MCID: ASP024
MIFTS: 30

Asparagine Synthetase Deficiency

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

Aliases & Classifications for Asparagine Synthetase Deficiency

MalaCards integrated aliases for Asparagine Synthetase Deficiency:

Name: Asparagine Synthetase Deficiency 57 59 75 37 29 6 40 73
Asns Deficiency 57 75
Asnsd 57 75
Congenital Microcephaly-Severe Encephalopathy-Progressive Cerebral Atrophy Syndrome 59
Asparagine Synthetase 13

Characteristics:

Orphanet epidemiological data:

59
congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in utero or at birth
death usually in infancy


HPO:

32
asparagine synthetase deficiency:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Asparagine Synthetase Deficiency

OMIM : 57 ASNS deficiency is an autosomal recessive severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. The disorder shows onset in utero or at birth and may result in early death (summary by Ruzzo et al., 2013). (615574)

MalaCards based summary : Asparagine Synthetase Deficiency, also known as asns deficiency, is related to leukemia and leukemia, acute lymphoblastic, and has symptoms including seizures, hyperexplexia and feeling jittery. An important gene associated with Asparagine Synthetase Deficiency is ASNS (Asparagine Synthetase (Glutamine-Hydrolyzing)), and among its related pathways/superpathways is Alanine, aspartate and glutamate metabolism. Affiliated tissues include pancreas, brain and pons, and related phenotypes are seizures and hyperreflexia

UniProtKB/Swiss-Prot : 75 Asparagine synthetase deficiency: An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity.

Wikipedia : 76 Asparagine synthetase (or aspartate-ammonia ligase) is a chiefly cytoplasmic enzyme that generates... more...

Related Diseases for Asparagine Synthetase Deficiency

Diseases related to Asparagine Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia 10.4
2 leukemia, acute lymphoblastic 10.3
3 lymphoblastic leukemia 10.3
4 ovarian cancer 10.1
5 hepatocellular carcinoma 10.0
6 diaphragmatic eventration 9.9
7 microcephaly 9.9
8 encephalopathy 9.9

Graphical network of the top 20 diseases related to Asparagine Synthetase Deficiency:



Diseases related to Asparagine Synthetase Deficiency

Symptoms & Phenotypes for Asparagine Synthetase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hyperreflexia
spastic tetraplegia
cerebellar hypoplasia
cortical dysplasia
more
Respiratory:
respiratory insufficiency

Skeletal Hands:
large hands

Head And Neck Ears:
large ears

Head And Neck Eyes:
cortical blindness

Laboratory Abnormalities:
decreased asparagine levels (in some patients)

Growth Other:
failure to thrive

Head And Neck Face:
micrognathia
receding forehead

Skeletal Feet:
large feet

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly, progressive (up to -7 sd)


Clinical features from OMIM:

615574

Human phenotypes related to Asparagine Synthetase Deficiency:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hyperreflexia 32 HP:0001347
3 failure to thrive 32 HP:0001508
4 respiratory insufficiency 32 HP:0002093
5 macrotia 32 HP:0000400
6 spastic tetraplegia 32 HP:0002510
7 micrognathia 32 HP:0000347
8 feeding difficulties 32 HP:0011968
9 ventriculomegaly 32 HP:0002119
10 cerebellar hypoplasia 32 HP:0001321
11 large hands 32 HP:0001176
12 sloping forehead 32 HP:0000340
13 encephalopathy 32 HP:0001298
14 hypoplasia of the corpus callosum 32 HP:0002079
15 cortical dysplasia 32 HP:0002539
16 hypsarrhythmia 32 HP:0002521
17 exaggerated startle response 32 HP:0002267
18 profound global developmental delay 32 HP:0012736
19 cortical visual impairment 32 HP:0100704
20 hypoplasia of the pons 32 HP:0012110
21 long foot 32 HP:0001833
22 muscular hypotonia of the trunk 32 HP:0008936
23 progressive microcephaly 32 HP:0000253
24 cortical gyral simplification 32 HP:0009879
25 delayed myelination 32 HP:0012448

UMLS symptoms related to Asparagine Synthetase Deficiency:


seizures, hyperexplexia, feeling jittery

Drugs & Therapeutics for Asparagine Synthetase Deficiency

Search Clinical Trials , NIH Clinical Center for Asparagine Synthetase Deficiency

Genetic Tests for Asparagine Synthetase Deficiency

Genetic tests related to Asparagine Synthetase Deficiency:

# Genetic test Affiliating Genes
1 Asparagine Synthetase Deficiency 29 ASNS

Anatomical Context for Asparagine Synthetase Deficiency

MalaCards organs/tissues related to Asparagine Synthetase Deficiency:

41
Pancreas, Brain, Pons

Publications for Asparagine Synthetase Deficiency

Articles related to Asparagine Synthetase Deficiency:

# Title Authors Year
1
Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. ( 29405484 )
2018
2
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. ( 29375865 )
2018
3
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. ( 29279279 )
2017
4
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. ( 28776279 )
2017
5
Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency. ( 27268761 )
2016
6
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. ( 27469131 )
2016
7
The first report of Japanese patients with asparagine synthetase deficiency. ( 27743885 )
2016
8
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. ( 26318253 )
2015
9
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. ( 25663424 )
2015
10
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. ( 25227173 )
2014

Variations for Asparagine Synthetase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Asparagine Synthetase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 ASNS p.Ala6Glu VAR_070896 rs398122975
2 ASNS p.Phe362Val VAR_070897 rs398122973
3 ASNS p.Arg550Cys VAR_070898 rs398122974

ClinVar genetic disease variations for Asparagine Synthetase Deficiency:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASNS NM_183356.3(ASNS): c.1084T> G (p.Phe362Val) single nucleotide variant Pathogenic rs398122973 GRCh37 Chromosome 7, 97484718: 97484718
2 ASNS NM_183356.3(ASNS): c.1084T> G (p.Phe362Val) single nucleotide variant Pathogenic rs398122973 GRCh38 Chromosome 7, 97855406: 97855406
3 ASNS NM_133436.3(ASNS): c.1648C> T (p.Arg550Cys) single nucleotide variant Likely pathogenic rs398122974 GRCh37 Chromosome 7, 97481609: 97481609
4 ASNS NM_133436.3(ASNS): c.1648C> T (p.Arg550Cys) single nucleotide variant Likely pathogenic rs398122974 GRCh38 Chromosome 7, 97852297: 97852297
5 ASNS NM_133436.3(ASNS): c.17C> A (p.Ala6Glu) single nucleotide variant Likely pathogenic rs398122975 GRCh37 Chromosome 7, 97498452: 97498452
6 ASNS NM_133436.3(ASNS): c.17C> A (p.Ala6Glu) single nucleotide variant Likely pathogenic rs398122975 GRCh38 Chromosome 7, 97869140: 97869140
7 ASNS NM_133436.3(ASNS): c.478delG (p.Glu160Lysfs) deletion Pathogenic rs797045307 GRCh37 Chromosome 7, 97493580: 97493580
8 ASNS NM_133436.3(ASNS): c.478delG (p.Glu160Lysfs) deletion Pathogenic rs797045307 GRCh38 Chromosome 7, 97864268: 97864268
9 ASNS NM_133436.3(ASNS): c.413A> T (p.Asp138Val) single nucleotide variant Pathogenic rs797045306 GRCh37 Chromosome 7, 97493645: 97493645
10 ASNS NM_133436.3(ASNS): c.413A> T (p.Asp138Val) single nucleotide variant Pathogenic rs797045306 GRCh38 Chromosome 7, 97864333: 97864333
11 ASNS NM_133436.3(ASNS): c.1030+1G> A single nucleotide variant Likely pathogenic rs780288372 GRCh38 Chromosome 7, 97856689: 97856689
12 ASNS NM_133436.3(ASNS): c.1030+1G> A single nucleotide variant Likely pathogenic rs780288372 GRCh37 Chromosome 7, 97486001: 97486001
13 ASNS NM_001178075.1(ASNS): c.139C> A (p.Pro47Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 97498267: 97498267
14 ASNS NM_001178075.1(ASNS): c.139C> A (p.Pro47Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 97868955: 97868955
15 ASNS NM_133436.3(ASNS): c.1165G> C (p.Glu389Gln) single nucleotide variant Likely pathogenic rs948326794 GRCh38 Chromosome 7, 97854653: 97854653
16 ASNS NM_133436.3(ASNS): c.1165G> C (p.Glu389Gln) single nucleotide variant Likely pathogenic rs948326794 GRCh37 Chromosome 7, 97483965: 97483965
17 ASNS NM_133436.3(ASNS): c.601delA (p.Met201Trpfs) deletion Pathogenic GRCh37 Chromosome 7, 97488597: 97488597
18 ASNS NM_133436.3(ASNS): c.601delA (p.Met201Trpfs) deletion Pathogenic GRCh38 Chromosome 7, 97859285: 97859285

Expression for Asparagine Synthetase Deficiency

Search GEO for disease gene expression data for Asparagine Synthetase Deficiency.

Pathways for Asparagine Synthetase Deficiency

Pathways related to Asparagine Synthetase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250

GO Terms for Asparagine Synthetase Deficiency

Sources for Asparagine Synthetase Deficiency

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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