.2(GLDC): c.1166C> T (p.Ala389Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964979 GRCh38 Chromosome 9, 6595109: 6595109
34 GLDC NM_000170.2(GLDC): c.2216G> A (p.Arg739His) single nucleotide variant Pathogenic rs121964980 GRCh37 Chromosome 9, 6554768: 6554768
35 GLDC NM_000170.2(GLDC): c.2216G> A (p.Arg739His) single nucleotide variant Pathogenic rs121964980 GRCh38 Chromosome 9, 6554768: 6554768
36 GLDC GLDC, 2607C-A single nucleotide variant Pathogenic
37 GLDC NM_000170.2(GLDC): c.1002dupT (p.Ala335Cysfs) duplication Likely pathogenic rs386833516 GRCh37 Chromosome 9, 6604644: 6604644
38 GLDC NM_000170.2(GLDC): c.1002dupT (p.Ala335Cysfs) duplication Likely pathogenic rs386833516 GRCh38 Chromosome 9, 6604644: 6604644
39 GLDC NM_000170.2(GLDC): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs386833517 GRCh37 Chromosome 9, 6604637: 6604637
40 GLDC NM_000170.2(GLDC): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs386833517 GRCh38 Chromosome 9, 6604637: 6604637
41 GLDC NM_000170.2(GLDC): c.1054delA (p.Thr352Glnfs) deletion Pathogenic/Likely pathogenic rs386833518 GRCh37 Chromosome 9, 6604592: 6604592
42 GLDC NM_000170.2(GLDC): c.1054delA (p.Thr352Glnfs) deletion Pathogenic/Likely pathogenic rs386833518 GRCh38 Chromosome 9, 6604592: 6604592
43 GLDC NM_000170.2(GLDC): c.1111C> G (p.His371Asp) single nucleotide variant Likely pathogenic rs386833519 GRCh37 Chromosome 9, 6602153: 6602153
44 GLDC NM_000170.2(GLDC): c.1111C> G (p.His371Asp) single nucleotide variant Likely pathogenic rs386833519 GRCh38 Chromosome 9, 6602153: 6602153
45 GLDC NM_000170.2(GLDC): c.1175delC (p.Ala392Valfs) deletion Likely pathogenic rs386833520 GRCh37 Chromosome 9, 6595100: 6595100
46 GLDC NM_000170.2(GLDC): c.1175delC (p.Ala392Valfs) deletion Likely pathogenic rs386833520 GRCh38 Chromosome 9, 6595100: 6595100
47 GLDC NM_000170.2(GLDC): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833521 GRCh37 Chromosome 9, 6592982: 6592982
48 GLDC NM_000170.2(GLDC): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833521 GRCh38 Chromosome 9, 6592982: 6592982
49 GLDC NM_000170.2(GLDC): c.1285_1286insCAAA (p.Leu429Profs) insertion Likely pathogenic rs386833522 GRCh37 Chromosome 9, 6592966: 6592967
50 GLDC NM_000170.2(GLDC): c.1285_1286insCAAA (p.Leu429Profs) insertion Likely pathogenic rs386833522 GRCh38 Chromosome 9, 6592966: 6592967

Copy number variations for Glycine Encephalopathy from CNVD:

7
# 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 KEGG:

38
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 AMT GCSH GLDC LIAS LIPT1 LIPT2
2
Show member pathways
13.04 GLRA1 GLRA2 GLRA3 GLRA4 GLRB SLC6A5
3
Show member pathways
12.74 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4
Show member pathways
12.15 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
5
Show member pathways
11.21 AMT GCSH GLDC
6
Show member pathways
10.98 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
7 10.81 AMT GCSH GLDC
8
Show member pathways
10.71 AMT GCSH GLDC LIAS LIPT1 LIPT2

GO Terms for Glycine Encephalopathy

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.96 ABAT AMT BOLA3 GCSH GLDC GLRX5
2 cell junction GO:0030054 9.93 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
3 synapse GO:0045202 9.89 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4 dendrite GO:0030425 9.88 GLRA1 GLRA3 GLRA4 GLRB GLRX5
5 neuron projection GO:0043005 9.8 ABAT GLRA1 GLRA2 GLRA3 GLRA4 GLRB
6 postsynaptic membrane GO:0045211 9.77 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
7 perikaryon GO:0043204 9.69 GLRA1 GLRA3 GLRA4
8 integral component of presynaptic membrane GO:0099056 9.63 GLRA1 SLC6A5 SLC6A9
9 mitochondrial matrix GO:0005759 9.61 ABAT AMT GCSH GLDC GLRX5 LIAS
10 chloride channel complex GO:0034707 9.55 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
11 integral component of postsynaptic specialization membrane GO:0099060 9.52 GLRA1 GLRA4
12 glycine cleavage complex GO:0005960 9.43 GCSH GLDC
13 glycine-gated chloride channel complex GO:0016935 9.4 GLRA3 GLRB
14 glycinergic synapse GO:0098690 9.02 GLRA1 GLRA2 GLRA4 GLRB SLC6A5
15 integral component of plasma membrane GO:0005887 10.02 GLRA1 GLRA2 GLRA3 GLRA4 GLRB SLC6A9

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.99 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
2 chemical synaptic transmission GO:0007268 9.97 GLRA1 GLRA2 GLRA3 GLRA4 GLRB SLC6A5
3 ion transmembrane transport GO:0034220 9.93 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4 regulation of membrane potential GO:0042391 9.91 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
5 neuropeptide signaling pathway GO:0007218 9.85 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
6 chloride transmembrane transport GO:1902476 9.83 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
7 chloride transport GO:0006821 9.77 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
8 excitatory postsynaptic potential GO:0060079 9.72 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
9 cellular nitrogen compound metabolic process GO:0034641 9.7 LIAS LIPT1 LIPT2
10 glycine decarboxylation via glycine cleavage system GO:0019464 9.65 AMT GCSH GLDC
11 nervous system process GO:0050877 9.65 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
12 adult walking behavior GO:0007628 9.61 GLRA1 GLRB
13 neuromuscular process GO:0050905 9.61 GLRA1 GLRB
14 cellular response to zinc ion GO:0071294 9.6 GLRA1 GLRA2
15 acrosome reaction GO:0007340 9.58 GLRA1 GLRB
16 startle response GO:0001964 9.58 GLRA1 GLRB
17 glycine catabolic process GO:0006546 9.58 AMT GCSH GLDC
18 cellular response to ethanol GO:0071361 9.57 GLRA1 GLRA2
19 glycine transport GO:0015816 9.56 SLC6A5 SLC6A9
20 righting reflex GO:0060013 9.55 GLRA1 GLRB
21 response to amino acid GO:0043200 9.55 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
22 protein lipoylation GO:0009249 9.35 GCSH GLRX5 LIAS LIPT1 LIPT2
23 synaptic transmission, glycinergic GO:0060012 9.1 GLRA1 GLRA2 GLRA3 GLRA4 GLRB SLC6A5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.8 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
2 ion channel activity GO:0005216 9.77 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
3 chloride channel activity GO:0005254 9.72 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
4 iron-sulfur cluster binding GO:0051536 9.7 ABAT GLRX5 LIAS
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.69 GLRA1 GLRA2 GLRB
6 extracellular ligand-gated ion channel activity GO:0005230 9.65 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
7 transaminase activity GO:0008483 9.55 ABAT AMT
8 glycine transmembrane transporter activity GO:0015187 9.54 SLC6A5 SLC6A9
9 aminomethyltransferase activity GO:0004047 9.49 AMT GCSH
10 extracellularly glycine-gated ion channel activity GO:0016933 9.48 GLRA1 GLRB
11 glycine:sodium symporter activity GO:0015375 9.46 SLC6A5 SLC6A9
12 transmitter-gated ion channel activity GO:0022824 9.46 GLRA1 GLRA2 GLRA3 GLRA4
13 glycine-gated chloride ion channel activity GO:0022852 9.43 GLRA2 GLRA3
14 extracellularly glycine-gated chloride channel activity GO:0016934 9.35 GLRA1 GLRA2 GLRA3 GLRA4 GLRB
15 glycine binding GO:0016594 9.1 GLDC GLRA1 GLRA2 GLRA3 GLRA4 GLRB

Sources for Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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