MCID: ACT240
MIFTS: 21

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 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 : 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 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

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 ACTN3

Anatomical Context for Actn3 Deficiency

MalaCards organs/tissues related to Actn3 Deficiency:

41
Skeletal Muscle, Testes

Publications for Actn3 Deficiency

Articles related to Actn3 Deficiency:

(show all 42)
# Title Authors Year
1
Bend sprinting performance: new insights into the effect of running lane. ( 29562837 )
2018
2
Correlation of dynamic strength in the standing calf raise with sprinting performance in consecutive sections up to 30 meters. ( 29963928 )
2018
3
Validity of Critical Velocity Concept for Weighted Sprinting Performance. ( 30147825 )
2018
4
Relationship Between Maximal Dynamic Force in the Deep Back Squat and Sprinting Performance in Consecutive Segments Up to 30 m. ( 30273292 )
2018
5
Differences in sprinting performance and kinematics between preadolescent boys who are fore/mid and rear foot strikers. ( 30335813 )
2018
6
The Influence of Hamstring Muscle Peak Torque and Rate Of Torque Development for Sprinting Performance in Football Players: A Cross-Sectional Study. ( 30427242 )
2018
7
Association of Step Width with Accelerated Sprinting Performance and Ground Reaction Force. ( 28482364 )
2017
8
A Model for Determining the Effect of the Wind Velocity on 100 m Sprinting Performance. ( 28713468 )
2017
9
Influence of shoe sole bending stiffness on sprinting performance. ( 29083127 )
2017
10
Development of maximal speed sprinting performance with changes in vertical, leg and joint stiffness. ( 27406013 )
2017
11
Modeling Longitudinal Changes in 5 m Sprinting Performance Among Young Male Tennis Players. ( 27420323 )
2016
12
Validity of a Smartphone-Based Application for Determining Sprinting Performance. ( 27525305 )
2016
13
The power output and sprinting performance of young swimmers. ( 25029007 )
2015
14
Sprinting performance and resistance-based training interventions: a systematic review. ( 25268287 )
2015
15
Sprinting performance on the Woodway Curve 3.0 is related to muscle architecture. ( 25334069 )
2015
16
The influence of officer equipment and protection on short sprinting performance. ( 25479975 )
2015
17
Adopting an external focus of attention improves sprinting performance in low-skilled sprinters. ( 25811269 )
2015
18
Tensiomyography parameters and jumping and sprinting performance in Brazilian elite soccer players. ( 26271313 )
2015
19
Resisted sprints do not acutely enhance sprinting performance. ( 24378662 )
2014
20
Speed, force, and power values produced from nonmotorized treadmill test are related to sprinting performance. ( 24950225 )
2014
21
Strength and power predictors of sprinting performance in professional rugby players. ( 23584316 )
2013
22
Effect of capsaicin supplementation on repeated sprinting performance. ( 22130402 )
2012
23
Baseline strength can influence the ability of salivary free testosterone to predict squat and sprinting performance. ( 22201698 )
2012
24
Caffeine and sprinting performance: dose responses and efficacy. ( 22388491 )
2012
25
Ankle moment generation and maximum-effort curved sprinting performance. ( 23022207 )
2012
26
Environmental differences in substrate mechanics do not affect sprinting performance in sand lizards (Uma scoparia and Callisaurus draconoides). ( 21147976 )
2011
27
Does on-field sprinting performance in young soccer players depend on how fast they can run or how fast they do run? ( 21768891 )
2011
28
Effect of squatting on sprinting performance and repeated exposure to complex training in male rugby players. ( 20145557 )
2010
29
Influence of postactivation potentiation on sprinting performance in professional rugby players. ( 20145565 )
2010
30
Effect of menstrual cycle phase on sprinting performance. ( 20198384 )
2010
31
Effect of plyometric training on chair-rise, jumping and sprinting performance in three age groups of women. ( 20585294 )
2010
32
Effects of backrest positioning and gear ratio on nondisabled subjects' handcycling sprinting performance and kinematics. ( 18566929 )
2008
33
Strength-power parameters as predictors of sprinting performance. ( 18997647 )
2008
34
Track compliance does not affect sprinting performance. ( 17852678 )
2007
35
Influence of familiarization on the reliability of vertical jump and acceleration sprinting performance in physically active men. ( 15142028 )
2004
36
Assessment of linear sprinting performance: a theoretical paradigm. ( 24624004 )
2004
37
The effect of a prophylactic dose of flurbiprofen on muscle soreness and sprinting performance in trained subjects. ( 10362386 )
1999
38
New insights into the effect of wind assistance on sprinting performance. ( 10373041 )
1999
39
Anthropometric, strength, and power predictors of sprinting performance. ( 10399419 )
1999
40
Is the post-lunch dip in sprinting performance associated with the timing of food ingestion? ( 9144846 )
1996
41
Relationship between strength qualities and sprinting performance. ( 7474987 )
1995
42
Optimisation of sprinting performance in running, cycling and speed skating. ( 8009139 )
1994

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 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
Content
Loading form....