ADSLD
MCID: ADN022
MIFTS: 44

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 56 52 25 58 73 13
Adenylosuccinate Lyase Deficiency 56 74 52 25 58 73 36 29 6 71
Adsl Deficiency 56 52 25 58 73
Adsld 56 73
Deficiency, Adenylosuccinate Lyase 39
Succinylpurinemic Autism 25

Characteristics:

Orphanet epidemiological data:

58
adenylosuccinate lyase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
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:

31
adenylosuccinase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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 intellectual disability and abnormal facial shape

NIH Rare Diseases : 52 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 : 56 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 : 36 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 : 73 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 : 74 Adenylosuccinate lyase deficiency, is a rare autosomal recessive metabolic disorder characterized by the... more...

Related Diseases for Adenylosuccinase Deficiency

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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 microcephaly 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000252
5 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
6 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
8 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
9 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
10 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
13 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
14 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
15 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
16 hypointensity of cerebral white matter on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0007103
17 seizure 31 hallmark (90%) HP:0001250
18 happy demeanor 31 occasional (7.5%) HP:0040082
19 global developmental delay 31 HP:0001263
20 delayed speech and language development 31 HP:0000750
21 seizures 58 Very frequent (99-80%)
22 skeletal muscle atrophy 31 HP:0003202
23 nystagmus 31 HP:0000639
24 myoclonus 31 HP:0001336
25 strabismus 31 HP:0000486
26 autism 31 HP:0000717
27 growth delay 31 HP:0001510
28 wide mouth 31 HP:0000154
29 gait ataxia 31 HP:0002066
30 cerebellar atrophy 31 HP:0001272
31 poor eye contact 31 HP:0000817
32 cerebral atrophy 31 HP:0002059
33 aggressive behavior 31 HP:0000718
34 hyperactivity 31 HP:0000752
35 self-mutilation 31 HP:0000742
36 inability to walk 31 HP:0002540
37 brisk reflexes 31 HP:0001348
38 inappropriate laughter 31 HP:0000748
39 cerebral hypomyelination 31 HP:0006808
40 cns hypomyelination 31 HP:0003429
41 opisthotonus 31 HP:0002179

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
brachycephaly
microcephaly (less common)
prominent metopic suture

Head And Neck Eyes:
nystagmus
strabismus

Head And Neck Mouth:
wide mouth
thin upper lip

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

Neurologic Central Nervous System:
spasticity
myoclonus
gait ataxia
cerebellar atrophy
poor eye contact
more
Head And Neck Ears:
low-set ears

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
self-mutilation
autistic features
temper tantrums
more
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 2 315-30-0 2094
2 Antioxidants Phase 2
3 Protective Agents Phase 2
4 Antirheumatic Agents Phase 2
5 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:

40
Brain, Eye, Skeletal Muscle, Testes, Liver, Skin, Ovary

Publications for Adenylosuccinase Deficiency

Articles related to Adenylosuccinase Deficiency:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. 61 6 56
18830228 2009
2
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 6 56 61
18524658 2008
3
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 61 56 6
12833398 2003
4
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 56 6 61
10090474 1999
5
Adenylosuccinase deficiency presenting with epilepsy in early infancy. 6 56 61
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. 56 6
10888601 2000
7
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. 6 56
1302001 1992
8
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. 56 6
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. 61 6
12016589 2002
10
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? 56 61
12070256 2002
11
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. 61 56
11042421 2000
12
Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. 61 56
9266351 1997
13
Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy. 6 61
9197470 1997
14
Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. 6 61
8598641 1995
15
Adenylosuccinase deficiency: a newly recognized variant. 56 61
1405483 1992
16
Urine test for adenylosuccinase deficiency in autistic children. 56 61
2563072 1989
17
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. 61 56
3234432 1988
18
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
19
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. 56
22180458 2012
20
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 56
15114530 2004
21
Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. 6
9545543 1998
22
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype. 61
32405461 2020
23
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis. 61
31467849 2019
24
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. 61
31600779 2019
25
MRI findings of hypomyelination in adenylosuccinate lyase deficiency. 61
30510607 2019
26
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing. 61
28768552 2017
27
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. 61
28487569 2017
28
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data. 61
28127531 2017
29
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. 61
27504266 2016
30
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry. 61
26602134 2016
31
Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders. 61
25482736 2015
32
Adenylosuccinate lyase deficiency. 61
25112391 2015
33
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots. 61
25445730 2015
34
Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl. 61
24055166 2014
35
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. 61
24839100 2014
36
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. 61
23504561 2014
37
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. 61
24940674 2014
38
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. 61
24183879 2013
39
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. 61
23937257 2013
40
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. 61
23055421 2013
41
Isolated neonatal seizures: adenylosuccinase deficiency is another cause! 61
22883297 2012
42
Novel features in the evolution of adenylosuccinate lyase deficiency. 61
21903433 2012
43
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. 61
22140128 2012
44
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. 61
21625931 2012
45
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine. 61
22719107 2011
46
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. 61
20884265 2011
47
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. 61
20177786 2010
48
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 61
20933180 2010
49
Correlation between polymorphisms in ADSL and GARS-AIRS-GART genes with inosine 5'-monophosphate (IMP) contents in Beijing-you chickens. 61
21058063 2010
50
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. 61
20175147 2010

Variations for Adenylosuccinase Deficiency

ClinVar genetic disease variations for Adenylosuccinase Deficiency:

6 (show top 50) (show all 141) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADSL NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)SNV Pathogenic 583132 rs1569096551 22:40754935-40754935 22:40358931-40358931
2 ADSL NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)SNV Pathogenic 803695 22:40756429-40756429 22:40360425-40360425
3 ADSL NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)SNV Pathogenic 807536 22:40745950-40745950 22:40349946-40349946
4 ADSL NC_000022.11:g.(?_40346510)_(40366542_?)deldeletion Pathogenic 831615 22:40742514-40762546
5 ADSL NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)SNV Pathogenic 2461 rs119450940 22:40761004-40761004 22:40365000-40365000
6 ADSL NM_000026.4(ADSL):c.1277G>A (p.Arg426His)SNV Pathogenic 2462 rs119450941 22:40760969-40760969 22:40364965-40364965
7 ADSL NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)SNV Pathogenic 2463 rs119450942 22:40745980-40745980 22:40349976-40349976
8 ADSL ADSL, -49T-C, PROMOTERSNV Pathogenic 2467
9 ADSL NM_000026.4(ADSL):c.674T>C (p.Met225Thr)SNV Pathogenic 2468 rs119450945 22:40755283-40755283 22:40359279-40359279
10 ADSL NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)SNV Pathogenic 289379 rs373458753 22:40757536-40757536 22:40361532-40361532
11 ADSL NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)SNV Pathogenic 204801 rs777821034 22:40761031-40761031 22:40365027-40365027
12 ADSL NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)SNV Pathogenic 204814 rs750614500 22:40754953-40754953 22:40358949-40358949
13 ADSL NM_000026.4(ADSL):c.340T>C (p.Tyr114His)SNV Pathogenic 204807 rs374259530 22:40746022-40746022 22:40350018-40350018
14 ADSL NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)SNV Pathogenic 846915 22:40757606-40757606 22:40361602-40361602
15 ADSL NM_000026.4(ADSL):c.1187G>A (p.Arg396His)SNV Pathogenic/Likely pathogenic 204796 rs763542069 22:40760365-40760365 22:40364361-40364361
16 ADSL NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)SNV Pathogenic/Likely pathogenic 379129 rs1036185928 22:40745935-40745935 22:40349931-40349931
17 ADSL NM_000026.4(ADSL):c.994G>C (p.Asp332His)SNV Likely pathogenic 242557 rs776496275 22:40757623-40757623 22:40361619-40361619
18 ADSL NC_000022.11:g.(?_40358844)_(40366542_?)deldeletion Likely pathogenic 831125 22:40754848-40762546
19 ADSL NM_000026.4(ADSL):c.1152_1154CAT[2] (p.Ile386del)short repeat Likely pathogenic 803696 22:40760330-40760332 22:40364326-40364328
20 ADSL NM_000026.4(ADSL):c.402+1G>TSNV Likely pathogenic 654306 22:40749122-40749122 22:40353118-40353118
21 ADSL NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)SNV Likely pathogenic 2466 rs119450944 22:40756440-40756440 22:40360436-40360436
22 ADSL NM_000026.4(ADSL):c.895A>G (p.Met299Val)SNV Conflicting interpretations of pathogenicity 198981 rs34396910 22:40757524-40757524 22:40361520-40361520
23 ADSL NM_000026.4(ADSL):c.357+7G>ASNV Conflicting interpretations of pathogenicity 136309 rs199993991 22:40746046-40746046 22:40350042-40350042
24 ADSL NM_000026.4(ADSL):c.357+6C>TSNV Conflicting interpretations of pathogenicity 136308 rs181628906 22:40746045-40746045 22:40350041-40350041
25 ADSL NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)SNV Conflicting interpretations of pathogenicity 204792 rs202064195 22:40757582-40757582 22:40361578-40361578
26 ADSL NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)SNV Conflicting interpretations of pathogenicity 204815 rs756210458 22:40750270-40750270 22:40354266-40354266
27 ADSL NM_000026.4(ADSL):c.880T>C (p.Tyr294His)SNV Conflicting interpretations of pathogenicity 204790 rs8192461 22:40757509-40757509 22:40361505-40361505
28 ADSL NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)SNV Conflicting interpretations of pathogenicity 204784 rs148411623 22:40755001-40755001 22:40358997-40358997
29 ADSL NM_000026.4(ADSL):c.403-4G>ASNV Conflicting interpretations of pathogenicity 236554 rs373652667 22:40750248-40750248 22:40354244-40354244
30 ADSL NM_000026.4(ADSL):c.763C>T (p.Leu255=)SNV Conflicting interpretations of pathogenicity 341656 rs771049726 22:40756467-40756467 22:40360463-40360463
31 ADSL NM_000026.4(ADSL):c.579G>C (p.Leu193=)SNV Conflicting interpretations of pathogenicity 283531 rs751928831 22:40754964-40754964 22:40358960-40358960
32 ADSL NM_000026.4(ADSL):c.702-7T>CSNV Conflicting interpretations of pathogenicity 166656 rs201509960 22:40756399-40756399 22:40360395-40360395
33 ADSL NM_000026.4(ADSL):c.363G>A (p.Leu121=)SNV Conflicting interpretations of pathogenicity 136311 rs138203195 22:40749082-40749082 22:40353078-40353078
34 ADSL NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)SNV Conflicting interpretations of pathogenicity 381551 rs1057521071 22:40762471-40762471 22:40366467-40366467
35 ADSL NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)SNV Conflicting interpretations of pathogenicity 2465 rs28941471 22:40754954-40754954 22:40358950-40358950
36 ADSL NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)SNV Conflicting interpretations of pathogenicity 235410 rs771121666 22:40761034-40761034 22:40365030-40365030
37 ADSL NM_000026.4(ADSL):c.270T>C (p.Ala90=)SNV Conflicting interpretations of pathogenicity 254723 rs143275316 22:40745952-40745952 22:40349948-40349948
38 ADSL NM_000026.4(ADSL):c.735A>T (p.Arg245=)SNV Conflicting interpretations of pathogenicity 92306 rs143977255 22:40756439-40756439 22:40360435-40360435
39 ADSL NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)SNV Uncertain significance 193545 rs75953451 22:40759034-40759034 22:40363030-40363030
40 ADSL NM_000026.4(ADSL):c.-35G>TSNV Uncertain significance 341655 rs750649096 22:40742528-40742528 22:40346524-40346524
41 ADSL NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)SNV Uncertain significance 341658 rs755688868 22:40760284-40760284 22:40364280-40364280
42 ADSL NM_000026.4(ADSL):c.*45A>TSNV Uncertain significance 341662 rs180726920 22:40762571-40762571 22:40366567-40366567
43 ADSL NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)SNV Uncertain significance 381550 rs376533026 22:40760298-40760298 22:40364294-40364294
44 ADSL NM_000026.4(ADSL):c.32A>T (p.Asp11Val)SNV Uncertain significance 383132 rs368501116 22:40742594-40742594 22:40346590-40346590
45 ADSL NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)SNV Uncertain significance 341660 rs886057505 22:40760948-40760948 22:40364944-40364944
46 ADSL NM_000026.4(ADSL):c.1200T>C (p.His400=)SNV Uncertain significance 341659 rs751401941 22:40760892-40760892 22:40364888-40364888
47 ADSL NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)SNV Uncertain significance 341657 rs181252862 22:40757292-40757292 22:40361288-40361288
48 ADSL NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)SNV Uncertain significance 391918 rs758241731 22:40760971-40760971 22:40364967-40364967
49 ADSL NM_000026.4(ADSL):c.563G>A (p.Arg188His)SNV Uncertain significance 393034 rs761937276 22:40754948-40754948 22:40358944-40358944
50 ADSL NM_000026.4(ADSL):c.926G>A (p.Arg309His)SNV Uncertain significance 382334 rs749817666 22:40757555-40757555 22:40361551-40361551

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

73 (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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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