MCID: ADN023
MIFTS: 21

Adenylosuccinate Lyase Deficiency malady

Download this MalaCard

Summaries for Adenylosuccinate Lyase Deficiency

About this section
Sources:
65Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal... more...

MalaCards: Adenylosuccinate Lyase Deficiency is related to adenylosuccinase deficiency and adenylosuccinase lyase deficiency. An important gene associated with Adenylosuccinate Lyase Deficiency is ADSL (adenylosuccinate lyase). Affiliated tissues include brain and testes.

Aliases & Classifications for Adenylosuccinate Lyase Deficiency

About this section
Sources:
65Wikipedia, 22GTR, 62UMLS
See all sources

Aliases & Descriptions:

adenylosuccinate lyase deficiency 65 22 62


Related Diseases for Adenylosuccinate Lyase Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Adenylosuccinate Lyase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenylosuccinase deficiency10.6
2adenylosuccinase lyase deficiency10.3
3hypotonia10.3

Symptoms for Adenylosuccinate Lyase Deficiency

About this section

Drugs & Therapeutics for Adenylosuccinate Lyase Deficiency

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Adenylosuccinate Lyase Deficiency

Search NIH Clinical Center for Adenylosuccinate Lyase Deficiency

Genetic Tests for Adenylosuccinate Lyase Deficiency

About this section
Sources:
22GTR
See all sources

Genetic tests related to Adenylosuccinate Lyase Deficiency:

id Genetic test Affiliating Genes
1 Adenylosuccinate Lyase Deficiency22

Anatomical Context for Adenylosuccinate Lyase Deficiency

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Adenylosuccinate Lyase Deficiency:

33
Brain, Testes

Animal Models for Adenylosuccinate Lyase Deficiency or affiliated genes

About this section

Publications for Adenylosuccinate Lyase Deficiency

About this section
Sources:
52PubMed
See all sources

Articles related to Adenylosuccinate Lyase Deficiency:

(show all 43)
idTitleAuthorsYear
1
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
2
Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature. (23504561)
2013
3
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. (23055421)
2013
4
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. (24183879)
2013
5
Novel features in the evolution of adenylosuccinate lyase deficiency. (21903433)
2012
6
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. (22140128)
2012
7
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. (21625931)
2012
8
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine. (22719107)
2011
9
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. (20175147)
2010
10
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. (20177786)
2010
11
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. (20127976)
2010
12
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. (20933180)
2010
13
Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients. (20054783)
2009
14
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. (18830228)
2009
15
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. (18649008)
2008
16
Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]. (18201882)
2008
17
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. (18524658)
2008
18
Adenylosuccinate lyase deficiency: the first identified polish patient. (17485188)
2007
19
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. (17188615)
2007
20
Adenylosuccinate lyase deficiency. (16839792)
2006
21
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
22
Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s). (15571234)
2004
23
Biochemical and molecular genetic correlation in adenylosuccinate lyase deficiency. (15571240)
2004
24
Adenylosuccinate lyase deficiency--first British case. (15571235)
2004
25
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
26
The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies. (12876319)
2003
27
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (12833398)
2003
28
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (12368987)
2002
29
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? (12070256)
2002
30
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
31
Neurologic aspects of adenylosuccinate lyase deficiency. (11392513)
2001
32
Adenylosuccinate lyase deficiency: from the clinics to molecular biology. (11783532)
2000
33
Prenatal diagnosis in adenylosuccinate lyase deficiency. (10701848)
2000
34
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (10958654)
2000
35
Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. (11783531)
2000
36
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. (10090474)
1999
37
First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. (9165520)
1997
38
Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy. (9197470)
1997
39
Adenylosuccinate lyase deficiency and disorders of saccharide metabolism; experience with combined screening test. (8737603)
1996
40
Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. (8586067)
1995
41
A new diagnostic technique for adenylosuccinate lyase deficiency. (7474894)
1995
42
Adenylosuccinate lyase deficiency: an update. (7660929)
1994
43
Adenylosuccinate lyase deficiency in a Czech girl and two siblings. (7660930)
1994

Variations for Adenylosuccinate Lyase Deficiency

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Adenylosuccinate Lyase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1ADSLNM_000026.2(ADSL): c.1312T> C (p.Ser438Pro)single nucleotide variantPathogenicrs119450940GRCh37Chr 22, 40761004: 40761004
2ADSLNM_000026.2(ADSL): c.1277G> A (p.Arg426His)single nucleotide variantPathogenicrs119450941GRCh37Chr 22, 40760969: 40760969
3ADSLNM_000026.2(ADSL): c.298C> G (p.Pro100Ala)single nucleotide variantPathogenicrs119450942GRCh37Chr 22, 40745980: 40745980
4ADSLNM_000026.2(ADSL): c.1264G> T (p.Asp422Tyr)single nucleotide variantPathogenicrs119450943GRCh37Chr 22, 40760956: 40760956
5ADSLNM_000026.2(ADSL): c.569G> A (p.Arg190Gln)single nucleotide variantPathogenicrs28941471GRCh37Chr 22, 40754954: 40754954
6ADSLNM_000026.2(ADSL): c.736A> G (p.Lys246Glu)single nucleotide variantPathogenicrs119450944GRCh37Chr 22, 40756440: 40756440
7ADSLNM_000026.2(ADSL): c.674T> C (p.Met225Thr)single nucleotide variantPathogenicrs119450945GRCh37Chr 22, 40755283: 40755283

Expression for genes affiliated with Adenylosuccinate Lyase Deficiency

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Adenylosuccinate Lyase Deficiency

Search GEO for disease gene expression data for Adenylosuccinate Lyase Deficiency.

Pathways for genes affiliated with Adenylosuccinate Lyase Deficiency

About this section

Compounds for genes affiliated with Adenylosuccinate Lyase Deficiency

About this section

GO Terms for genes affiliated with Adenylosuccinate Lyase Deficiency

About this section

Products for genes affiliated with Adenylosuccinate Lyase Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenylosuccinate Lyase Deficiency

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet