ADSLD
MCID: ADN022
MIFTS: 40

Adenylosuccinase Deficiency (ADSLD)

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

Aliases & Classifications for Adenylosuccinase Deficiency

MalaCards integrated aliases for Adenylosuccinase Deficiency:

Name: Adenylosuccinase Deficiency 58 54 26 60 76 13
Adenylosuccinate Lyase Deficiency 58 77 54 26 60 76 38 30 6 74
Adsl Deficiency 58 54 26 60 76
Adsld 58 76
Deficiency, Adenylosuccinate Lyase 41
Succinylpurinemic Autism 26
Adenylosuccinate Lyase 13

Characteristics:

Orphanet epidemiological data:

60
adenylosuccinate lyase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features
the lower the s-ado:saicar ratio, the more severe the phenotype


HPO:

33
adenylosuccinase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adenylosuccinase Deficiency

OMIM : 58 Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012). (103050)

MalaCards based summary : Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to adenylosuccinase lyase deficiency and epilepsy, and has symptoms including myoclonus, gait ataxia and opisthotonus. An important gene associated with Adenylosuccinase Deficiency is ADSL (Adenylosuccinate Lyase), and among its related pathways/superpathways are Purine metabolism and Alanine, aspartate and glutamate metabolism. The drugs Allopurinol and Free Radical Scavengers have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are low-set ears and intellectual disability

Genetics Home Reference : 26 Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.

NIH Rare Diseases : 54 Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and movement, autistic features, epilepsy, muscle wasting, and feeding problems. Although less common, abnormal physical features can include severe growth failure, small head, abnormally shaped head, strabismus, small nose with upturned nostrils, thin upper lip, and low set ears. Adenylosuccinase deficiency is caused by mutations in the ADSL gene and is inherited in an autosomal recessive fashion.

UniProtKB/Swiss-Prot : 76 Adenylosuccinase deficiency: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA- riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.

Wikipedia : 77 Adenylosuccinate lyase deficiency, is a rare autosomal recessive metabolic disorder characterized by the... more...

Related Diseases for Adenylosuccinase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 adenylosuccinase lyase deficiency 11.4
2 epilepsy 10.2
3 hypotonia 10.2
4 papillomatosis, confluent and reticulated 10.2
5 endometrial cancer 10.2
6 aicar transformylase/imp cyclohydrolase deficiency 10.1
7 autism 10.1
8 microcephaly 10.1
9 encephalopathy 10.1

Graphical network of the top 20 diseases related to Adenylosuccinase Deficiency:



Diseases related to Adenylosuccinase Deficiency

Symptoms & Phenotypes for Adenylosuccinase Deficiency

Human phenotypes related to Adenylosuccinase Deficiency:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
5 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microcephaly 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000252
7 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
8 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
9 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
10 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
11 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
12 absent speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001344
13 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
14 flat occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0005469
15 prominent metopic ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005487
16 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
17 hypointensity of cerebral white matter on mri 60 33 hallmark (90%) Very frequent (99-80%) HP:0007103
18 happy demeanor 33 occasional (7.5%) HP:0040082
19 nystagmus 33 HP:0000639
20 global developmental delay 33 HP:0001263
21 delayed speech and language development 33 HP:0000750
22 skeletal muscle atrophy 33 HP:0003202
23 strabismus 33 HP:0000486
24 myoclonus 33 HP:0001336
25 autism 33 HP:0000717
26 growth delay 33 HP:0001510
27 gait ataxia 33 HP:0002066
28 inability to walk 33 HP:0002540
29 wide mouth 33 HP:0000154
30 aggressive behavior 33 HP:0000718
31 cerebellar atrophy 33 HP:0001272
32 brisk reflexes 33 HP:0001348
33 hyperactivity 33 HP:0000752
34 cerebral atrophy 33 HP:0002059
35 opisthotonus 33 HP:0002179
36 cns hypomyelination 33 HP:0003429
37 self-mutilation 33 HP:0000742
38 poor eye contact 33 HP:0000817
39 cerebral hypomyelination 33 HP:0006808
40 inappropriate laughter 33 HP:0000748

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
spasticity
myoclonus
gait ataxia
inability to walk
cerebellar atrophy
more
Head And Neck Mouth:
wide mouth
thin upper lip

Head And Neck Nose:
anteverted nostrils
small nose

Head And Neck Face:
long smooth philtrum

Laboratory Abnormalities:
increased succinyladenosine (s-ado) in serum, urine, and csf
increased succinylaminoimidazole carboxamide ribotide (saicar)
decreased s-ado:saicar ratio
adenylosuccinase deficiency

Head And Neck Eyes:
nystagmus
strabismus

Head And Neck Head:
brachycephaly
microcephaly (less common)
prominent metopic suture

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
self-mutilation
autistic features
temper tantrums
more
Growth Other:
growth retardation

Muscle Soft Tissue:
muscle wasting

Clinical features from OMIM:

103050

UMLS symptoms related to Adenylosuccinase Deficiency:


myoclonus, gait ataxia, opisthotonus, muscle spasticity

Drugs & Therapeutics for Adenylosuccinase Deficiency

Drugs for Adenylosuccinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 2 315-30-0 2094
2 Free Radical Scavengers Phase 2
3 Antimetabolites Phase 2
4 Antioxidants Phase 2
5 Antirheumatic Agents Phase 2
6 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency Not yet recruiting NCT03776656 Phase 2 Allopurinol

Search NIH Clinical Center for Adenylosuccinase Deficiency

Genetic Tests for Adenylosuccinase Deficiency

Genetic tests related to Adenylosuccinase Deficiency:

# Genetic test Affiliating Genes
1 Adenylosuccinate Lyase Deficiency 30 ADSL

Anatomical Context for Adenylosuccinase Deficiency

MalaCards organs/tissues related to Adenylosuccinase Deficiency:

42
Brain, Eye, Skeletal Muscle, Testes, Ovary

Publications for Adenylosuccinase Deficiency

Articles related to Adenylosuccinase Deficiency:

(show top 50) (show all 75)
# Title Authors Year
1
MRI findings of hypomyelination in adenylosuccinate lyase deficiency. ( 30510607 )
2019
2
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data. ( 28127531 )
2017
3
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. ( 28487569 )
2017
4
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing. ( 28768552 )
2017
5
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. ( 27504266 )
2016
6
Adenylosuccinate lyase deficiency. ( 25112391 )
2015
7
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots. ( 25445730 )
2015
8
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. ( 23504561 )
2014
9
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. ( 23055421 )
2013
10
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method. ( 23937257 )
2013
11
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. ( 24183879 )
2013
12
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ( 23519317 )
2013
13
Isolated neonatal seizures: adenylosuccinase deficiency is another cause! ( 22883297 )
2012
14
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. ( 21625931 )
2012
15
Novel features in the evolution of adenylosuccinate lyase deficiency. ( 21903433 )
2012
16
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. ( 22140128 )
2012
17
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. ( 20884265 )
2011
18
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine. ( 22719107 )
2011
19
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. ( 20127976 )
2010
20
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. ( 20175147 )
2010
21
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. ( 20177786 )
2010
22
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. ( 20933180 )
2010
23
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. ( 18830228 )
2009
24
Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients. ( 20054783 )
2009
25
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency. ( 18368630 )
2008
26
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. ( 18524658 )
2008
27
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. ( 18649008 )
2008
28
[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]. ( 18201882 )
2008
29
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. ( 17188615 )
2007
30
Adenylosuccinate lyase deficiency: the first identified polish patient. ( 17485188 )
2007
31
Adenylosuccinate lyase deficiency. ( 16839792 )
2006
32
Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. ( 15902552 )
2005
33
Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s). ( 15571234 )
2004
34
Adenylosuccinate lyase deficiency--first British case. ( 15571235 )
2004
35
Biochemical and molecular genetic correlation in adenylosuccinate lyase deficiency. ( 15571240 )
2004
36
Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role. ( 12590570 )
2003
37
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. ( 12833398 )
2003
38
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. ( 12016589 )
2002
39
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? ( 12070256 )
2002
40
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. ( 12368987 )
2002
41
Neurologic aspects of adenylosuccinate lyase deficiency. ( 11392513 )
2001
42
Autism and adenylosuccinase deficiency. ( 10714045 )
2000
43
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. ( 11042421 )
2000
44
Prenatal diagnosis in adenylosuccinate lyase deficiency. ( 10701848 )
2000
45
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. ( 10958654 )
2000
46
Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. ( 11783531 )
2000
47
Adenylosuccinate lyase deficiency: from the clinics to molecular biology. ( 11783532 )
2000
48
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. ( 10888601 )
2000
49
Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency. ( 9989253 )
1999
50
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. ( 10727185 )
1999

Variations for Adenylosuccinase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Adenylosuccinase Deficiency:

76 (show all 27)
# Symbol AA change Variation ID SNP ID
1 ADSL p.Ser438Pro VAR_000680 rs119450940
2 ADSL p.Ile72Val VAR_007972
3 ADSL p.Arg141Trp VAR_007973 rs756210458
4 ADSL p.Arg190Gln VAR_007974 rs28941471
5 ADSL p.Lys246Glu VAR_007975 rs119450944
6 ADSL p.Arg303Cys VAR_007976 rs373458753
7 ADSL p.Ser395Arg VAR_007977
8 ADSL p.Arg426His VAR_007978 rs119450941
9 ADSL p.Ala2Val VAR_016930 rs143083947
10 ADSL p.Met26Leu VAR_016931 rs131117124
11 ADSL p.Thr450Ser VAR_016932 rs372895468
12 ADSL p.Ala3Val VAR_017078
13 ADSL p.Pro100Ala VAR_017079 rs119450942
14 ADSL p.Tyr114His VAR_017080 rs374259530
15 ADSL p.Arg194Cys VAR_017081 rs146515268
16 ADSL p.Asp268Asn VAR_017082 rs746501563
17 ADSL p.Leu311Val VAR_017083
18 ADSL p.Pro318Leu VAR_017084 rs202064195
19 ADSL p.Val364Met VAR_017085 rs370851726
20 ADSL p.Arg374Trp VAR_017086 rs376533026
21 ADSL p.Arg396Cys VAR_017087 rs755492501
22 ADSL p.Arg396His VAR_017088 rs763542069
23 ADSL p.Asp422Tyr VAR_017089 rs119450943
24 ADSL p.Leu423Val VAR_017090
25 ADSL p.Asp430Asn VAR_017091 rs554254383
26 ADSL p.Ser447Pro VAR_017092 rs777821034
27 ADSL p.Arg452Pro VAR_017093

ClinVar genetic disease variations for Adenylosuccinase Deficiency:

6 (show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADSL ADSL, -49T-C, PROMOTER single nucleotide variant Pathogenic
2 ADSL NM_000026.2(ADSL): c.1060A> G (p.Thr354Ala) single nucleotide variant Uncertain significance rs75953451 GRCh37 Chromosome 22, 40759034: 40759034
3 ADSL NM_000026.2(ADSL): c.1060A> G (p.Thr354Ala) single nucleotide variant Uncertain significance rs75953451 GRCh38 Chromosome 22, 40363030: 40363030
4 ADSL NM_000026.2(ADSL): c.1342T> C (p.Ser448Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs771121666 GRCh37 Chromosome 22, 40761034: 40761034
5 ADSL NM_000026.2(ADSL): c.1342T> C (p.Ser448Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs771121666 GRCh38 Chromosome 22, 40365030: 40365030
6 ADSL NM_000026.3(ADSL): c.403-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs373652667 GRCh38 Chromosome 22, 40354244: 40354244
7 ADSL NM_000026.3(ADSL): c.403-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs373652667 GRCh37 Chromosome 22, 40750248: 40750248
8 ADSL NM_000026.3(ADSL): c.270T> C (p.Ala90=) single nucleotide variant Conflicting interpretations of pathogenicity rs143275316 GRCh37 Chromosome 22, 40745952: 40745952
9 ADSL NM_000026.3(ADSL): c.270T> C (p.Ala90=) single nucleotide variant Conflicting interpretations of pathogenicity rs143275316 GRCh38 Chromosome 22, 40349948: 40349948
10 ADSL NM_000026.3(ADSL): c.907C> T (p.Arg303Cys) single nucleotide variant Pathogenic rs373458753 GRCh37 Chromosome 22, 40757536: 40757536
11 ADSL NM_000026.3(ADSL): c.907C> T (p.Arg303Cys) single nucleotide variant Pathogenic rs373458753 GRCh38 Chromosome 22, 40361532: 40361532
12 ADSL NM_000026.2(ADSL): c.1279A> G (p.Ile427Val) single nucleotide variant Uncertain significance rs758241731 GRCh37 Chromosome 22, 40760971: 40760971
13 ADSL NM_000026.2(ADSL): c.1279A> G (p.Ile427Val) single nucleotide variant Uncertain significance rs758241731 GRCh38 Chromosome 22, 40364967: 40364967
14 ADSL NM_000026.2(ADSL): c.563G> A (p.Arg188His) single nucleotide variant Uncertain significance rs761937276 GRCh37 Chromosome 22, 40754948: 40754948
15 ADSL NM_000026.2(ADSL): c.563G> A (p.Arg188His) single nucleotide variant Uncertain significance rs761937276 GRCh38 Chromosome 22, 40358944: 40358944
16 ADSL NM_000026.2(ADSL): c.1400C> G (p.Pro467Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521071 GRCh37 Chromosome 22, 40762471: 40762471
17 ADSL NM_000026.2(ADSL): c.1400C> G (p.Pro467Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521071 GRCh38 Chromosome 22, 40366467: 40366467
18 ADSL NM_000026.3(ADSL): c.71C> T (p.Pro24Leu) single nucleotide variant Uncertain significance rs1257907226 GRCh38 Chromosome 22, 40346629: 40346629
19 ADSL NM_000026.3(ADSL): c.71C> T (p.Pro24Leu) single nucleotide variant Uncertain significance rs1257907226 GRCh37 Chromosome 22, 40742633: 40742633
20 ADSL NM_000026.3(ADSL): c.541A> T (p.Met181Leu) single nucleotide variant Uncertain significance rs768542145 GRCh37 Chromosome 22, 40754926: 40754926
21 ADSL NM_000026.3(ADSL): c.541A> T (p.Met181Leu) single nucleotide variant Uncertain significance rs768542145 GRCh38 Chromosome 22, 40358922: 40358922
22 ADSL NM_000026.3(ADSL): c.581G> A (p.Arg194His) single nucleotide variant Uncertain significance rs755359802 GRCh37 Chromosome 22, 40754966: 40754966
23 ADSL NM_000026.3(ADSL): c.581G> A (p.Arg194His) single nucleotide variant Uncertain significance rs755359802 GRCh38 Chromosome 22, 40358962: 40358962
24 ADSL NM_000026.3(ADSL): c.898C> T (p.Arg300Cys) single nucleotide variant Uncertain significance rs369617680 GRCh37 Chromosome 22, 40757527: 40757527
25 ADSL NM_000026.3(ADSL): c.898C> T (p.Arg300Cys) single nucleotide variant Uncertain significance rs369617680 GRCh38 Chromosome 22, 40361523: 40361523
26 ADSL NM_000026.3(ADSL): c.1350T> C (p.Thr450=) single nucleotide variant Likely benign rs200300396 GRCh38 Chromosome 22, 40365038: 40365038
27 ADSL NM_000026.3(ADSL): c.1350T> C (p.Thr450=) single nucleotide variant Likely benign rs200300396 GRCh37 Chromosome 22, 40761042: 40761042
28 ADSL NM_000026.3(ADSL): c.1355G> A (p.Arg452His) single nucleotide variant Uncertain significance rs775671027 GRCh38 Chromosome 22, 40365043: 40365043
29 ADSL NM_000026.3(ADSL): c.1355G> A (p.Arg452His) single nucleotide variant Uncertain significance rs775671027 GRCh37 Chromosome 22, 40761047: 40761047
30 ADSL NM_000026.3(ADSL): c.36C> A (p.Ser12Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 40346594: 40346594
31 ADSL NM_000026.3(ADSL): c.36C> A (p.Ser12Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 40742598: 40742598
32 ADSL NM_000026.3(ADSL): c.407C> T (p.Ala136Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 40354252: 40354252
33 ADSL NM_000026.3(ADSL): c.407C> T (p.Ala136Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 40750256: 40750256
34 ADSL NM_000026.3(ADSL): c.1114C> A (p.Arg372Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 40760292: 40760292
35 ADSL NM_000026.3(ADSL): c.1114C> A (p.Arg372Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 40364288: 40364288
36 ADSL NM_000026.3(ADSL): c.550C> T (p.Gln184Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 40754935: 40754935
37 ADSL NM_000026.3(ADSL): c.550C> T (p.Gln184Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 40358931: 40358931
38 ADSL NM_000026.3(ADSL): c.586C> T (p.Arg196Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 40754971: 40754971
39 ADSL NM_000026.3(ADSL): c.586C> T (p.Arg196Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 40358967: 40358967
40 ADSL NM_000026.3(ADSL): c.541A> G (p.Met181Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 40754926: 40754926
41 ADSL NM_000026.3(ADSL): c.541A> G (p.Met181Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 40358922: 40358922
42 ADSL NM_000026.3(ADSL): c.155C> A (p.Thr52Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 40745837: 40745837
43 ADSL NM_000026.3(ADSL): c.155C> A (p.Thr52Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 40349833: 40349833
44 ADSL NM_000026.3(ADSL): c.870T> C (p.Ser290=) single nucleotide variant Likely benign rs146890981 GRCh38 Chromosome 22, 40361495: 40361495
45 ADSL NM_000026.3(ADSL): c.870T> C (p.Ser290=) single nucleotide variant Likely benign rs146890981 GRCh37 Chromosome 22, 40757499: 40757499
46 ADSL NM_000026.3(ADSL): c.801C> T (p.Thr267=) single nucleotide variant Likely benign rs369069575 GRCh38 Chromosome 22, 40361281: 40361281
47 ADSL NM_000026.3(ADSL): c.801C> T (p.Thr267=) single nucleotide variant Likely benign rs369069575 GRCh37 Chromosome 22, 40757285: 40757285
48 ADSL NM_000026.3(ADSL): c.1405T> A (p.Leu469Ile) single nucleotide variant Uncertain significance rs768999974 GRCh37 Chromosome 22, 40762476: 40762476
49 ADSL NM_000026.3(ADSL): c.1405T> A (p.Leu469Ile) single nucleotide variant Uncertain significance rs768999974 GRCh38 Chromosome 22, 40366472: 40366472
50 ADSL NM_000026.3(ADSL): c.769A> G (p.Ser257Gly) single nucleotide variant Uncertain significance rs775115015 GRCh38 Chromosome 22, 40360469: 40360469

Expression for Adenylosuccinase Deficiency

Search GEO for disease gene expression data for Adenylosuccinase Deficiency.

Pathways for Adenylosuccinase Deficiency

Pathways related to Adenylosuccinase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Alanine, aspartate and glutamate metabolism hsa00250

GO Terms for Adenylosuccinase Deficiency

Sources for Adenylosuccinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....