MCID: ADN022
MIFTS: 39

Adenylosuccinase Deficiency malady

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

Aliases & Classifications for Adenylosuccinase Deficiency

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 68Wikipedia, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Adenylosuccinase Deficiency:

Name: Adenylosuccinase Deficiency 49 11 45 22 23 51 67
Adenylosuccinate Lyase Deficiency 68 45 23 51 67 24 65
Adsl Deficiency 45 23 51 67
 
Succinylpurinemic Autism 23
Adsld 67

Characteristics:

Orphanet epidemiological data:

51
adenylosuccinate lyase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
adenylosuccinase deficiency:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 103050
Orphanet51 46
ICD10 via Orphanet28 E79.8
MESH via Orphanet37 C538235
UMLS via Orphanet66 C0268126
MedGen34 C0268126
MeSH36 D011686
UMLS65 C0268126

Summaries for Adenylosuccinase Deficiency

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OMIM:49 Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de... (103050) more...

MalaCards based summary: Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to obesity and walker-warburg syndrome, and has symptoms including happy demeanor, severe global developmental delay and cerebral hypomyelination. An important gene associated with Adenylosuccinase Deficiency is ADSL (Adenylosuccinate Lyase). Affiliated tissues include brain, eye and skeletal muscle.

Genetics Home Reference:23 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:45 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. last updated: 9/8/2011

UniProtKB/Swiss-Prot:67 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:68 Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal... more...

Related Diseases for Adenylosuccinase Deficiency

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



Diseases related to adenylosuccinase deficiency

Symptoms for Adenylosuccinase Deficiency

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Symptoms by clinical synopsis from OMIM:

103050

Clinical features from OMIM:

103050

HPO human phenotypes related to Adenylosuccinase Deficiency:

(show all 36)
id Description Frequency HPO Source Accession
1 happy demeanor rare (5%) HP:0040082
2 severe global developmental delay HP:0011344
3 cerebral hypomyelination HP:0006808
4 prominent metopic ridge HP:0005487
5 cns hypomyelination HP:0003429
6 skeletal muscle atrophy HP:0003202
7 short nose HP:0003196
8 inability to walk HP:0002540
9 opisthotonus HP:0002179
10 gait ataxia HP:0002066
11 cerebral atrophy HP:0002059
12 growth delay HP:0001510
13 brisk reflexes HP:0001348
14 myoclonus HP:0001336
15 cerebellar atrophy HP:0001272
16 global developmental delay HP:0001263
17 muscular hypotonia HP:0001252
18 seizures HP:0001250
19 intellectual disability HP:0001249
20 poor eye contact HP:0000817
21 hyperactivity HP:0000752
22 delayed speech and language development HP:0000750
23 inappropriate laughter HP:0000748
24 self-mutilation HP:0000742
25 aggressive behavior HP:0000718
26 autism HP:0000717
27 nystagmus HP:0000639
28 strabismus HP:0000486
29 anteverted nares HP:0000463
30 low-set ears HP:0000369
31 long philtrum HP:0000343
32 smooth philtrum HP:0000319
33 microcephaly HP:0000252
34 brachycephaly HP:0000248
35 thin upper lip vermilion HP:0000219
36 wide mouth HP:0000154

Drugs & Therapeutics for Adenylosuccinase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Adenylosuccinase Deficiency

Genetic Tests for Adenylosuccinase Deficiency

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Genetic tests related to Adenylosuccinase Deficiency:

id Genetic test Affiliating Genes
1 Adenylosuccinase Deficiency22 ADSL

Anatomical Context for Adenylosuccinase Deficiency

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MalaCards organs/tissues related to Adenylosuccinase Deficiency:

33
Brain, Eye, Skeletal muscle, Lung, Heart

Animal Models for Adenylosuccinase Deficiency or affiliated genes

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Publications for Adenylosuccinase Deficiency

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Articles related to Adenylosuccinase Deficiency:

(show all 23)
idTitleAuthorsYear
1
An in silico approach for identification of novel inhibitors as a potential therapeutics targeting HIV-1 viral infectivity factor. (25579575)
2015
2
microRNA-146 up-regulation predicts the prognosis of non-small cell lung cancer by miRNA in situ hybridization. (24448024)
2014
3
Hibernoma of the thigh: a lipoma-like variant rare tumour mimicking soft tissue sarcoma. (23203180)
2012
4
Association of schizophrenia with the phenylthiocarbamide taste receptor haplotype on chromosome 7q. (22955840)
2012
5
A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds. (20962036)
2011
6
Japanese encephalitis virus induce immuno-competency in neural stem/progenitor cells. (19956550)
2009
7
High risk of early neurological recurrence in symptomatic carotid stenosis. (19498196)
2009
8
Nateglinide and glibenclamide metabolic effects in naA^ve type 2 diabetic patients treated with metformin. (19125899)
2009
9
Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. (19922329)
2009
10
Extended cervical mediastinoscopy in the staging of bronchogenic carcinoma of the left lung. (18760928)
2008
11
Expression of L-type amino acid transporter 1 (LAT1) in neuroendocrine tumors of the lung. (18440724)
2008
12
Etiology and portal vein thrombosis in Budd-Chiari syndrome. (18473410)
2008
13
Genetic polymorphisms of LMP/TAP gene and hepatitis B virus infection risk in the Chinese population. (17525827)
2007
14
Verrucous facial plaques--blastomycosis. (16549719)
2006
15
Congenital heart defects, maternal homocysteine, smoking, and the 677 C&gt;T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions. (16389035)
2006
16
Application of upper extremity radionuclide venography as a diagnostic approach for Port-A catheter thrombosis. (16970271)
2006
17
Nitric oxide prevents 6-hydroxydopamine-induced apoptosis in PC12 cells through cGMP-dependent PI3 kinase/Akt activation. (12773486)
2003
18
Cyclooxygenase-2-derived E prostaglandins down-regulate matrix metalloproteinase-1 expression in fibroblast-like synoviocytes via inhibition of extracellular signal-regulated kinase activation. (14634122)
2003
19
Syntheses of ketonated disulfide-bridged diruthenium complexes via C-H bond activation and C-S bond formation. (11198846)
2000
20
A free-flow electrophoresis chip device for interfacing capillary isoelectric focusing on-line with electrospray mass spectrometry. (10918379)
2000
21
Molecular basis of the Dark Agouti rat drug oxidation polymorphism: importance of CYP2D1 and CYP2D2. (9511184)
1998
22
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. (7887419)
1995
23
Genital strains of human pleuropneumonia-like organisms. (13958699)
1963

Variations for Adenylosuccinase Deficiency

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

67 (show all 27)
id Symbol AA change Variation ID SNP ID
1ADSLp.Ser438ProVAR_000680
2ADSLp.Ile72ValVAR_007972
3ADSLp.Arg141TrpVAR_007973
4ADSLp.Arg190GlnVAR_007974rs28941471
5ADSLp.Lys246GluVAR_007975
6ADSLp.Arg303CysVAR_007976
7ADSLp.Ser395ArgVAR_007977
8ADSLp.Arg426HisVAR_007978
9ADSLp.Ala2ValVAR_016930rs143083947
10ADSLp.Met26LeuVAR_016931
11ADSLp.Thr450SerVAR_016932
12ADSLp.Ala3ValVAR_017078
13ADSLp.Pro100AlaVAR_017079
14ADSLp.Tyr114HisVAR_017080
15ADSLp.Arg194CysVAR_017081
16ADSLp.Asp268AsnVAR_017082
17ADSLp.Leu311ValVAR_017083
18ADSLp.Pro318LeuVAR_017084
19ADSLp.Val364MetVAR_017085
20ADSLp.Arg374TrpVAR_017086
21ADSLp.Arg396CysVAR_017087
22ADSLp.Arg396HisVAR_017088
23ADSLp.Asp422TyrVAR_017089
24ADSLp.Leu423ValVAR_017090
25ADSLp.Asp430AsnVAR_017091
26ADSLp.Ser447ProVAR_017092
27ADSLp.Arg452ProVAR_017093

Clinvar genetic disease variations for Adenylosuccinase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADSLNM_000026.3(ADSL): c.340T> C (p.Tyr114His)single nucleotide variantPathogenicrs374259530GRCh37Chr 22, 40746022: 40746022
2ADSLNM_000026.3(ADSL): c.1277G> A (p.Arg426His)single nucleotide variantLikely pathogenic, Pathogenicrs119450941GRCh37Chr 22, 40760969: 40760969
3ADSLNM_000026.3(ADSL): c.1312T> C (p.Ser438Pro)single nucleotide variantPathogenicrs119450940GRCh37Chr 22, 40761004: 40761004
4ADSLNM_000026.3(ADSL): c.1277G> A (p.Arg426His)single nucleotide variantLikely pathogenic, Pathogenicrs119450941GRCh37Chr 22, 40760969: 40760969
5ADSLNM_000026.3(ADSL): c.298C> G (p.Pro100Ala)single nucleotide variantPathogenicrs119450942GRCh37Chr 22, 40745980: 40745980
6ADSLNM_000026.3(ADSL): c.1264G> T (p.Asp422Tyr)single nucleotide variantPathogenicrs119450943GRCh37Chr 22, 40760956: 40760956
7ADSLNM_000026.3(ADSL): c.569G> A (p.Arg190Gln)single nucleotide variantPathogenicrs28941471GRCh37Chr 22, 40754954: 40754954
8ADSLNM_000026.3(ADSL): c.736A> G (p.Lys246Glu)single nucleotide variantPathogenicrs119450944GRCh37Chr 22, 40756440: 40756440
9ADSLADSL, -49T-Csingle nucleotide variantPathogenic
10ADSLNM_000026.3(ADSL): c.674T> C (p.Met225Thr)single nucleotide variantPathogenicrs119450945GRCh37Chr 22, 40755283: 40755283

Expression for genes affiliated with Adenylosuccinase Deficiency

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Search GEO for disease gene expression data for Adenylosuccinase Deficiency.

Pathways for genes affiliated with Adenylosuccinase Deficiency

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GO Terms for genes affiliated with Adenylosuccinase Deficiency

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Sources for Adenylosuccinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet