MCID: ADN022
MIFTS: 35

Adenylosuccinase Deficiency malady

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

Aliases & Classifications for Adenylosuccinase Deficiency

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Adenylosuccinase Deficiency:

Name: Adenylosuccinase Deficiency 52 48 24 25 54 70 12
Adenylosuccinate Lyase Deficiency 71 48 25 54 70 27 68
Adsl Deficiency 48 25 54 70
 
Succinylpurinemic Autism 25
Adenylosuccinate Lyase 12
Adsld 70

Characteristics:

Orphanet epidemiological data:

54
adenylosuccinate lyase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal

HPO:

64
adenylosuccinase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 103050
Orphanet54 ORPHA46
ICD10 via Orphanet31 E79.8
MESH via Orphanet40 C538235
UMLS via Orphanet69 C0268126
MedGen37 C0268126
MeSH39 D011686

Summaries for Adenylosuccinase Deficiency

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OMIM:52 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 epilepsy and microcephaly, and has symptoms including happy demeanor, wide mouth and thin upper lip vermilion. An important gene associated with Adenylosuccinase Deficiency is ADSL (Adenylosuccinate Lyase). Affiliated tissues include brain, eye and skeletal muscle.

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.

NIH Rare Diseases:48 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:70 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:71 Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal... more...

Related Diseases for Adenylosuccinase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1epilepsy10.0
2microcephaly9.8
3encephalopathy9.8

Symptoms & Phenotypes for Adenylosuccinase Deficiency

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Symptoms by clinical synopsis from OMIM:

103050

Clinical features from OMIM:

103050

Human phenotypes related to Adenylosuccinase Deficiency:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 happy demeanor64 rare (5%) HP:0040082
2 wide mouth64 HP:0000154
3 thin upper lip vermilion64 HP:0000219
4 brachycephaly64 HP:0000248
5 microcephaly64 HP:0000252
6 smooth philtrum64 HP:0000319
7 long philtrum64 HP:0000343
8 low-set ears64 HP:0000369
9 anteverted nares64 HP:0000463
10 strabismus64 HP:0000486
11 nystagmus64 HP:0000639
12 autism64 HP:0000717
13 aggressive behavior64 HP:0000718
14 self-mutilation64 HP:0000742
15 inappropriate laughter64 HP:0000748
16 delayed speech and language development64 HP:0000750
17 hyperactivity64 HP:0000752
18 poor eye contact64 HP:0000817
19 intellectual disability64 HP:0001249
20 seizures64 HP:0001250
21 muscular hypotonia64 HP:0001252
22 global developmental delay64 HP:0001263
23 cerebellar atrophy64 HP:0001272
24 myoclonus64 HP:0001336
25 brisk reflexes64 HP:0001348
26 growth delay64 HP:0001510
27 cerebral atrophy64 HP:0002059
28 gait ataxia64 HP:0002066
29 opisthotonus64 HP:0002179
30 inability to walk64 HP:0002540
31 short nose64 HP:0003196
32 skeletal muscle atrophy64 HP:0003202
33 cns hypomyelination64 HP:0003429
34 prominent metopic ridge64 HP:0005487
35 cerebral hypomyelination64 HP:0006808
36 severe global developmental delay64 HP:0011344

UMLS symptoms related to Adenylosuccinase Deficiency:


muscle spasticity, myoclonus, opisthotonus, gait ataxia

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 Adenylosuccinate Lyase Deficiency27
2 Adenylosuccinase Deficiency24 ADSL

Anatomical Context for Adenylosuccinase Deficiency

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MalaCards organs/tissues related to Adenylosuccinase Deficiency:

36
Brain, Eye, Skeletal muscle, Testes

Publications for Adenylosuccinase Deficiency

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Articles related to Adenylosuccinase Deficiency:

(show all 23)
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
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death. (9553952)
1998
9
Genetic basis of adenylosuccinase deficiency in an Italian patient. (9598084)
1998
10
Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study. (9598074)
1998
11
Adenylosuccinase deficiency presenting with epilepsy in early infancy. (9266401)
1997
12
Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. (9211192)
1997
13
Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. (9266351)
1997
14
Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. (8598641)
1995
15
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
16
Functional studies in fibroblasts of adenylosuccinase-deficient children. (8412003)
1993
17
Adenylosuccinase deficiency: a newly recognized variant. (1405483)
1992
18
Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children. (1781383)
1991
19
Urine test for adenylosuccinase deficiency in autistic children. (2563072)
1989
20
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. (3234432)
1988
21
Adenylosuccinase deficiency. (3014834)
1986
22
Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles. (3728154)
1986
23
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. (3719985)
1986

Variations for Adenylosuccinase Deficiency

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

70 (show all 27)
id Symbol AA change Variation ID SNP ID
1ADSLp.Ser438ProVAR_000680rs119450940
2ADSLp.Ile72ValVAR_007972
3ADSLp.Arg141TrpVAR_007973rs756210458
4ADSLp.Arg190GlnVAR_007974rs28941471
5ADSLp.Lys246GluVAR_007975rs119450944
6ADSLp.Arg303CysVAR_007976rs373458753
7ADSLp.Ser395ArgVAR_007977
8ADSLp.Arg426HisVAR_007978rs119450941
9ADSLp.Ala2ValVAR_016930rs143083947
10ADSLp.Met26LeuVAR_016931
11ADSLp.Thr450SerVAR_016932rs372895468
12ADSLp.Ala3ValVAR_017078
13ADSLp.Pro100AlaVAR_017079rs119450942
14ADSLp.Tyr114HisVAR_017080rs374259530
15ADSLp.Arg194CysVAR_017081
16ADSLp.Asp268AsnVAR_017082rs746501563
17ADSLp.Leu311ValVAR_017083
18ADSLp.Pro318LeuVAR_017084rs202064195
19ADSLp.Val364MetVAR_017085rs370851726
20ADSLp.Arg374TrpVAR_017086rs376533026
21ADSLp.Arg396CysVAR_017087rs755492501
22ADSLp.Arg396HisVAR_017088rs763542069
23ADSLp.Asp422TyrVAR_017089rs119450943
24ADSLp.Leu423ValVAR_017090
25ADSLp.Asp430AsnVAR_017091rs554254383
26ADSLp.Ser447ProVAR_017092rs777821034
27ADSLp.Arg452ProVAR_017093

Clinvar genetic disease variations for Adenylosuccinase Deficiency:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ADSLNM_000026.3(ADSL): c.953C> T (p.Pro318Leu)SNVPathogenicrs202064195GRCh37Chr 22, 40757582: 40757582
2ADSLNM_000026.3(ADSL): c.340T> C (p.Tyr114His)SNVPathogenicrs374259530GRCh37Chr 22, 40746022: 40746022
3ADSLNM_000026.3(ADSL): c.1277G> A (p.Arg426His)SNV, CompoundHeterozygotePathogenicrs119450941GRCh37Chr 22, 40760969: 40760969
4ADSLNM_000026.3(ADSL): c.1312T> C (p.Ser438Pro)SNVPathogenicrs119450940GRCh37Chr 22, 40761004: 40761004
5ADSLNM_000026.3(ADSL): c.298C> G (p.Pro100Ala)SNVPathogenicrs119450942GRCh37Chr 22, 40745980: 40745980
6ADSLNM_000026.3(ADSL): c.1264G> T (p.Asp422Tyr)SNVPathogenicrs119450943GRCh37Chr 22, 40760956: 40760956
7ADSLNM_000026.3(ADSL): c.569G> A (p.Arg190Gln)SNVPathogenicrs28941471GRCh37Chr 22, 40754954: 40754954
8ADSLNM_000026.3(ADSL): c.736A> G (p.Lys246Glu)SNVPathogenicrs119450944GRCh37Chr 22, 40756440: 40756440
9ADSLADSL, -49T-CSNVPathogenicChr na, -1: -1
10ADSLNM_000026.3(ADSL): c.674T> C (p.Met225Thr)SNVPathogenicrs119450945GRCh37Chr 22, 40755283: 40755283
11ADSLNM_000026.3(ADSL): c.907C> T (p.Arg303Cys)SNVPathogenicrs373458753GRCh37Chr 22, 40757536: 40757536

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet