ADSLD
MCID: ADN022
MIFTS: 43

Adenylosuccinase Deficiency (ADSLD)

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

Aliases & Classifications for Adenylosuccinase Deficiency

MalaCards integrated aliases for Adenylosuccinase Deficiency:

Name: Adenylosuccinase Deficiency 57 53 25 59 74 13
Adenylosuccinate Lyase Deficiency 57 75 53 25 59 74 37 29 6 72
Adsl Deficiency 57 53 25 59 74
Adsld 57 74
Deficiency, Adenylosuccinate Lyase 40
Succinylpurinemic Autism 25

Characteristics:

Orphanet epidemiological data:

59
adenylosuccinate lyase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
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:

32
adenylosuccinase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 103050
KEGG 37 H00197
MeSH 44 D011686
MESH via Orphanet 45 C538235
ICD10 via Orphanet 34 E79.8
UMLS via Orphanet 73 C0268126
Orphanet 59 ORPHA46
MedGen 42 C0268126
UMLS 72 C0268126

Summaries for Adenylosuccinase Deficiency

Genetics Home Reference : 25 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. Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. The most severe is the neonatal form. Signs and symptoms of this form can be detected at or before birth and can include impaired growth during fetal development and a small head size (microcephaly). Affected newborns have severe encephalopathy, which leads to a lack of movement, difficulty feeding, and life-threatening respiratory problems. Some affected babies develop seizures that do not improve with treatment. Because of the severity of the encephalopathy, infants with this form of the condition generally do not survive more than a few weeks after birth. Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. The signs and symptoms of this form begin in the first months of life. Affected babies have severe psychomotor delay, weak muscle tone (hypotonia), and microcephaly. Many affected infants develop recurrent seizures that are difficult to treat, and some exhibit autistic behaviors, such as repetitive behaviors and a lack of eye contact. In individuals with adenylosuccinate lyase deficiency type II (also known as the moderate or mild form), development is typically normal for the first few years of life but then slows. Psychomotor delay is considered mild or moderate. Some children with this form of the condition develop seizures and autistic behaviors.

MalaCards based summary : Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to adenylosuccinase lyase deficiency and inherited metabolic disorder, 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 Antioxidants 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

NIH Rare Diseases : 53 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.

OMIM : 57 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)

KEGG : 37
Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.

UniProtKB/Swiss-Prot : 74 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 : 75 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:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 adenylosuccinase lyase deficiency 11.6
2 inherited metabolic disorder 10.5
3 respiratory failure 10.4
4 epilepsy 10.4
5 angelman syndrome 10.3
6 argininosuccinic aciduria 10.3
7 spasticity 10.3
8 disorder of purine metabolism 10.3
9 visual epilepsy 10.3
10 hypotonia 10.3
11 seizure disorder 10.3
12 lissencephaly 10.2
13 autism spectrum disorder 10.2
14 apraxia 10.2
15 leukodystrophy 10.2
16 fanconi syndrome 10.2
17 status epilepticus 10.2
18 cerebral atrophy 10.2
19 myoclonus 10.2
20 tremor 10.2
21 neurometabolic disease 10.2
22 aicar transformylase/imp cyclohydrolase deficiency 10.2
23 autism 10.1
24 abdominal obesity-metabolic syndrome 1 10.1
25 early infantile epileptic encephalopathy 10.1
26 autosomal recessive disease 10.1
27 muscular dystrophy 10.1
28 microcephaly 10.1
29 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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microcephaly 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000252
7 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
8 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
9 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
10 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
12 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
13 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
14 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
15 flat occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0005469
16 prominent metopic ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005487
17 hypointensity of cerebral white matter on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0007103
18 happy demeanor 32 occasional (7.5%) HP:0040082
19 nystagmus 32 HP:0000639
20 global developmental delay 32 HP:0001263
21 delayed speech and language development 32 HP:0000750
22 skeletal muscle atrophy 32 HP:0003202
23 hyperactivity 32 HP:0000752
24 strabismus 32 HP:0000486
25 myoclonus 32 HP:0001336
26 autism 32 HP:0000717
27 growth delay 32 HP:0001510
28 gait ataxia 32 HP:0002066
29 inability to walk 32 HP:0002540
30 wide mouth 32 HP:0000154
31 aggressive behavior 32 HP:0000718
32 cerebellar atrophy 32 HP:0001272
33 brisk reflexes 32 HP:0001348
34 poor eye contact 32 HP:0000817
35 cerebral atrophy 32 HP:0002059
36 opisthotonus 32 HP:0002179
37 cns hypomyelination 32 HP:0003429
38 self-mutilation 32 HP:0000742
39 cerebral hypomyelination 32 HP:0006808
40 inappropriate laughter 32 HP:0000748

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
spasticity
myoclonus
gait ataxia
inability to walk
cerebellar atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive behavior
self-mutilation
autistic features
temper tantrums
more
Growth Other:
growth retardation

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

Head And Neck Mouth:
wide mouth
thin upper lip

Head And Neck Nose:
anteverted nostrils
small nose

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 Antioxidants Phase 2
3 Free Radical Scavengers Phase 2
4 Protective Agents Phase 2
5 Antirheumatic Agents Phase 2
6 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Treatment With Allopurinol on Autistic Disorders and Epilepsy in Adenylosuccinate Lyase Deficiency (ADSL) 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 29 ADSL

Anatomical Context for Adenylosuccinase Deficiency

MalaCards organs/tissues related to Adenylosuccinase Deficiency:

41
Brain, Eye, Skeletal Muscle, Testes, Liver, Ovary, Skin

Publications for Adenylosuccinase Deficiency

Articles related to Adenylosuccinase Deficiency:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. 38 8 71
18830228 2009
2
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 38 8 71
18524658 2008
3
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 38 8 71
12833398 2003
4
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 38 8 71
10090474 1999
5
Adenylosuccinase deficiency presenting with epilepsy in early infancy. 38 8 71
9266401 1997
6
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. 8 71
10888601 2000
7
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. 8 71
1302001 1992
8
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. 8 71
6150139 1984
9
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. 38 71
12016589 2002
10
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? 38 8
12070256 2002
11
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. 38 8
11042421 2000
12
Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. 38 8
9266351 1997
13
Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy. 38 71
9197470 1997
14
Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. 38 71
8598641 1995
15
Adenylosuccinase deficiency: a newly recognized variant. 38 8
1405483 1992
16
Urine test for adenylosuccinase deficiency in autistic children. 38 8
2563072 1989
17
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. 38 8
3234432 1988
18
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
19
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. 8
22180458 2012
20
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 8
15114530 2004
21
Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. 71
9545543 1998
22
MRI findings of hypomyelination in adenylosuccinate lyase deficiency. 38
30510607 2019
23
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing. 38
28768552 2017
24
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. 38
28487569 2017
25
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data. 38
28127531 2017
26
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. 38
27504266 2016
27
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry. 38
26602134 2016
28
Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders. 38
25482736 2015
29
Adenylosuccinate lyase deficiency. 38
25112391 2015
30
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots. 38
25445730 2015
31
Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl. 38
24055166 2014
32
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. 38
24839100 2014
33
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. 38
23504561 2014
34
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. 38
24940674 2014
35
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. 38
24183879 2013
36
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. 38
23937257 2013
37
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. 38
23055421 2013
38
Isolated neonatal seizures: adenylosuccinase deficiency is another cause! 38
22883297 2012
39
Novel features in the evolution of adenylosuccinate lyase deficiency. 38
21903433 2012
40
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. 38
22140128 2012
41
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. 38
21625931 2012
42
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine. 38
22719107 2011
43
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. 38
20884265 2011
44
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. 38
20177786 2010
45
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 38
20933180 2010
46
Correlation between polymorphisms in ADSL and GARS-AIRS-GART genes with inosine 5'-monophosphate (IMP) contents in Beijing-you chickens. 38
21058063 2010
47
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. 38
20175147 2010
48
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. 38
20127976 2010
49
Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients. 38
20054783 2009
50
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. 38
18649008 2008

Variations for Adenylosuccinase Deficiency

ClinVar genetic disease variations for Adenylosuccinase Deficiency:

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADSL NM_000026.4(ADSL): c.340T> C (p.Tyr114His) single nucleotide variant Pathogenic rs374259530 22:40746022-40746022 22:40350018-40350018
2 ADSL NM_000026.4(ADSL): c.568C> T (p.Arg190Ter) single nucleotide variant Pathogenic rs750614500 22:40754953-40754953 22:40358949-40358949
3 ADSL NM_000026.4(ADSL): c.1339T> C (p.Ser447Pro) single nucleotide variant Pathogenic rs777821034 22:40761031-40761031 22:40365027-40365027
4 ADSL NM_000026.4(ADSL): c.550C> T (p.Gln184Ter) single nucleotide variant Pathogenic 22:40754935-40754935 22:40358931-40358931
5 ADSL NM_000026.4(ADSL): c.907C> T (p.Arg303Cys) single nucleotide variant Pathogenic rs373458753 22:40757536-40757536 22:40361532-40361532
6 ADSL NM_000026.4(ADSL): c.674T> C (p.Met225Thr) single nucleotide variant Pathogenic rs119450945 22:40755283-40755283 22:40359279-40359279
7 ADSL ADSL, -49T-C, PROMOTER single nucleotide variant Pathogenic
8 ADSL NM_000026.4(ADSL): c.298C> G (p.Pro100Ala) single nucleotide variant Pathogenic rs119450942 22:40745980-40745980 22:40349976-40349976
9 ADSL NM_000026.4(ADSL): c.1277G> A (p.Arg426His) single nucleotide variant Pathogenic rs119450941 22:40760969-40760969 22:40364965-40364965
10 ADSL NM_000026.4(ADSL): c.1312T> C (p.Ser438Pro) single nucleotide variant Pathogenic rs119450940 22:40761004-40761004 22:40365000-40365000
11 ADSL NM_000026.4(ADSL): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1036185928 22:40745935-40745935 22:40349931-40349931
12 ADSL NM_000026.4(ADSL): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic/Likely pathogenic rs763542069 22:40760365-40760365 22:40364361-40364361
13 ADSL NM_000026.4(ADSL): c.736A> G (p.Lys246Glu) single nucleotide variant Likely pathogenic rs119450944 22:40756440-40756440 22:40360436-40360436
14 ADSL NM_000026.4(ADSL): c.402+1G> T single nucleotide variant Likely pathogenic 22:40749122-40749122 22:40353118-40353118
15 ADSL NM_000026.4(ADSL): c.403-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs373652667 22:40750248-40750248 22:40354244-40354244
16 ADSL NM_000026.4(ADSL): c.569G> A (p.Arg190Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs28941471 22:40754954-40754954 22:40358950-40358950
17 ADSL NM_000026.4(ADSL): c.895A> G (p.Met299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34396910 22:40757524-40757524 22:40361520-40361520
18 ADSL NM_000026.4(ADSL): c.702-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201509960 22:40756399-40756399 22:40360395-40360395
19 ADSL NM_000026.4(ADSL): c.735A> T (p.Arg245=) single nucleotide variant Conflicting interpretations of pathogenicity rs143977255 22:40756439-40756439 22:40360435-40360435
20 ADSL NM_000026.4(ADSL): c.1342T> C (p.Ser448Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs771121666 22:40761034-40761034 22:40365030-40365030
21 ADSL NM_000026.4(ADSL): c.270T> C (p.Ala90=) single nucleotide variant Conflicting interpretations of pathogenicity rs143275316 22:40745952-40745952 22:40349948-40349948
22 ADSL NM_000026.4(ADSL): c.616G> T (p.Ala206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148411623 22:40755001-40755001 22:40358997-40358997
23 ADSL NM_000026.4(ADSL): c.880T> C (p.Tyr294His) single nucleotide variant Conflicting interpretations of pathogenicity rs8192461 22:40757509-40757509 22:40361505-40361505
24 ADSL NM_000026.4(ADSL): c.953C> T (p.Pro318Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202064195 22:40757582-40757582 22:40361578-40361578
25 ADSL NM_000026.4(ADSL): c.1400C> G (p.Pro467Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521071 22:40762471-40762471 22:40366467-40366467
26 ADSL NM_000026.4(ADSL): c.124C> T (p.Leu42=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228415 22:40742686-40742686 22:40346682-40346682
27 ADSL NM_000026.4(ADSL): c.357+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs181628906 22:40746045-40746045 22:40350041-40350041
28 ADSL NM_000026.4(ADSL): c.357+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs199993991 22:40746046-40746046 22:40350042-40350042
29 ADSL NM_000026.4(ADSL): c.1060A> G (p.Thr354Ala) single nucleotide variant Uncertain significance rs75953451 22:40759034-40759034 22:40363030-40363030
30 ADSL NM_000026.4(ADSL): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance rs780425464 22:40745929-40745929 22:40349925-40349925
31 ADSL NM_000026.4(ADSL): c.916A> G (p.Ser306Gly) single nucleotide variant Uncertain significance rs1006262492 22:40757545-40757545 22:40361541-40361541
32 ADSL NM_000026.4(ADSL): c.1337C> A (p.Pro446His) single nucleotide variant Uncertain significance rs755964863 22:40761029-40761029 22:40365025-40365025
33 ADSL NM_000026.4(ADSL): c.887G> A (p.Arg296Gln) single nucleotide variant Uncertain significance rs755059672 22:40757516-40757516 22:40361512-40361512
34 ADSL NM_000026.4(ADSL): c.1111C> T (p.Arg371Trp) single nucleotide variant Uncertain significance rs777359946 22:40760289-40760289 22:40364285-40364285
35 ADSL NM_000026.4(ADSL): c.769A> G (p.Ser257Gly) single nucleotide variant Uncertain significance rs775115015 22:40756473-40756473 22:40360469-40360469
36 ADSL NM_000026.4(ADSL): c.71C> T (p.Pro24Leu) single nucleotide variant Uncertain significance rs1257907226 22:40742633-40742633 22:40346629-40346629
37 ADSL NM_000026.4(ADSL): c.541A> T (p.Met181Leu) single nucleotide variant Uncertain significance rs768542145 22:40754926-40754926 22:40358922-40358922
38 ADSL NM_000026.4(ADSL): c.581G> A (p.Arg194His) single nucleotide variant Uncertain significance rs755359802 22:40754966-40754966 22:40358962-40358962
39 ADSL NM_000026.4(ADSL): c.898C> T (p.Arg300Cys) single nucleotide variant Uncertain significance rs369617680 22:40757527-40757527 22:40361523-40361523
40 ADSL NM_000026.4(ADSL): c.1115G> A (p.Arg372His) single nucleotide variant Uncertain significance rs150228971 22:40760293-40760293 22:40364289-40364289
41 ADSL NM_000026.4(ADSL): c.1120C> T (p.Arg374Trp) single nucleotide variant Uncertain significance rs376533026 22:40760298-40760298 22:40364294-40364294
42 ADSL NM_000026.4(ADSL): c.1279A> G (p.Ile427Val) single nucleotide variant Uncertain significance rs758241731 22:40760971-40760971 22:40364967-40364967
43 ADSL NM_000026.4(ADSL): c.563G> A (p.Arg188His) single nucleotide variant Uncertain significance rs761937276 22:40754948-40754948 22:40358944-40358944
44 ADSL NM_000026.4(ADSL): c.925C> T (p.Arg309Cys) single nucleotide variant Uncertain significance rs376357524 22:40757554-40757554 22:40361550-40361550
45 ADSL NM_000026.4(ADSL): c.1262A> G (p.Asn421Ser) single nucleotide variant Uncertain significance rs145750778 22:40760954-40760954 22:40364950-40364950
46 ADSL NM_000026.4(ADSL): c.1114C> A (p.Arg372Ser) single nucleotide variant Uncertain significance 22:40760292-40760292 22:40364288-40364288
47 ADSL NM_000026.4(ADSL): c.36C> A (p.Ser12Arg) single nucleotide variant Uncertain significance 22:40742598-40742598 22:40346594-40346594
48 ADSL NM_000026.4(ADSL): c.407C> T (p.Ala136Val) single nucleotide variant Uncertain significance 22:40750256-40750256 22:40354252-40354252
49 ADSL NM_000026.4(ADSL): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs192303222 22:40760290-40760290 22:40364286-40364286
50 ADSL NM_000026.4(ADSL): c.1264G> T (p.Asp422Tyr) single nucleotide variant Uncertain significance rs119450943 22:40760956-40760956 22:40364952-40364952

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

74 (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

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:

37
# 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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