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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Glutamine deficiency, congenital (C536832)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4690

Name:

Glutamine deficiency, congenital

Definition:

Alternative IDs:

OMIM:610015

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C536832 |C18.452.648.100/C536832

Synonyms:

Glutamine synthase deficiency, congenital systemic |Glutamine synthetase deficiency, congenital systemic

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C536832
MeSH: C536832
OMIM: 610015;

Genes: GLUL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002104	Apnea
3	HP:0001662	Bradycardia
4	HP:0012444	Brain atrophy
5	HP:0003429	CNS hypomyelination
6	HP:0001522	Death in infancy	HP:0040283
7	HP:0005280	Depressed nasal bridge
8	HP:0001298	Encephalopathy
9	HP:0001371	Flexion contracture	HP:0040283
10	HP:0001290	Generalized hypotonia
11	HP:0001987	Hyperammonemia
12	HP:0001347	Hyperreflexia
13	HP:0002079	Hypoplasia of the corpus callosum
14	HP:0000369	Low-set ears
15	HP:0002983	Micromelia	HP:0040283
16	HP:0007109	Periventricular cysts
17	HP:0002093	Respiratory insufficiency
18	HP:0001250	Seizure
19	HP:0011344	Severe global developmental delay
20	HP:0000988	Skin rash
21	HP:0002416	Subependymal cysts
22	HP:0002119	Ventriculomegaly
23	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002065.6(GLUL):c.1021C>T (p.Arg341Cys)	2752	GLUL	Pathogenic	80358215	RCV000017464;	N	MedGen:C1864910,OMIM:610015,ORPHA:71278	1	182353641	182353641	NM_002065.6:c.1021C>T	NP_002056.2:p.Arg341Cys	NC_000001.10:g.182353641G>A	OMIM Allelic Variant:138290.0002	C1864910 610015 Glutamine deficiency, congenital
NM_002065.6(GLUL):c.970C>T (p.Arg324Cys)	2752	GLUL	Pathogenic	80358214	RCV000017463;	N	MedGen:C1864910,OMIM:610015,ORPHA:71278	1	182353692	182353692	NM_002065.6:c.970C>T	NP_002056.2:p.Arg324Cys	NC_000001.10:g.182353692G>A,NC_000001.10:g.182353692G>T	OMIM Allelic Variant:138290.0001	C1864910 610015 Glutamine deficiency, congenital
NM_002065.6(GLUL):c.970C>A (p.Arg324Ser)	2752	GLUL	Pathogenic	80358214	RCV000022586;	N	MedGen:C1864910,OMIM:610015,ORPHA:71278	1	182353692	182353692	NM_002065.6:c.970C>A	NP_002056.2:p.Arg324Ser	NC_000001.10:g.182353692G>A,NC_000001.10:g.182353692G>T	OMIM Allelic Variant:138290.0003	C1864910 610015 Glutamine deficiency, congenital