GCENSG
MCID: GLY094
MIFTS: 19

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 57 75 29 6
Gcensg 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 57 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 low-set ears and ptosis

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Muscle Soft Tissue:
hypertonia
hypotonia, profound, neonatal

Skeletal:
arthrogryposis multiplex congenita
joint laxity

Neurologic Central Nervous System:
encephalopathy
delayed psychomotor development
dilated ventricles
thin corpus callosum (in some patients)
hyperekplexia
more
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

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

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

Human phenotypes related to Glycine Encephalopathy with Normal Serum Glycine:

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

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 29 SLC6A9

Anatomical Context for Glycine Encephalopathy with Normal Serum Glycine

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

41
Brain

Publications for Glycine Encephalopathy with Normal Serum Glycine

Variations for Glycine Encephalopathy with Normal Serum Glycine

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

75
# 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 rs201437896 GRCh38 Chromosome 1, 44002538: 44002538
12 SLC6A9 NM_201649.3(SLC6A9): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs201437896 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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