MCID: ACT240
MIFTS: 22

Actn3 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Actn3 Deficiency

MalaCards integrated aliases for Actn3 Deficiency:

Name: Actn3 Deficiency 58 30 6 74
Sprinting Performance 58 30 6
Alpha-Actinin-3 Deficiency 58 41
Actinin, Alpha-3 13

Classifications:



External Ids:

OMIM 58 617749
UMLS 74 C3888204

Summaries for Actn3 Deficiency

OMIM : 58 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 arts syndrome and quadriplegia. An important gene associated with Actn3 Deficiency is ACTN3 (Actinin Alpha 3 (Gene/Pseudogene)). Affiliated tissues include skeletal muscle and testes.

Wikipedia : 77 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 arts syndrome 9.9
2 quadriplegia 9.9
3 hypoglycemia 9.9
4 hypoxia 9.9

Symptoms & Phenotypes for Actn3 Deficiency

Clinical features from OMIM:

617749

Drugs & Therapeutics for Actn3 Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TopSpin360 in Female Varsity Athletes Active, not recruiting NCT03844087 Phase 1, Phase 2

Search NIH Clinical Center for Actn3 Deficiency

Genetic Tests for Actn3 Deficiency

Genetic tests related to Actn3 Deficiency:

# Genetic test Affiliating Genes
1 Sprinting Performance 30
2 Actn3 Deficiency 30 ACTN3

Anatomical Context for Actn3 Deficiency

MalaCards organs/tissues related to Actn3 Deficiency:

42
Skeletal Muscle, Testes

Publications for Actn3 Deficiency

Articles related to Actn3 Deficiency:

(show top 50) (show all 53)
# Title Authors Year
1
The Influence of Hamstring Muscle Peak Torque and Rate of Torque Development for Sprinting Performance in Football Players: A Cross-Sectional Study. ( 30427242 )
2019
2
Dissociation between changes in sprinting performance and Nordic hamstring strength in professional male football players. ( 30870442 )
2019
3
Can we use GPS for assessing sprinting performance in rugby sevens? A concurrent validity and between-device reliability study. ( 30899136 )
2019
4
Influence of shoe sole bending stiffness on sprinting performance. ( 29083127 )
2018
5
Bend sprinting performance: new insights into the effect of running lane. ( 29562837 )
2018
6
Correlation of dynamic strength in the standing calf raise with sprinting performance in consecutive sections up to 30 meters. ( 29963928 )
2018
7
Validity of Critical Velocity Concept for Weighted Sprinting Performance. ( 30147825 )
2018
8
Relationship Between Maximal Dynamic Force in the Deep Back Squat and Sprinting Performance in Consecutive Segments Up to 30 m. ( 30273292 )
2018
9
Differences in sprinting performance and kinematics between preadolescent boys who are fore/mid and rear foot strikers. ( 30335813 )
2018
10
Development of maximal speed sprinting performance with changes in vertical, leg and joint stiffness. ( 27406013 )
2017
11
Association of Step Width with Accelerated Sprinting Performance and Ground Reaction Force. ( 28482364 )
2017
12
A Model for Determining the Effect of the Wind Velocity on 100 m Sprinting Performance. ( 28713468 )
2017
13
Modeling Longitudinal Changes in 5 m Sprinting Performance Among Young Male Tennis Players. ( 27420323 )
2016
14
Validity of a Smartphone-Based Application for Determining Sprinting Performance. ( 27525305 )
2016
15
The power output and sprinting performance of young swimmers. ( 25029007 )
2015
16
Sprinting performance and resistance-based training interventions: a systematic review. ( 25268287 )
2015
17
Sprinting performance on the Woodway Curve 3.0 is related to muscle architecture. ( 25334069 )
2015
18
The influence of officer equipment and protection on short sprinting performance. ( 25479975 )
2015
19
Adopting an external focus of attention improves sprinting performance in low-skilled sprinters. ( 25811269 )
2015
20
Tensiomyography parameters and jumping and sprinting performance in Brazilian elite soccer players. ( 26271313 )
2015
21
Resisted sprints do not acutely enhance sprinting performance. ( 24378662 )
2014
22
Speed, force, and power values produced from nonmotorized treadmill test are related to sprinting performance. ( 24950225 )
2014
23
Strength and power predictors of sprinting performance in professional rugby players. ( 23584316 )
2013
24
Effect of capsaicin supplementation on repeated sprinting performance. ( 22130402 )
2012
25
Baseline strength can influence the ability of salivary free testosterone to predict squat and sprinting performance. ( 22201698 )
2012
26
Caffeine and sprinting performance: dose responses and efficacy. ( 22388491 )
2012
27
Ankle moment generation and maximum-effort curved sprinting performance. ( 23022207 )
2012
28
Environmental differences in substrate mechanics do not affect sprinting performance in sand lizards (Uma scoparia and Callisaurus draconoides). ( 21147976 )
2011
29
Does on-field sprinting performance in young soccer players depend on how fast they can run or how fast they do run? ( 21768891 )
2011
30
Effect of squatting on sprinting performance and repeated exposure to complex training in male rugby players. ( 20145557 )
2010
31
Influence of postactivation potentiation on sprinting performance in professional rugby players. ( 20145565 )
2010
32
Effect of menstrual cycle phase on sprinting performance. ( 20198384 )
2010
33
Effect of plyometric training on chair-rise, jumping and sprinting performance in three age groups of women. ( 20585294 )
2010
34
Effects of backrest positioning and gear ratio on nondisabled subjects' handcycling sprinting performance and kinematics. ( 18566929 )
2008
35
Strength-power parameters as predictors of sprinting performance. ( 18997647 )
2008
36
The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. ( 18043716 )
2008
37
Track compliance does not affect sprinting performance. ( 17852678 )
2007
38
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. ( 17828264 )
2007
39
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. ( 17033684 )
2007
40
No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. ( 17627799 )
2007
41
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. ( 15886711 )
2005
42
Influence of familiarization on the reliability of vertical jump and acceleration sprinting performance in physically active men. ( 15142028 )
2004
43
Assessment of linear sprinting performance: a theoretical paradigm. ( 24624004 )
2004
44
ACTN3 genotype is associated with human elite athletic performance. ( 12879365 )
2003
45
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. ( 11440986 )
2001
46
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. ( 10797427 )
2000
47
The effect of a prophylactic dose of flurbiprofen on muscle soreness and sprinting performance in trained subjects. ( 10362386 )
1999
48
New insights into the effect of wind assistance on sprinting performance. ( 10373041 )
1999
49
Anthropometric, strength, and power predictors of sprinting performance. ( 10399419 )
1999
50
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. ( 10192379 )
1999

Variations for Actn3 Deficiency

ClinVar genetic disease variations for Actn3 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTN3 NM_001104.3(ACTN3): c.1729C> T (p.Arg577Ter) single nucleotide variant Conflicting interpretations of pathogenicity, Affects rs1815739 GRCh37 Chromosome 11, 66328095: 66328095
2 ACTN3 NM_001104.3(ACTN3): c.1729C> T (p.Arg577Ter) single nucleotide variant Conflicting interpretations of pathogenicity, Affects rs1815739 GRCh38 Chromosome 11, 66560624: 66560624

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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