GCENSG
MCID: GLY094
MIFTS: 20

Glycine Encephalopathy with Normal Serum Glycine (GCENSG)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Glycine Encephalopathy with Normal Serum Glycine

MalaCards integrated aliases for Glycine Encephalopathy with Normal Serum Glycine:

Name: Glycine Encephalopathy with Normal Serum Glycine 58 76 30 6
Gcensg 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
early death may occur
three unrelated families have been reported (last curated january 2017)


HPO:

33
glycine encephalopathy with normal serum glycine:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycine Encephalopathy with Normal Serum Glycine

OMIM : 58 Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE; 605899) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016). (617301)

MalaCards based summary : Glycine Encephalopathy with Normal Serum Glycine, is also known as gcensg. An important gene associated with Glycine Encephalopathy with Normal Serum Glycine is SLC6A9 (Solute Carrier Family 6 Member 9). Affiliated tissues include brain, and related phenotypes are microcephaly and optic atrophy

UniProtKB/Swiss-Prot : 76 Glycine encephalopathy with normal serum glycine: An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy.

Related Diseases for Glycine Encephalopathy with Normal Serum Glycine

Symptoms & Phenotypes for Glycine Encephalopathy with Normal Serum Glycine

Human phenotypes related to Glycine Encephalopathy with Normal Serum Glycine:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 optic atrophy 33 occasional (7.5%) HP:0000648
3 low-set ears 33 HP:0000369
4 ptosis 33 HP:0000508
5 dysphagia 33 HP:0002015
6 clonus 33 HP:0002169
7 global developmental delay 33 HP:0001263
8 depressed nasal bridge 33 HP:0005280
9 anteverted nares 33 HP:0000463
10 hypertonia 33 HP:0001276
11 retrognathia 33 HP:0000278
12 dolichocephaly 33 HP:0000268
13 genu recurvatum 33 HP:0002816
14 elbow flexion contracture 33 HP:0002987
15 apnea 33 HP:0002104
16 ventriculomegaly 33 HP:0002119
17 arthrogryposis multiplex congenita 33 HP:0002804
18 joint laxity 33 HP:0001388
19 talipes equinovarus 33 HP:0001762
20 hip dislocation 33 HP:0002827
21 exaggerated startle response 33 HP:0002267
22 trigonocephaly 33 HP:0000243
23 respiratory failure 33 HP:0002878
24 long eyelashes 33 HP:0000527
25 hip contracture 33 HP:0003273
26 myopathic facies 33 HP:0002058
27 encephalopathy 33 HP:0001298
28 hypoplasia of the corpus callosum 33 HP:0002079
29 hand clenching 33 HP:0001188
30 muscular hypotonia of the trunk 33 HP:0008936
31 overlapping toe 33 HP:0001845
32 fetal distress 33 HP:0025116

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Muscle Soft Tissue:
hypertonia
hypotonia, profound, neonatal

Skeletal:
arthrogryposis multiplex congenita
joint laxity

Head And Neck Head:
trigonocephaly
microcephaly (in some patients)

Head And Neck Eyes:
optic atrophy (in some patients)

Skeletal Limbs:
elbow contractures
hyperextension of the knees

Abdomen Gastrointestinal:
swallowing difficulties

Prenatal Manifestations:
nuchal translucency

Respiratory:
lack of respiratory drive, neonatal
apnea, recurrent

Head And Neck Nose:
depressed nasal bridge
upturned nose

Head And Neck Face:
retrognathia
myopathic facies

Skeletal Pelvis:
hip dislocation
hip contractures

Neurologic Central Nervous System:
encephalopathy
delayed psychomotor development
dilated ventricles
thin corpus callosum (in some patients)
hyperekplexia
more
Skeletal Feet:
foot deformities
club feet

Head And Neck Mouth:
tent-shaped mouth

Skeletal Hands:
clenched fists

Laboratory Abnormalities:
increased csf glycine
normal serum glycine
mildly increased serum glycine (1 patient)
increased urinary glycine
increased csf-to-plasma glycine ratio

Clinical features from OMIM:

617301

Drugs & Therapeutics for Glycine Encephalopathy with Normal Serum Glycine

Search Clinical Trials , NIH Clinical Center for Glycine Encephalopathy with Normal Serum Glycine

Genetic Tests for Glycine Encephalopathy with Normal Serum Glycine

Genetic tests related to Glycine Encephalopathy with Normal Serum Glycine:

# Genetic test Affiliating Genes
1 Glycine Encephalopathy with Normal Serum Glycine 30 SLC6A9

Anatomical Context for Glycine Encephalopathy with Normal Serum Glycine

MalaCards organs/tissues related to Glycine Encephalopathy with Normal Serum Glycine:

42
Brain

Publications for Glycine Encephalopathy with Normal Serum Glycine

Articles related to Glycine Encephalopathy with Normal Serum Glycine:

# Title Authors Year
1
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( 27773429 )
2016
2
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. ( 27481395 )
2016

Variations for Glycine Encephalopathy with Normal Serum Glycine

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

76
# Symbol AA change Variation ID SNP ID
1 SLC6A9 p.Ser407Gly VAR_078074 rs105751931

ClinVar genetic disease variations for Glycine Encephalopathy with Normal Serum Glycine:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A9 NM_201649.3(SLC6A9): c.1219A> G (p.Ser407Gly) single nucleotide variant Pathogenic rs1057519313 GRCh38 Chromosome 1, 44001590: 44001590
2 SLC6A9 NM_201649.3(SLC6A9): c.1219A> G (p.Ser407Gly) single nucleotide variant Pathogenic rs1057519313 GRCh37 Chromosome 1, 44467262: 44467262
3 SLC6A9 NM_201649.3(SLC6A9): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic rs1057519314 GRCh37 Chromosome 1, 44466477: 44466477
4 SLC6A9 NM_201649.3(SLC6A9): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic rs1057519314 GRCh38 Chromosome 1, 44000805: 44000805
5 SLC6A9 NM_201649.3(SLC6A9): c.928_932delAAGTC (p.Lys310Phefs) deletion Pathogenic rs1057519315 GRCh37 Chromosome 1, 44468535: 44468539
6 SLC6A9 NM_201649.3(SLC6A9): c.928_932delAAGTC (p.Lys310Phefs) deletion Pathogenic rs1057519315 GRCh38 Chromosome 1, 44002863: 44002867
7 SLC6A9 NM_201649.3(SLC6A9): c.1179C> T (p.Tyr393=) single nucleotide variant Benign rs61733181 GRCh38 Chromosome 1, 44002315: 44002315
8 SLC6A9 NM_201649.3(SLC6A9): c.1179C> T (p.Tyr393=) single nucleotide variant Benign rs61733181 GRCh37 Chromosome 1, 44467987: 44467987
9 SLC6A9 NM_201649.3(SLC6A9): c.1756-6G> A single nucleotide variant Benign rs113184612 GRCh37 Chromosome 1, 44463703: 44463703
10 SLC6A9 NM_201649.3(SLC6A9): c.1756-6G> A single nucleotide variant Benign rs113184612 GRCh38 Chromosome 1, 43998031: 43998031
11 SLC6A9 NM_201649.3(SLC6A9): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 44002538: 44002538
12 SLC6A9 NM_201649.3(SLC6A9): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 44468210: 44468210

Expression for Glycine Encephalopathy with Normal Serum Glycine

Search GEO for disease gene expression data for Glycine Encephalopathy with Normal Serum Glycine.

Pathways for Glycine Encephalopathy with Normal Serum Glycine

GO Terms for Glycine Encephalopathy with Normal Serum Glycine

Sources for Glycine Encephalopathy with Normal Serum Glycine

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