MCID: ADN022
MIFTS: 24

Adenylosuccinase Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Adenylosuccinase Deficiency

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 microcephaly. An important gene associated with Adenylosuccinase Deficiency is ADSL (adenylosuccinate lyase).

Description from OMIM:46 103050

Aliases & Classifications for Adenylosuccinase Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
adenylosuccinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

adenylosuccinase deficiency 42 20 46 48
adenylosuccinate lyase deficiency 42 48 60
adsl deficiency 42 48


External Ids:

ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet57 15285008
UMLS via Orphanet61 C0268126
OMIM46 103050
MESH via Orphanet35 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
2microcephaly10.1
3adenylosuccinate lyase deficiency10.1

Clinical Features for Adenylosuccinase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

103050

Clinical synopsis from OMIM:

103050

Drugs & Therapeutics for Adenylosuccinase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Adenylosuccinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Adenylosuccinase Deficiency

Search NIH Clinical Center for Adenylosuccinase Deficiency

Search CenterWatch 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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Animal Models for Adenylosuccinase Deficiency or affiliated genes

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Publications for Adenylosuccinase Deficiency

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Genetic Variations for Adenylosuccinase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Adenylosuccinase Deficiency:

62 (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

Expression for genes affiliated with Adenylosuccinase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adenylosuccinase Deficiency

Search GEO for disease gene expression data for Adenylosuccinase Deficiency.

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet