GCE
MCID: GLY010
MIFTS: 60

Glycine Encephalopathy (GCE)

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

Aliases & Classifications for Glycine Encephalopathy

MalaCards integrated aliases for Glycine Encephalopathy:

Name: Glycine Encephalopathy 56 12 52 25 58 73 13 15
Non-Ketotic Hyperglycinemia 12 52 25 58 73 29 6
Nonketotic Hyperglycinemia 12 74 24 52 25 36 71
Nkh 56 24 25 73
Hyperglycinemia, Nonketotic 56 25 43
Hyperglycinemia Nonketotic 52 54
Gce 56 73
Infantile Non-Ketotic Hyperglycinemia 58
Neonatal Non-Ketotic Hyperglycinemia 58
Hyperglycinemia, Nonketotic; Nkh 56
Infantile Glycine Encephalopathy 58
Neonatal Glycine Encephalopathy 58
Classic Glycine Encephalopathy 58
Glycine Synthase Deficiency 52
Encephalopathy, Glycine 39
Infantile Nkh 58
Neonatal Nkh 58
Nka 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
glycine encephalopathy:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Glycine Encephalopathy

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. The most common form of glycine encephalopathy, called the classical type, appears shortly after birth. Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females. Researchers have identified several other types of glycine encephalopathy with variable signs and symptoms. The most common of these atypical types is called the infantile form. Children with this condition develop normally until they are about 6 months old, when they experience delayed development and may begin having seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood and cause a variety of medical problems that primarily affect the nervous system. Rarely, the characteristic features of classical glycine encephalopathy improve with time. These cases are classified as transient glycine encephalopathy. In this form of the condition, glycine levels decrease to normal or near-normal after being very high at birth. Many children with temporarily high glycine levels go on to develop normally and experience few long-term medical problems. Intellectual disability and seizures occur in some affected individuals, however, even after glycine levels decrease.

MalaCards based summary : Glycine Encephalopathy, also known as non-ketotic hyperglycinemia, is related to atypical glycine encephalopathy and multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 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 Ligand-gated ion channel transport. 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 central hypotonia

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

NIH Rare Diseases : 52 Glycine encephalopathy is an inherited metabolic 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.

KEGG : 36 Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic dysfunctions.

UniProtKB/Swiss-Prot : 73 Non-ketotic hyperglycinemia: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.

Wikipedia : 74 Glycine encephalopathy is a rare autosomal recessive disorder of glycine metabolism. After... more...

More information 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 top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 atypical glycine encephalopathy 34.4 SLC6A9 GLDC GCSH AMT
2 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 32.5 LIAS IBA57 BOLA3
3 propionic acidemia 31.1 MYBPH GLDC GCSH
4 lactic acidosis 30.9 LIPT1 LIAS IBA57 BOLA3
5 autosomal recessive disease 30.8 PRODH GLDC GCSH AMT
6 hyperekplexia 30.1 SLC6A9 SLC6A5 GLRB GLRA4 GLRA2
7 glycine encephalopathy with normal serum glycine 12.8
8 lipoic acid biosynthesis defects 11.5
9 hyperglycinemia, lactic acidosis, and seizures 11.2
10 spasticity, childhood-onset, with hyperglycinemia 11.2
11 encephalopathy 10.6
12 multiple mitochondrial dysfunctions syndrome 10.6 IBA57 BOLA3
13 cutis laxa, autosomal dominant 3 10.6 GCSH AMT
14 carbonic anhydrase va deficiency, hyperammonemia due to 10.6
15 histidine metabolism disease 10.5 PRODH GCSH AMT
16 histidinemia 10.5 PRODH GCSH AMT
17 hyperekplexia 2 10.5 SLC6A5 GLRB
18 hyperekplexia 3 10.5 SLC6A5 GLRB
19 hyperekplexia 1 10.5 SLC6A5 GLRB
20 cerebral creatine deficiency syndrome 1 10.5 SUOX SLC6A5
21 hyperlysinemia, type i 10.5 SUOX PRODH
22 serine deficiency 10.4 SUOX PNPO
23 gamma-amino butyric acid metabolism disorder 10.4 PRODH ABAT
24 cerebral creatine deficiency syndrome 10.4 SUOX PNPO
25 cerebral creatine deficiency syndrome 2 10.4 SUOX PNPO
26 alacrima, achalasia, and mental retardation syndrome 10.4
27 cystathioninuria 10.4 PRODH PRICKLE4
28 3-methylglutaconic aciduria, type iii 10.4
29 phosphoserine aminotransferase deficiency 10.4 SUOX PNPO
30 stiff-person syndrome 10.4 GLRB GLRA4 GLRA2
31 multiple mitochondrial dysfunctions syndrome 4 10.4 LIAS IBA57 GLRX5 BOLA3
32 amnestic disorder 10.4 GLRB GLRA4 GLRA2
33 multiple mitochondrial dysfunctions syndrome 3 10.4 LIAS IBA57 GLRX5 BOLA3
34 anemia, sideroblastic, and spinocerebellar ataxia 10.4 IBA57 GLRX5
35 multiple mitochondrial dysfunctions syndrome 1 10.4 LIAS IBA57 GLRX5 BOLA3
36 cutis laxa, autosomal dominant 1 10.3 OCA2 MYBPH GLDC GCSH AMT
37 pyruvate dehydrogenase e1-alpha deficiency 10.3 SUOX LIPT1 IBA57 BOLA3
38 purine-pyrimidine metabolic disorder 10.3 SUOX PRODH
39 hypotonia 10.3
40 t-cell large granular lymphocyte leukemia 10.3
41 lymphocytic leukemia 10.3
42 hyperglycinuria 10.3
43 scoliosis 10.3
44 spastic diplegia 10.3
45 pathologic nystagmus 10.3
46 neural tube defects 10.2
47 leigh syndrome 10.2
48 epilepsy, pyridoxine-dependent 10.2
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 epileptic encephalopathy, early infantile, 3 10.2

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent singultus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100247
2 central hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011398
3 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
4 abnormal metabolic brain imaging by mrs 58 31 hallmark (90%) Very frequent (99-80%) HP:0012705
5 eeg with burst suppression 58 31 hallmark (90%) Very frequent (99-80%) HP:0010851
6 hyperglycinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002154
7 generalized myoclonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002123
8 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
9 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
10 breathing dysregulation 58 31 frequent (33%) Frequent (79-30%) HP:0005957
11 respiratory acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0005972
12 seizures 58 31 Very frequent (99-80%) HP:0001250
13 agenesis of corpus callosum 31 HP:0001274
14 intellectual disability 31 HP:0001249
15 hyperreflexia 31 HP:0001347
16 eeg abnormality 58 Very frequent (99-80%)
17 muscular hypotonia 31 HP:0001252
18 myoclonus 31 HP:0001336
19 hyperactivity 31 HP:0000752
20 generalized hypotonia 31 HP:0001290
21 irritability 31 HP:0000737
22 aggressive behavior 31 HP:0000718
23 hyporeflexia 31 HP:0001265
24 impulsivity 31 HP:0100710
25 encephalopathy 31 HP:0001298
26 restlessness 31 HP:0000711
27 hyperglycinuria 31 HP:0003108

Symptoms via clinical synopsis from OMIM:

56
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:
hyperactivity
irritability
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:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.8 SUOX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.8 MYBPH SLC6A9 SUOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.8 SUOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.8 SLC6A9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.8 SUOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.8 PRICKLE4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.8 SUOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.8 PRICKLE4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.8 MYBPH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.8 MYBPH PRICKLE4 SLC6A9 SUOX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.8 MYBPH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.8 MYBPH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.8 PRICKLE4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.8 SUOX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.8 MYBPH
16 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.8 SUOX
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.8 SLC6A9
18 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.8 SUOX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.8 SLC6A9
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.8 SLC6A9
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.8 SLC6A9
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.8 PRICKLE4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.8 SUOX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.8 SUOX
25 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.8 MYBPH

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 5360696 5362449
3 Neurotransmitter Agents Phase 2
4 Respiratory System Agents Phase 2
5 Antitussive Agents Phase 2
6 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
7 Excitatory Amino Acid Antagonists 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 29 AMT GCSH GLDC

Anatomical Context for Glycine Encephalopathy

MalaCards organs/tissues related to Glycine Encephalopathy:

40
Brain, Eye, Testes, Liver, Breast, Skin, Cortex

Publications for Glycine Encephalopathy

Articles related to Glycine Encephalopathy:

(show top 50) (show all 245)
# Title Authors PMID Year
1
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. 54 61 24 56 6
15864413 2005
2
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. 61 24 56 6
11592811 2001
3
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. 24 56 6
28462797 2017
4
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. 54 61 56 6
15851735 2005
5
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. 24 56 6
15236413 2004
6
Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. 54 56 6
15824356 2005
7
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). 56 6
20949620 2010
8
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. 61 24 56
16404748 2006
9
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). 61 24 56
12948742 2003
10
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). 54 24 6
11286506 2001
11
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. 54 24 6
10798358 2000
12
Acute hydrocephalus in nonketotic hyperglycinemia. 61 24 56
10680820 2000
13
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. 56 6
4434100 1974
14
Using whole-exome sequencing to identify inherited causes of autism. 24 56
23352163 2013
15
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 24 6
10873393 2000
16
Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses. 24 56
10820402 2000
17
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. 24 6
1634607 1992
18
Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. 61 56
17207649 2007
19
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. 54 6
11139253 2001
20
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. 61 56
8585564 1995
21
The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. 54 6
1671321 1991
22
Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein. 61 6
6790577 1981
23
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. 61 24
24334290 2014
24
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. 61 24
22261077 2012
25
Prediction of long-term outcome in glycine encephalopathy: a clinical survey. 61 24
22002442 2012
26
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test. 61 24
16634033 2006
27
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 54 24
16450403 2006
28
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. 61 24
16551461 2006
29
Natural history of nonketotic hyperglycinemia in 65 patients. 61 24
15557500 2004
30
Nonketotic Hyperglycinemia 6
20301531 2002
31
Pulmonary hypertension associated with nonketotic hyperglycinaemia. 56
10801055 2000
32
Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. 56
10682305 2000
33
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations. 56
10451514 1999
34
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. 6
9600239 1998
35
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. 6
9621520 1998
36
Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia. 56
7885541 1994
37
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. 6
8005589 1994
38
Prenatal diagnosis of non-ketotic hyperglycinaemia: experience in 50 at-risk pregnancies. 56
7807948 1994
39
Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant. 56
1385627 1992
40
Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi. 56
2308039 1990
41
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. 56
3585602 1987
42
Non-ketotic hyperglycinaemia: clinical and biochemical aspects. 56
3297708 1987
43
Non-ketotic hyperglycinaemia due to a deficiency of T-protein in the glycine cleavage system in liver and brain. 56
3091926 1986
44
Juvenile non-ketotic hyperglycinaemia in three siblings. 56
3930859 1985
45
Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. 56
6336599 1983
46
Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia. 56
6683804 1983
47
Nonketotic hyperglycinemia. A genetic study of 13 Finnish families. 6
445864 1979
48
Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays. 56
80128 1978
49
Non-ketotic hyperglycinaemia in a family with an unusual phenotype. 56
116082 1978
50
Valine-sensitive nonketotic hyperglycinemia. Case report. 56
4855367 1974

Variations for Glycine Encephalopathy

ClinVar genetic disease variations for Glycine Encephalopathy:

6 (show top 50) (show all 470) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMT NM_000481.3(AMT):c.870G>A (p.Trp290Ter)SNV Pathogenic 208562 rs797045082 3:49456411-49456411 3:49418978-49418978
2 GCSH GCSH, COMPLEX REARRANGEMENT (1 patient)undetermined variant Pathogenic 11973
3 AMT NM_000481.3(AMT):c.806G>A (p.Gly269Asp)SNV Pathogenic 11974 rs121964981 3:49456475-49456475 3:49419042-49419042
4 AMT NM_000481.3(AMT):c.125A>G (p.His42Arg)SNV Pathogenic 11976 rs121964983 3:49459670-49459670 3:49422237-49422237
5 AMT AMT, 1-BP DEL, 183Cdeletion Pathogenic 11977
6 AMT NM_000481.3(AMT):c.959G>A (p.Arg320His)SNV Pathogenic 11979 rs121964985 3:49455325-49455325 3:49417892-49417892
7 AMT NM_000481.3(AMT):c.878-1G>ASNV Pathogenic 11981 rs181134220 3:49455407-49455407 3:49417974-49417974
8 GLDC NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile)SNV Pathogenic 11982 rs121964974 9:6588417-6588417 9:6588417-6588417
9 GLDC GLDC, 30-KB DELdeletion Pathogenic 11984
10 GLDC NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser)SNV Pathogenic 11985 rs121964976 9:6589230-6589230 9:6589230-6589230
11 GLDC NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg)SNV Pathogenic 11986 rs386833549 9:6554703-6554703 9:6554703-6554703
12 GLDC NM_000170.2(GLDC):c.2405C>T (p.Ala802Val)SNV Pathogenic 11987 rs121964977 9:6553420-6553420 9:6553420-6553420
13 GLDC NM_000170.2(GLDC):c.2T>C (p.Met1Thr)SNV Pathogenic 11988 rs121964978 9:6645498-6645498 9:6645498-6645498
14 GLDC NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter)SNV Pathogenic 56036 rs386833517 9:6604637-6604637 9:6604637-6604637
15 GLDC GLDC, 2607C-ASNV Pathogenic 11991
16 GLDC NM_000170.2(GLDC):c.1654A>G (p.Met552Val)SNV Pathogenic 56048 rs386833529 9:6588629-6588629 9:6588629-6588629
17 GLDC NM_000170.2(GLDC):c.2186del (p.Ala729fs)deletion Pathogenic 56062 rs386833543 9:6556169-6556169 9:6556169-6556169
18 GLDC NM_000170.2(GLDC):c.2203-2A>GSNV Pathogenic 56064 rs386833545 9:6554783-6554783 9:6554783-6554783
19 GLDC NM_000170.2(GLDC):c.2316-1G>ASNV Pathogenic 56073 rs386833554 9:6553510-6553510 9:6553510-6553510
20 GLDC NM_000170.2(GLDC):c.2607C>A (p.Pro869=)SNV Pathogenic 56084 rs386833565 9:6540109-6540109 9:6540109-6540109
21 GLDC NM_000170.2(GLDC):c.2919+1G>ASNV Pathogenic 56093 rs386833575 9:6534707-6534707 9:6534707-6534707
22 AMT NM_001164710.2(AMT):c.340-442_340-428deldeletion Pathogenic 56232 rs386833683 3:49457649-49457663 3:49420216-49420230
23 AMT NM_000481.3(AMT):c.471+2T>CSNV Pathogenic 56233 rs386833684 3:49457642-49457642 3:49420209-49420209
24 GLDC NM_000170.2(GLDC):c.499G>T (p.Glu167Ter)SNV Pathogenic 370365 rs191905539 9:6610328-6610328 9:6610328-6610328
25 GLDC NM_000170.2(GLDC):c.2544C>G (p.Tyr848Ter)SNV Pathogenic 437461 rs1554643354 9:6550828-6550828 9:6550828-6550828
26 GLDC NC_000009.11:g.(?_6565334)_(6565449_?)dupduplication Pathogenic 462849 9:6565334-6565449 9:6565334-6565449
27 GLDC NM_000170.2(GLDC):c.1580+2T>GSNV Pathogenic 462856 rs1554646710 9:6589193-6589193 9:6589193-6589193
28 GLDC NC_000009.11:g.(?_6532997)_(6645519_?)deldeletion Pathogenic 462848 9:6532997-6645519 9:6532997-6645519
29 GLDC NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter)SNV Pathogenic 462875 rs1554643360 9:6550845-6550845 9:6550845-6550845
30 GLDC NC_000009.11:g.(?_6558539)_(6565449_?)deldeletion Pathogenic 531791 9:6558539-6565449 9:6558539-6565449
31 GLDC NC_000009.11:g.(?_6594994)_(6620339_?)deldeletion Pathogenic 531793 9:6594994-6620339 9:6594994-6620339
32 GLDC NM_000170.2(GLDC):c.1145G>A (p.Cys382Tyr)SNV Pathogenic 531778 rs759133707 9:6602119-6602119 9:6602119-6602119
33 AMT NM_000481.3(AMT):c.1033+2T>CSNV Pathogenic 551739 rs1553638247 3:49455249-49455249 3:49417816-49417816
34 GLDC NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter)SNV Pathogenic 554522 rs751025203 9:6565392-6565392 9:6565392-6565392
35 GLDC NM_000170.2(GLDC):c.334+1G>TSNV Pathogenic 557987 rs978795483 9:6644613-6644613 9:6644613-6644613
36 AMT NM_000481.3(AMT):c.164G>A (p.Trp55Ter)SNV Pathogenic 565538 rs1559530507 3:49459631-49459631 3:49422198-49422198
37 GLDC NM_000170.2(GLDC):c.2278dup (p.His760fs)duplication Pathogenic 565866 rs1563834980 9:6554705-6554706 9:6554705-6554706
38 GLDC NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138fs)insertion Pathogenic 583199 rs1563864784 9:6620242-6620243 9:6620242-6620243
39 AMT NM_032316.3(NICN1):c.*2400_*2401TG[1]short repeat Pathogenic 623331 3:49459863-49459864 3:49422430-49422431
40 GLDC NM_000170.2(GLDC):c.24G>A (p.Trp8Ter)SNV Pathogenic 553731 rs1163356968 9:6645476-6645476 9:6645476-6645476
41 GLDC NM_000170.2(GLDC):c.1337del (p.Val446fs)deletion Pathogenic 635297 9:6592915-6592915 9:6592915-6592915
42 AMT NM_000481.3(AMT):c.886C>T (p.Arg296Cys)SNV Pathogenic 656955 3:49455398-49455398 3:49417965-49417965
43 AMT NM_000481.3(AMT):c.256C>T (p.Gln86Ter)SNV Pathogenic 660464 3:49459539-49459539 3:49422106-49422106
44 GLDC NM_000170.2(GLDC):c.2714T>G (p.Val905Gly)SNV Pathogenic 639955 9:6536188-6536188 9:6536188-6536188
45 GLDC NM_000170.3(GLDC):c.1629del (p.Asn543fs)deletion Pathogenic 657819 9:6588654-6588654 9:6588654-6588654
46 GLDC NM_000170.2(GLDC):c.538C>T (p.Gln180Ter)SNV Pathogenic 650449 9:6610289-6610289 9:6610289-6610289
47 GLDC NC_000009.11:g.(?_6644604)_(6645509_?)deldeletion Pathogenic 659612 9:6644604-6645509 9:6644604-6645509
48 GLDC NC_000009.11:g.(?_6550793)_(6610366_?)deldeletion Pathogenic 640451 9:6550793-6610366 9:6550793-6610366
49 GLDC NC_000009.11:g.(?_6610172)_(6645519_?)deldeletion Pathogenic 662293 9:6610172-6645519 9:6610172-6645519
50 GLDC NC_000009.11:g.(?_6644594)_(6645519_?)deldeletion Pathogenic 643709 9:6644594-6645519 9:6644594-6645519

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

73 (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 rs155464811
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

Copy number variations for Glycine Encephalopathy from CNVD:

7
# CNVD ID Chromosome 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:

36
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260

GO Terms for Glycine Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.9 SUOX PRODH LIPT1 LIAS IBA57 GLRX5
2 chloride channel complex GO:0034707 9.5 GLRB GLRA4 GLRA2
3 mitochondrial matrix GO:0005759 9.32 SUOX PRODH LIPT1 LIAS IBA57 GLRX5
4 glycine cleavage complex GO:0005960 9.26 GLDC GCSH
5 glycinergic synapse GO:0098690 9.26 SLC6A5 GLRB GLRA4 GLRA2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.95 SUOX PRODH PNPO GLRX5 GLDC
2 chemical synaptic transmission GO:0007268 9.8 SLC6A5 GLRB GLRA4 GLRA2
3 regulation of membrane potential GO:0042391 9.71 GLRB GLRA4 GLRA2
4 neuropeptide signaling pathway GO:0007218 9.7 GLRB GLRA4 GLRA2
5 chloride transmembrane transport GO:1902476 9.69 GLRB GLRA4 GLRA2
6 chloride transport GO:0006821 9.65 GLRB GLRA4 GLRA2
7 excitatory postsynaptic potential GO:0060079 9.58 GLRB GLRA4 GLRA2
8 nervous system process GO:0050877 9.54 GLRB GLRA4 GLRA2
9 response to amino acid GO:0043200 9.5 GLRB GLRA4 GLRA2
10 cellular nitrogen compound metabolic process GO:0034641 9.46 LIPT1 LIAS
11 glycine transport GO:0015816 9.43 SLC6A9 SLC6A5
12 glycine decarboxylation via glycine cleavage system GO:0019464 9.43 GLDC GCSH AMT
13 glycine catabolic process GO:0006546 9.33 GLDC GCSH AMT
14 protein lipoylation GO:0009249 9.26 LIPT1 LIAS GLRX5 GCSH
15 synaptic transmission, glycinergic GO:0060012 8.92 SLC6A5 GLRB GLRA4 GLRA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.7 GLRB GLRA4 GLRA2
2 chloride channel activity GO:0005254 9.63 GLRB GLRA4 GLRA2
3 iron-sulfur cluster binding GO:0051536 9.61 LIAS GLRX5 ABAT
4 pyridoxal phosphate binding GO:0030170 9.58 PNPO GLDC ABAT
5 extracellular ligand-gated ion channel activity GO:0005230 9.54 GLRB GLRA4 GLRA2
6 transaminase activity GO:0008483 9.51 AMT ABAT
7 neurotransmitter:sodium symporter activity GO:0005328 9.49 SLC6A9 SLC6A5
8 glycine transmembrane transporter activity GO:0015187 9.48 SLC6A9 SLC6A5
9 transmitter-gated ion channel activity GO:0022824 9.32 GLRA4 GLRA2
10 glycine:sodium symporter activity GO:0015375 9.26 SLC6A9 SLC6A5
11 aminomethyltransferase activity GO:0004047 9.16 GCSH AMT
12 extracellularly glycine-gated chloride channel activity GO:0016934 9.13 GLRB GLRA4 GLRA2
13 glycine binding GO:0016594 8.92 GLRB GLRA4 GLRA2 GLDC

Sources for Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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