MCID: GLY094
MIFTS: 33

Glycine Encephalopathy with Normal Serum Glycine

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare 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
Atypical Non-Ketotic Hyperglycinemia 59
Atypical Glycine Encephalopathy 59
Atypical Nka 59
Gcensg 75

Characteristics:

Orphanet epidemiological data:

59
atypical glycine encephalopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

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, also known as atypical non-ketotic hyperglycinemia, is related to glycine encephalopathy and encephalopathy. An important gene associated with Glycine Encephalopathy with Normal Serum Glycine is SLC6A9 (Solute Carrier Family 6 Member 9), and among its related pathways/superpathways are Carbon metabolism and Glycine, serine and threonine metabolism. Affiliated tissues include brain, and related phenotypes are trigonocephaly and microcephaly

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

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

# Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 26.5 AMT GCSH GLDC SLC6A9
2 encephalopathy 9.8
3 autosomal recessive disease 8.9 AMT GLDC
4 neonatal glycine encephalopathy 8.6 AMT GCSH GLDC
5 infantile glycine encephalopathy 8.1 AMT GCSH GLDC SLC6A9

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



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

Articles related to Glycine Encephalopathy with Normal Serum Glycine:

# Title Authors Year
1
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. ( 19299230 )
2009

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 rs1057519313Glycine

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

6
# 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 GRCh37 Chromosome 1, 44467987: 44467987
8 SLC6A9 NM_201649.3(SLC6A9): c.1179C> T (p.Tyr393=) single nucleotide variant Benign rs61733181 GRCh38 Chromosome 1, 44002315: 44002315
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

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

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.33 AMT GCSH GLDC
2 mitochondrial matrix GO:0005759 9.13 AMT GCSH GLDC
3 glycine cleavage complex GO:0005960 8.62 GCSH GLDC

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

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.16 AMT GCSH
2 glycine decarboxylation via glycine cleavage system GO:0019464 9.13 AMT GCSH GLDC
3 glycine catabolic process GO:0006546 8.8 AMT GCSH GLDC

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

# Name GO ID Score Top Affiliating Genes
1 aminomethyltransferase activity GO:0004047 8.62 AMT GCSH

Sources for Glycine Encephalopathy with Normal Serum Glycine

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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