MCID: ADN022
MIFTS: 28

Adenylosuccinase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Adenylosuccinase Deficiency

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Adenylosuccinase Deficiency, also known as adenylosuccinate lyase deficiency, is related to adenylosuccinase lyase deficiency and hypotonia. An important gene associated with Adenylosuccinase Deficiency is ADSL (adenylosuccinate lyase). Affiliated tissues include testes.

Description from OMIM:47 103050

Aliases & Classifications for Adenylosuccinase Deficiency

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43NIH Rare Diseases, 20GeneTests, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
adenylosuccinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

adenylosuccinase deficiency 43 20 47 49
adenylosuccinate lyase deficiency 43 49 62
adsl deficiency 43 49


External Ids:

ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet59 15285008
UMLS via Orphanet63 C0268126
OMIM47 103050
MESH via Orphanet36 C538235

Related Diseases for Adenylosuccinase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Adenylosuccinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenylosuccinase lyase deficiency10.3
2hypotonia10.3
3microcephaly10.2
4adenylosuccinate lyase deficiency10.2

Symptoms for Adenylosuccinase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

103050

Clinical features from OMIM:

103050

Drugs & Therapeutics for Adenylosuccinase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Adenylosuccinase Deficiency

Search NIH Clinical Center for Adenylosuccinase Deficiency

Genetic Tests for Adenylosuccinase Deficiency

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20GeneTests
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Genetic tests related to Adenylosuccinase Deficiency:

id Genetic test Affiliating Genes
1 Adenylosuccinase Deficiency20 ADSL

Anatomical Context for Adenylosuccinase Deficiency

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33MalaCards
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MalaCards organs/tissues related to Adenylosuccinase Deficiency:

33
Testes

Animal Models for Adenylosuccinase Deficiency or affiliated genes

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Publications for Adenylosuccinase Deficiency

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52PubMed
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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
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
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
Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles. (3728154)
1986
22
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. (3719985)
1986
23
Adenylosuccinase deficiency. (3014834)
1986

Variations for Adenylosuccinase Deficiency

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Adenylosuccinase Deficiency:

64 (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:

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
7ADSLADSL, -49T-Csingle nucleotide variantPathogenic
8ADSLNM_000026.2(ADSL): c.674T> C (p.Met225Thr)single nucleotide variantPathogenicrs119450945GRCh37Chr 22, 40755283: 40755283

Expression for genes affiliated with Adenylosuccinase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adenylosuccinase Deficiency

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Pathways for genes affiliated with Adenylosuccinase Deficiency

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Compounds for genes affiliated with Adenylosuccinase Deficiency

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GO Terms for genes affiliated with Adenylosuccinase Deficiency

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Products for genes affiliated with Adenylosuccinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenylosuccinase Deficiency

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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