MCID: GLT011
MIFTS: 25

Glutamine Deficiency, Congenital

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

Aliases & Classifications for Glutamine Deficiency, Congenital

MalaCards integrated aliases for Glutamine Deficiency, Congenital:

Name: Glutamine Deficiency, Congenital 57 53 75 29 13 6 40 73
Glutamine Synthase Deficiency, Congenital Systemic 57 75
Congenital Systemic Glutamine Deficiency 75 37
Congenital Brain Dysgenesis Due to Glutamine Synthetase Deficiency 59
Glutamine Synthetase Deficiency, Congenital Systemic 53
Inherited Glutamine Synthetase Deficiency 59
Congenital Glutamine Deficiency 53
Inherited Gs Deficiency 59
Csgd 75

Characteristics:

Orphanet epidemiological data:

59
congenital brain dysgenesis due to glutamine synthetase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset as neonate
three patients have been reported
death in infancy in 2 patients
variable severity of brain malformations


HPO:

32
glutamine deficiency, congenital:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glutamine Deficiency, Congenital

OMIM : 57 Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011). (610015)

MalaCards based summary : Glutamine Deficiency, Congenital, is also known as glutamine synthase deficiency, congenital systemic, and has symptoms including apnea and seizures. An important gene associated with Glutamine Deficiency, Congenital is GLUL (Glutamate-Ammonia Ligase), and among its related pathways/superpathways are Alanine, aspartate and glutamate metabolism and Arginine biosynthesis. Affiliated tissues include brain, skin and cerebellum, and related phenotypes are low-set ears and brain atrophy

UniProtKB/Swiss-Prot : 75 Congenital systemic glutamine deficiency: Rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid.

Related Diseases for Glutamine Deficiency, Congenital

Symptoms & Phenotypes for Glutamine Deficiency, Congenital

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Respiratory:
respiratory insufficiency
apnea

Cardiovascular Heart:
bradycardia

Skeletal:
contractures (1 patient)

Skin Nails Hair Skin:
blistering erythematous rash

Neurologic Central Nervous System:
brain atrophy
seizures
hyperreflexia
ventriculomegaly
encephalopathy
more
Laboratory Abnormalities:
hyperammonemia
decreased glutamine in bodily fluids

Head And Neck Nose:
flat, broad nasal root

Skeletal Limbs:
micromelia (1 patient)

Skin Nails Hair Skin Histology:
necrotic epidermolysis


Clinical features from OMIM:

610015

Human phenotypes related to Glutamine Deficiency, Congenital:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 brain atrophy 32 HP:0012444
3 seizures 32 HP:0001250
4 hyperreflexia 32 HP:0001347
5 respiratory insufficiency 32 HP:0002093
6 depressed nasal bridge 32 HP:0005280
7 wide nasal bridge 32 HP:0000431
8 flexion contracture 32 occasional (7.5%) HP:0001371
9 micromelia 32 occasional (7.5%) HP:0002983
10 severe global developmental delay 32 HP:0011344
11 apnea 32 HP:0002104
12 ventriculomegaly 32 HP:0002119
13 skin rash 32 HP:0000988
14 hyperammonemia 32 HP:0001987
15 encephalopathy 32 HP:0001298
16 hypoplasia of the corpus callosum 32 HP:0002079
17 generalized hypotonia 32 HP:0001290
18 cns hypomyelination 32 HP:0003429
19 bradycardia 32 HP:0001662
20 periventricular cysts 32 HP:0007109
21 subependymal cysts 32 HP:0002416

UMLS symptoms related to Glutamine Deficiency, Congenital:


apnea, seizures

Drugs & Therapeutics for Glutamine Deficiency, Congenital

Search Clinical Trials , NIH Clinical Center for Glutamine Deficiency, Congenital

Genetic Tests for Glutamine Deficiency, Congenital

Genetic tests related to Glutamine Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Glutamine Deficiency, Congenital 29 GLUL

Anatomical Context for Glutamine Deficiency, Congenital

MalaCards organs/tissues related to Glutamine Deficiency, Congenital:

41
Brain, Skin, Cerebellum

Publications for Glutamine Deficiency, Congenital

Articles related to Glutamine Deficiency, Congenital:

# Title Authors Year
1
Congenital glutamine deficiency with glutamine synthetase mutations. ( 16267323 )
2005

Variations for Glutamine Deficiency, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Glutamine Deficiency, Congenital:

75
# Symbol AA change Variation ID SNP ID
1 GLUL p.Arg324Cys VAR_026560 rs80358214
2 GLUL p.Arg341Cys VAR_026561 rs80358215

ClinVar genetic disease variations for Glutamine Deficiency, Congenital:

6
(show top 50) (show all 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLUL NM_002065.6(GLUL): c.970C> T (p.Arg324Cys) single nucleotide variant Pathogenic rs80358214 GRCh37 Chromosome 1, 182353692: 182353692
2 GLUL NM_002065.6(GLUL): c.970C> T (p.Arg324Cys) single nucleotide variant Pathogenic rs80358214 GRCh38 Chromosome 1, 182384557: 182384557
3 GLUL NM_002065.6(GLUL): c.1021C> T (p.Arg341Cys) single nucleotide variant Pathogenic rs80358215 GRCh37 Chromosome 1, 182353641: 182353641
4 GLUL NM_002065.6(GLUL): c.1021C> T (p.Arg341Cys) single nucleotide variant Pathogenic rs80358215 GRCh38 Chromosome 1, 182384506: 182384506
5 GLUL NM_002065.6(GLUL): c.970C> A (p.Arg324Ser) single nucleotide variant Pathogenic rs80358214 GRCh37 Chromosome 1, 182353692: 182353692
6 GLUL NM_002065.6(GLUL): c.970C> A (p.Arg324Ser) single nucleotide variant Pathogenic rs80358214 GRCh38 Chromosome 1, 182384557: 182384557
7 GLUL NM_002065.6(GLUL): c.*2074dupG duplication Uncertain significance rs111775366 GRCh37 Chromosome 1, 182351466: 182351466
8 GLUL NM_002065.6(GLUL): c.*2021G> T single nucleotide variant Likely benign rs16858921 GRCh38 Chromosome 1, 182382384: 182382384
9 GLUL NM_002065.6(GLUL): c.*2021G> T single nucleotide variant Likely benign rs16858921 GRCh37 Chromosome 1, 182351519: 182351519
10 GLUL NM_002065.6(GLUL): c.*1958G> A single nucleotide variant Uncertain significance rs79056692 GRCh37 Chromosome 1, 182351582: 182351582
11 GLUL NM_002065.6(GLUL): c.*1958G> A single nucleotide variant Uncertain significance rs79056692 GRCh38 Chromosome 1, 182382447: 182382447
12 GLUL NM_002065.6(GLUL): c.*2644G> C single nucleotide variant Benign rs2296523 GRCh37 Chromosome 1, 182350896: 182350896
13 GLUL NM_002065.6(GLUL): c.*2644G> C single nucleotide variant Benign rs2296523 GRCh38 Chromosome 1, 182381761: 182381761
14 GLUL NM_002065.6(GLUL): c.*2463C> A single nucleotide variant Uncertain significance rs886045600 GRCh37 Chromosome 1, 182351077: 182351077
15 GLUL NM_002065.6(GLUL): c.*2463C> A single nucleotide variant Uncertain significance rs886045600 GRCh38 Chromosome 1, 182381942: 182381942
16 GLUL NM_002065.6(GLUL): c.*2313C> T single nucleotide variant Uncertain significance rs886045601 GRCh38 Chromosome 1, 182382092: 182382092
17 GLUL NM_002065.6(GLUL): c.*2313C> T single nucleotide variant Uncertain significance rs886045601 GRCh37 Chromosome 1, 182351227: 182351227
18 GLUL NM_002065.6(GLUL): c.*2307C> T single nucleotide variant Benign rs2296521 GRCh37 Chromosome 1, 182351233: 182351233
19 GLUL NM_002065.6(GLUL): c.*2307C> T single nucleotide variant Benign rs2296521 GRCh38 Chromosome 1, 182382098: 182382098
20 GLUL NM_002065.6(GLUL): c.*2130T> A single nucleotide variant Uncertain significance rs886045602 GRCh38 Chromosome 1, 182382275: 182382275
21 GLUL NM_002065.6(GLUL): c.*2130T> A single nucleotide variant Uncertain significance rs886045602 GRCh37 Chromosome 1, 182351410: 182351410
22 GLUL NM_002065.6(GLUL): c.*2074dupG duplication Uncertain significance rs111775366 GRCh38 Chromosome 1, 182382331: 182382331
23 GLUL NM_002065.6(GLUL): c.*1913A> T single nucleotide variant Benign rs4517308 GRCh38 Chromosome 1, 182382492: 182382492
24 GLUL NM_002065.6(GLUL): c.*1913A> T single nucleotide variant Benign rs4517308 GRCh37 Chromosome 1, 182351627: 182351627
25 GLUL NM_002065.6(GLUL): c.*1910_*1913delAAGAinsTCATTTAAGT indel Uncertain significance rs886045605 GRCh38 Chromosome 1, 182382492: 182382495
26 GLUL NM_002065.6(GLUL): c.*1910_*1913delAAGAinsTCATTTAAGT indel Uncertain significance rs886045605 GRCh37 Chromosome 1, 182351627: 182351630
27 GLUL NM_002065.6(GLUL): c.*1790C> T single nucleotide variant Uncertain significance rs886045606 GRCh38 Chromosome 1, 182382615: 182382615
28 GLUL NM_002065.6(GLUL): c.*1790C> T single nucleotide variant Uncertain significance rs886045606 GRCh37 Chromosome 1, 182351750: 182351750
29 GLUL NM_002065.6(GLUL): c.*1596G> A single nucleotide variant Uncertain significance rs779753907 GRCh38 Chromosome 1, 182382809: 182382809
30 GLUL NM_002065.6(GLUL): c.*1596G> A single nucleotide variant Uncertain significance rs779753907 GRCh37 Chromosome 1, 182351944: 182351944
31 GLUL NM_002065.6(GLUL): c.*1469_*1470delGT deletion Likely benign rs138636848 GRCh37 Chromosome 1, 182352070: 182352071
32 GLUL NM_002065.6(GLUL): c.*1469_*1470delGT deletion Likely benign rs138636848 GRCh38 Chromosome 1, 182382935: 182382936
33 GLUL NM_002065.6(GLUL): c.*1364G> A single nucleotide variant Likely benign rs115448180 GRCh37 Chromosome 1, 182352176: 182352176
34 GLUL NM_002065.6(GLUL): c.*1364G> A single nucleotide variant Likely benign rs115448180 GRCh38 Chromosome 1, 182383041: 182383041
35 GLUL NM_002065.6(GLUL): c.*1276C> T single nucleotide variant Uncertain significance rs143904819 GRCh37 Chromosome 1, 182352264: 182352264
36 GLUL NM_002065.6(GLUL): c.*1276C> T single nucleotide variant Uncertain significance rs143904819 GRCh38 Chromosome 1, 182383129: 182383129
37 GLUL NM_002065.6(GLUL): c.*1218G> A single nucleotide variant Uncertain significance rs549506269 GRCh37 Chromosome 1, 182352322: 182352322
38 GLUL NM_002065.6(GLUL): c.*1218G> A single nucleotide variant Uncertain significance rs549506269 GRCh38 Chromosome 1, 182383187: 182383187
39 GLUL NM_002065.6(GLUL): c.*981T> G single nucleotide variant Uncertain significance rs886045609 GRCh37 Chromosome 1, 182352559: 182352559
40 GLUL NM_002065.6(GLUL): c.*981T> G single nucleotide variant Uncertain significance rs886045609 GRCh38 Chromosome 1, 182383424: 182383424
41 GLUL NM_002065.6(GLUL): c.*922A> G single nucleotide variant Likely benign rs8762 GRCh37 Chromosome 1, 182352618: 182352618
42 GLUL NM_002065.6(GLUL): c.*922A> G single nucleotide variant Likely benign rs8762 GRCh38 Chromosome 1, 182383483: 182383483
43 GLUL NM_002065.6(GLUL): c.*919A> G single nucleotide variant Benign rs7734 GRCh37 Chromosome 1, 182352621: 182352621
44 GLUL NM_002065.6(GLUL): c.*919A> G single nucleotide variant Benign rs7734 GRCh38 Chromosome 1, 182383486: 182383486
45 GLUL NM_002065.6(GLUL): c.*850T> C single nucleotide variant Uncertain significance rs886045610 GRCh37 Chromosome 1, 182352690: 182352690
46 GLUL NM_002065.6(GLUL): c.*850T> C single nucleotide variant Uncertain significance rs886045610 GRCh38 Chromosome 1, 182383555: 182383555
47 GLUL NM_002065.6(GLUL): c.930C> T (p.Asn310=) single nucleotide variant Uncertain significance rs369280031 GRCh38 Chromosome 1, 182384597: 182384597
48 GLUL NM_002065.6(GLUL): c.930C> T (p.Asn310=) single nucleotide variant Uncertain significance rs369280031 GRCh37 Chromosome 1, 182353732: 182353732
49 GLUL NM_002065.6(GLUL): c.825G> A (p.Glu275=) single nucleotide variant Likely benign rs35378126 GRCh38 Chromosome 1, 182384702: 182384702
50 GLUL NM_002065.6(GLUL): c.825G> A (p.Glu275=) single nucleotide variant Likely benign rs35378126 GRCh37 Chromosome 1, 182353837: 182353837

Expression for Glutamine Deficiency, Congenital

Search GEO for disease gene expression data for Glutamine Deficiency, Congenital.

Pathways for Glutamine Deficiency, Congenital

Pathways related to Glutamine Deficiency, Congenital according to KEGG:

37
# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250
2 Arginine biosynthesis hsa00220
3 Nitrogen metabolism hsa00910
4 Glutamatergic synapse hsa04724
5 GABAergic synapse hsa04727

GO Terms for Glutamine Deficiency, Congenital

Sources for Glutamine Deficiency, Congenital

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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