ADSLD
MCID: ADN022
MIFTS: 37

Adenylosuccinase Deficiency (ADSLD)

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

Aliases & Classifications for Adenylosuccinase Deficiency

MalaCards integrated aliases for Adenylosuccinase Deficiency:

Name: Adenylosuccinase Deficiency 57 53 25 59 75 13
Adenylosuccinate Lyase Deficiency 57 76 53 25 59 75 37 29 6 40 73
Adsl Deficiency 57 53 25 59 75
Adsld 57 75
Succinylpurinemic Autism 25
Adenylosuccinate Lyase 13

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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adenylosuccinase Deficiency

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)

MalaCards based summary : Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to epilepsy and microcephaly, and has symptoms including muscle spasticity, myoclonus 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. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are low-set ears and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

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.

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.

Wikipedia : 76 Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal... 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 epilepsy 10.1
2 microcephaly 9.9
3 encephalopathy 9.9
4 autism 9.9

Symptoms & Phenotypes for Adenylosuccinase Deficiency

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
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

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 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
12 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
13 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
14 flat occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0005469
15 prominent metopic ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005487
16 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
17 hypointensity of cerebral white matter on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0007103
18 nystagmus 32 HP:0000639
19 global developmental delay 32 HP:0001263
20 delayed speech and language development 32 HP:0000750
21 skeletal muscle atrophy 32 HP:0003202
22 strabismus 32 HP:0000486
23 myoclonus 32 HP:0001336
24 autism 32 HP:0000717
25 growth delay 32 HP:0001510
26 gait ataxia 32 HP:0002066
27 inability to walk 32 HP:0002540
28 wide mouth 32 HP:0000154
29 aggressive behavior 32 HP:0000718
30 cerebellar atrophy 32 HP:0001272
31 brisk reflexes 32 HP:0001348
32 hyperactivity 32 HP:0000752
33 cerebral atrophy 32 HP:0002059
34 opisthotonus 32 HP:0002179
35 cns hypomyelination 32 HP:0003429
36 self-mutilation 32 HP:0000742
37 happy demeanor 32 occasional (7.5%) HP:0040082
38 poor eye contact 32 HP:0000817
39 cerebral hypomyelination 32 HP:0006808
40 inappropriate laughter 32 HP:0000748

UMLS symptoms related to Adenylosuccinase Deficiency:


muscle spasticity, myoclonus, opisthotonus, gait ataxia

Drugs & Therapeutics for Adenylosuccinase Deficiency

Search Clinical Trials , 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, Ovary

Publications for Adenylosuccinase Deficiency

Articles related to Adenylosuccinase Deficiency:

(show top 50) (show all 69)
# Title Authors Year
1
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots. ( 25445730 )
2015
2
Adenylosuccinate lyase deficiency. ( 25112391 )
2014
3
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
4
Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature. ( 23504561 )
2013
5
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. ( 23055421 )
2013
6
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. ( 24183879 )
2013
7
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. ( 22140128 )
2012
8
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. ( 21625931 )
2012
9
Isolated neonatal seizures: adenylosuccinase deficiency is another cause! ( 22883297 )
2012
10
Novel features in the evolution of adenylosuccinate lyase deficiency. ( 21903433 )
2012
11
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine. ( 22719107 )
2011
12
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. ( 20884265 )
2011
13
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. ( 20175147 )
2010
14
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. ( 20177786 )
2010
15
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. ( 20127976 )
2010
16
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. ( 20933180 )
2010
17
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. ( 18830228 )
2009
18
Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients. ( 20054783 )
2009
19
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. ( 18649008 )
2008
20
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. ( 18524658 )
2008
21
[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]. ( 18201882 )
2008
22
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency. ( 18368630 )
2008
23
Adenylosuccinate lyase deficiency: the first identified polish patient. ( 17485188 )
2007
24
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. ( 17188615 )
2007
25
Adenylosuccinate lyase deficiency. ( 16839792 )
2006
26
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
27
Adenylosuccinate lyase deficiency--first British case. ( 15571235 )
2004
28
Biochemical and molecular genetic correlation in adenylosuccinate lyase deficiency. ( 15571240 )
2004
29
Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s). ( 15571234 )
2004
30
The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies. ( 12876319 )
2003
31
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
32
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. ( 12833398 )
2003
33
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
34
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. ( 12368987 )
2002
35
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? ( 12070256 )
2002
36
Neurologic aspects of adenylosuccinate lyase deficiency. ( 11392513 )
2001
37
Adenylosuccinate lyase deficiency: from the clinics to molecular biology. ( 11783532 )
2000
38
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. ( 11042421 )
2000
39
Prenatal diagnosis in adenylosuccinate lyase deficiency. ( 10701848 )
2000
40
Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. ( 11783531 )
2000
41
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. ( 10958654 )
2000
42
Autism and adenylosuccinase deficiency. ( 10714045 )
2000
43
Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency. ( 9989253 )
1999
44
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. ( 10090474 )
1999
45
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. ( 10727185 )
1999
46
[Adenylosuccinase deficiency]. ( 9590095 )
1998
47
Genetic basis of adenylosuccinase deficiency in an Italian patient. ( 9598084 )
1998
48
Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study. ( 9598074 )
1998
49
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death. ( 9553952 )
1998
50
Adenylosuccinase deficiency presenting with epilepsy in early infancy. ( 9266401 )
1997

Variations for Adenylosuccinase Deficiency

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

75 (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
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
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 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADSL NM_000026.3(ADSL): c.1312T> C (p.Ser438Pro) single nucleotide variant Pathogenic rs119450940 GRCh37 Chromosome 22, 40761004: 40761004
2 ADSL NM_000026.3(ADSL): c.1312T> C (p.Ser438Pro) single nucleotide variant Pathogenic rs119450940 GRCh38 Chromosome 22, 40365000: 40365000
3 ADSL NM_000026.3(ADSL): c.1277G> A (p.Arg426His) single nucleotide variant Pathogenic rs119450941 GRCh37 Chromosome 22, 40760969: 40760969
4 ADSL NM_000026.3(ADSL): c.1277G> A (p.Arg426His) single nucleotide variant Pathogenic rs119450941 GRCh38 Chromosome 22, 40364965: 40364965
5 ADSL NM_000026.3(ADSL): c.298C> G (p.Pro100Ala) single nucleotide variant Pathogenic rs119450942 GRCh37 Chromosome 22, 40745980: 40745980
6 ADSL NM_000026.3(ADSL): c.298C> G (p.Pro100Ala) single nucleotide variant Pathogenic rs119450942 GRCh38 Chromosome 22, 40349976: 40349976
7 ADSL NM_000026.3(ADSL): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs28941471 GRCh37 Chromosome 22, 40754954: 40754954
8 ADSL NM_000026.3(ADSL): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs28941471 GRCh38 Chromosome 22, 40358950: 40358950
9 ADSL NM_000026.3(ADSL): c.736A> G (p.Lys246Glu) single nucleotide variant Likely pathogenic rs119450944 GRCh37 Chromosome 22, 40756440: 40756440
10 ADSL NM_000026.3(ADSL): c.736A> G (p.Lys246Glu) single nucleotide variant Likely pathogenic rs119450944 GRCh38 Chromosome 22, 40360436: 40360436
11 ADSL ADSL, -49T-C, PROMOTER single nucleotide variant Pathogenic
12 ADSL NM_000026.3(ADSL): c.674T> C (p.Met225Thr) single nucleotide variant Pathogenic rs119450945 GRCh37 Chromosome 22, 40755283: 40755283
13 ADSL NM_000026.3(ADSL): c.674T> C (p.Met225Thr) single nucleotide variant Pathogenic rs119450945 GRCh38 Chromosome 22, 40359279: 40359279
14 ADSL NM_000026.3(ADSL): c.702-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201509960 GRCh37 Chromosome 22, 40756399: 40756399
15 ADSL NM_000026.3(ADSL): c.702-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201509960 GRCh38 Chromosome 22, 40360395: 40360395
16 ADSL NM_000026.3(ADSL): c.1060A> G (p.Thr354Ala) single nucleotide variant Uncertain significance rs75953451 GRCh37 Chromosome 22, 40759034: 40759034
17 ADSL NM_000026.3(ADSL): c.1060A> G (p.Thr354Ala) single nucleotide variant Uncertain significance rs75953451 GRCh38 Chromosome 22, 40363030: 40363030
18 ADSL NM_000026.3(ADSL): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance rs780425464 GRCh37 Chromosome 22, 40745929: 40745929
19 ADSL NM_000026.3(ADSL): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance rs780425464 GRCh38 Chromosome 22, 40349925: 40349925
20 ADSL NM_000026.3(ADSL): c.649C> G (p.His217Asp) single nucleotide variant Benign/Likely benign rs199761158 GRCh37 Chromosome 22, 40755034: 40755034
21 ADSL NM_000026.3(ADSL): c.649C> G (p.His217Asp) single nucleotide variant Benign/Likely benign rs199761158 GRCh38 Chromosome 22, 40359030: 40359030
22 ADSL NM_000026.3(ADSL): c.895A> G (p.Met299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34396910 GRCh37 Chromosome 22, 40757524: 40757524
23 ADSL NM_000026.3(ADSL): c.895A> G (p.Met299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34396910 GRCh38 Chromosome 22, 40361520: 40361520
24 ADSL NM_000026.3(ADSL): c.340T> C (p.Tyr114His) single nucleotide variant Pathogenic rs374259530 GRCh37 Chromosome 22, 40746022: 40746022
25 ADSL NM_000026.3(ADSL): c.340T> C (p.Tyr114His) single nucleotide variant Pathogenic rs374259530 GRCh38 Chromosome 22, 40350018: 40350018
26 ADSL NM_000026.3(ADSL): c.616G> T (p.Ala206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148411623 GRCh38 Chromosome 22, 40358997: 40358997
27 ADSL NM_000026.3(ADSL): c.616G> T (p.Ala206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148411623 GRCh37 Chromosome 22, 40755001: 40755001
28 ADSL NM_000026.3(ADSL): c.880T> C (p.Tyr294His) single nucleotide variant Conflicting interpretations of pathogenicity rs8192461 GRCh38 Chromosome 22, 40361505: 40361505
29 ADSL NM_000026.3(ADSL): c.880T> C (p.Tyr294His) single nucleotide variant Conflicting interpretations of pathogenicity rs8192461 GRCh37 Chromosome 22, 40757509: 40757509
30 ADSL NM_000026.3(ADSL): c.953C> T (p.Pro318Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202064195 GRCh37 Chromosome 22, 40757582: 40757582
31 ADSL NM_000026.3(ADSL): c.953C> T (p.Pro318Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202064195 GRCh38 Chromosome 22, 40361578: 40361578
32 ADSL NM_000026.3(ADSL): c.1115G> A (p.Arg372His) single nucleotide variant Uncertain significance rs150228971 GRCh37 Chromosome 22, 40760293: 40760293
33 ADSL NM_000026.3(ADSL): c.1115G> A (p.Arg372His) single nucleotide variant Uncertain significance rs150228971 GRCh38 Chromosome 22, 40364289: 40364289
34 ADSL NM_000026.3(ADSL): c.1262A> G (p.Asn421Ser) single nucleotide variant Uncertain significance rs145750778 GRCh37 Chromosome 22, 40760954: 40760954
35 ADSL NM_000026.3(ADSL): c.1262A> G (p.Asn421Ser) single nucleotide variant Uncertain significance rs145750778 GRCh38 Chromosome 22, 40364950: 40364950
36 ADSL NM_000026.3(ADSL): c.994G> C (p.Asp332His) single nucleotide variant no interpretation for the single variant rs776496275 GRCh37 Chromosome 22, 40757623: 40757623
37 ADSL NM_000026.3(ADSL): c.994G> C (p.Asp332His) single nucleotide variant no interpretation for the single variant rs776496275 GRCh38 Chromosome 22, 40361619: 40361619
38 ADSL NM_000026.3(ADSL): c.1342T> C (p.Ser448Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs771121666 GRCh37 Chromosome 22, 40761034: 40761034
39 ADSL NM_000026.3(ADSL): c.1342T> C (p.Ser448Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs771121666 GRCh38 Chromosome 22, 40365030: 40365030
40 ADSL NM_000026.3(ADSL): c.403-4G> A single nucleotide variant Benign rs373652667 GRCh38 Chromosome 22, 40354244: 40354244
41 ADSL NM_000026.3(ADSL): c.403-4G> A single nucleotide variant Benign rs373652667 GRCh37 Chromosome 22, 40750248: 40750248
42 ADSL NM_000026.3(ADSL): c.270T> C (p.Ala90=) single nucleotide variant Likely benign rs143275316 GRCh37 Chromosome 22, 40745952: 40745952
43 ADSL NM_000026.3(ADSL): c.270T> C (p.Ala90=) single nucleotide variant Likely benign rs143275316 GRCh38 Chromosome 22, 40349948: 40349948
44 ADSL NM_000026.3(ADSL): c.16G> C (p.Asp6His) single nucleotide variant Uncertain significance rs140064577 GRCh37 Chromosome 22, 40742578: 40742578
45 ADSL NM_000026.3(ADSL): c.16G> C (p.Asp6His) single nucleotide variant Uncertain significance rs140064577 GRCh38 Chromosome 22, 40346574: 40346574
46 ADSL NM_000026.3(ADSL): c.482+8A> G single nucleotide variant Uncertain significance rs886042606 GRCh37 Chromosome 22, 40750339: 40750339
47 ADSL NM_000026.3(ADSL): c.482+8A> G single nucleotide variant Uncertain significance rs886042606 GRCh38 Chromosome 22, 40354335: 40354335
48 ADSL NM_000026.3(ADSL): c.907C> T (p.Arg303Cys) single nucleotide variant Pathogenic rs373458753 GRCh37 Chromosome 22, 40757536: 40757536
49 ADSL NM_000026.3(ADSL): c.907C> T (p.Arg303Cys) single nucleotide variant Pathogenic rs373458753 GRCh38 Chromosome 22, 40361532: 40361532
50 ADSL NM_000026.3(ADSL): c.763C> T (p.Leu255=) single nucleotide variant Uncertain significance rs771049726 GRCh38 Chromosome 22, 40360463: 40360463

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

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