MCID: ACT240
MIFTS: 16

Actn3 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Actn3 Deficiency

MalaCards integrated aliases for Actn3 Deficiency:

Name: Actn3 Deficiency 57 29 6 73
Sprinting Performance 57 29 6
Alpha-Actinin-3 Deficiency 57 40
Actinin, Alpha-3 13

Classifications:



External Ids:

OMIM 57 617749
UMLS 73 C3888204

Summaries for Actn3 Deficiency

OMIM : 57 Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene. Expression of alpha-actinin-3 is limited to a subset of type 2 (fast) fibers. No disease phenotype is associated with this deficiency (North et al., 1999). (617749)

MalaCards based summary : Actn3 Deficiency, also known as sprinting performance, is related to hypoglycemia. An important gene associated with Actn3 Deficiency is ACTN3 (Actinin Alpha 3 (Gene/Pseudogene)). Affiliated tissues include skeletal muscle.

Wikipedia : 76 Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein,... more...

Related Diseases for Actn3 Deficiency

Diseases related to Actn3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypoglycemia 9.8

Symptoms & Phenotypes for Actn3 Deficiency

Clinical features from OMIM:

617749

Drugs & Therapeutics for Actn3 Deficiency

Search Clinical Trials , NIH Clinical Center for Actn3 Deficiency

Genetic Tests for Actn3 Deficiency

Genetic tests related to Actn3 Deficiency:

# Genetic test Affiliating Genes
1 Sprinting Performance 29
2 Actn3 Deficiency 29

Anatomical Context for Actn3 Deficiency

MalaCards organs/tissues related to Actn3 Deficiency:

41
Skeletal Muscle

Publications for Actn3 Deficiency

Articles related to Actn3 Deficiency:

# Title Authors Year
1
Effects of acute supplementation of L-arginine and nitrate on endurance and sprint performance in elite athletes. ( 25445632 )
2015
2
MCT1 A1470T: a novel polymorphism for sprint performance? ( 24485392 )
2015
3
Transference effect of vertical and horizontal plyometrics on sprint performance of high-level U-20 soccer players. ( 26390150 )
2015
4
Genes for elite power and sprint performance: ACTN3 leads the way. ( 23681449 )
2013
5
A 10-s sprint performed after moderate-intensity exercise neither increases nor decreases the glucose requirement to prevent late-onset hypoglycemia in individuals with type 1 diabetes. ( 24130362 )
2013
6
Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance? ( 20005538 )
2010
7
Is there an ACE ID - ACTN3 R577X polymorphisms interaction that influences sprint performance? ( 20013558 )
2009

Variations for Actn3 Deficiency

Expression for Actn3 Deficiency

Search GEO for disease gene expression data for Actn3 Deficiency.

Pathways for Actn3 Deficiency

GO Terms for Actn3 Deficiency

Sources for Actn3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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