MCID: ADN022
MIFTS: 39

Adenylosuccinase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Adenylosuccinase Deficiency

About this section
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
See all sources

Aliases & Descriptions for Adenylosuccinase Deficiency:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Adenylosuccinase Deficiency

About this section
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 hypotonia and aica-ribosiduria, and has symptoms including happy demeanor, autosomal recessive inheritance and wide mouth. 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

About this section

Diseases related to Adenylosuccinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypotonia10.4
2aica-ribosiduria10.2
3microcephaly10.2
4encephalopathy10.2

Symptoms for Adenylosuccinase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

103050

Clinical features from OMIM:

103050

HPO human phenotypes related to Adenylosuccinase Deficiency:

(show all 38)
id Description Frequency HPO Source Accession
1 happy demeanor rare (5%) HP:0040082
2 autosomal recessive inheritance HP:0000007
3 wide mouth HP:0000154
4 thin upper lip vermilion HP:0000219
5 brachycephaly HP:0000248
6 microcephaly HP:0000252
7 smooth philtrum HP:0000319
8 long philtrum HP:0000343
9 low-set ears HP:0000369
10 anteverted nares HP:0000463
11 strabismus HP:0000486
12 nystagmus HP:0000639
13 autism HP:0000717
14 aggressive behavior HP:0000718
15 self-mutilation HP:0000742
16 inappropriate laughter HP:0000748
17 delayed speech and language development HP:0000750
18 hyperactivity HP:0000752
19 poor eye contact HP:0000817
20 intellectual disability HP:0001249
21 seizures HP:0001250
22 muscular hypotonia HP:0001252
23 global developmental delay HP:0001263
24 cerebellar atrophy HP:0001272
25 myoclonus HP:0001336
26 brisk reflexes HP:0001348
27 growth delay HP:0001510
28 cerebral atrophy HP:0002059
29 gait ataxia HP:0002066
30 opisthotonus HP:0002179
31 inability to walk HP:0002540
32 short nose HP:0003196
33 skeletal muscle atrophy HP:0003202
34 cns hypomyelination HP:0003429
35 infantile onset HP:0003593
36 prominent metopic ridge HP:0005487
37 cerebral hypomyelination HP:0006808
38 severe global developmental delay HP:0011344

Drugs & Therapeutics for Adenylosuccinase Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Adenylosuccinase Deficiency

Genetic Tests for Adenylosuccinase Deficiency

About this section

Genetic tests related to Adenylosuccinase Deficiency:

id Genetic test Affiliating Genes
1 Adenylosuccinase Deficiency22 ADSL
2 Adenylosuccinate Lyase Deficiency24

Anatomical Context for Adenylosuccinase Deficiency

About this section

MalaCards organs/tissues related to Adenylosuccinase Deficiency:

33
Brain, Eye, Skeletal muscle, Testes

Animal Models for Adenylosuccinase Deficiency or affiliated genes

About this section

Publications for Adenylosuccinase Deficiency

About this section

Articles related to Adenylosuccinase Deficiency:

(show all 22)
idTitleAuthorsYear
1
Isolated neonatal seizures: adenylosuccinase deficiency is another cause! (22883297)
2012
2
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency. (18368630)
2008
3
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. (11042421)
2000
4
Autism and adenylosuccinase deficiency. (10714045)
2000
5
Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency. (9989253)
1999
6
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. (10727185)
1999
7
Adenylosuccinase deficiency]. (9590095)
1998
8
Genetic basis of adenylosuccinase deficiency in an Italian patient. (9598084)
1998
9
Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study. (9598074)
1998
10
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death. (9553952)
1998
11
Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. (9211192)
1997
12
Adenylosuccinase deficiency presenting with epilepsy in early infancy. (9266401)
1997
13
Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. (9266351)
1997
14
Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. (8412002)
1993
15
Functional studies in fibroblasts of adenylosuccinase-deficient children. (8412003)
1993
16
Adenylosuccinase deficiency: a newly recognized variant. (1405483)
1992
17
Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children. (1781383)
1991
18
Urine test for adenylosuccinase deficiency in autistic children. (2563072)
1989
19
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. (3234432)
1988
20
Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles. (3728154)
1986
21
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. (3719985)
1986
22
Adenylosuccinase deficiency. (3014834)
1986

Variations for Adenylosuccinase Deficiency

About this section

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_000026.2(ADSL): c.340T> C (p.Tyr114His)single nucleotide variantPathogenicrs374259530GRCh37Chr 22, 40746022: 40746022
2ADSLNM_000026.2(ADSL): c.1277G> A (p.Arg426His)single nucleotide variantLikely pathogenic, Pathogenicrs119450941GRCh37Chr 22, 40760969: 40760969
3ADSLNM_000026.2(ADSL): c.1312T> C (p.Ser438Pro)single nucleotide variantPathogenicrs119450940GRCh37Chr 22, 40761004: 40761004
4ADSLNM_000026.2(ADSL): c.1277G> A (p.Arg426His)single nucleotide variantLikely pathogenic, Pathogenicrs119450941GRCh37Chr 22, 40760969: 40760969
5ADSLNM_000026.2(ADSL): c.298C> G (p.Pro100Ala)single nucleotide variantPathogenicrs119450942GRCh37Chr 22, 40745980: 40745980
6ADSLNM_000026.2(ADSL): c.1264G> T (p.Asp422Tyr)single nucleotide variantPathogenicrs119450943GRCh37Chr 22, 40760956: 40760956
7ADSLNM_000026.2(ADSL): c.569G> A (p.Arg190Gln)single nucleotide variantPathogenicrs28941471GRCh37Chr 22, 40754954: 40754954
8ADSLNM_000026.2(ADSL): c.736A> G (p.Lys246Glu)single nucleotide variantPathogenicrs119450944GRCh37Chr 22, 40756440: 40756440
9ADSLADSL, -49T-Csingle nucleotide variantPathogenic
10ADSLNM_000026.2(ADSL): c.674T> C (p.Met225Thr)single nucleotide variantPathogenicrs119450945GRCh37Chr 22, 40755283: 40755283

Expression for genes affiliated with Adenylosuccinase Deficiency

About this section
Search GEO for disease gene expression data for Adenylosuccinase Deficiency.

Pathways for genes affiliated with Adenylosuccinase Deficiency

About this section

GO Terms for genes affiliated with Adenylosuccinase Deficiency

About this section

Sources for Adenylosuccinase Deficiency

About this section
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