MCID: ACT240
MIFTS: 25

Actn3 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Actn3 Deficiency

MalaCards integrated aliases for Actn3 Deficiency:

Name: Actn3 Deficiency 57 29 6 71
Sprinting Performance 57 29 6
Alpha-Actinin-3 Deficiency 57 39

Classifications:



External Ids:

OMIM® 57 617749
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Actn3 Deficiency, also known as sprinting performance, is related to hutterite cerebroosteonephrodysplasia syndrome and developmental coordination disorder. An important gene associated with Actn3 Deficiency is ACTN3 (Actinin Alpha 3). The drugs Pharmaceutical Solutions and Anti-Asthmatic Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and bone.

Wikipedia : 74 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 hutterite cerebroosteonephrodysplasia syndrome 10.1
2 developmental coordination disorder 10.0
3 developmental dyspraxia 10.0

Symptoms & Phenotypes for Actn3 Deficiency

Clinical features from OMIM®:

617749 (Updated 05-Mar-2021)

Drugs & Therapeutics for Actn3 Deficiency

Drugs for Actn3 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions
2 Anti-Asthmatic Agents
3 Respiratory System Agents
4 Adrenergic beta-Agonists
5 Adrenergic Agents
6 Neurotransmitter Agents
7 Albuterol
8 Tocolytic Agents
9 Bronchodilator Agents
10 Adrenergic Agonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sprint Performance in Football Players With a Previous Hamstring Injury Compared to Healthy Controls: An Exploratory Cross-sectional Study Completed NCT03306511
2 The Effect of Dietary Nitrate Supplementation on Linear Running Sprint Performance, Agility and Vertical Jump Performance in a Rested and Fatigued State Completed NCT03565523
3 Foam Rolling and Tissue Flossing of the Cuff Muscles: Acute Effect on Jump Height, Sprint Performance and Achilles Tendon Stiffness Completed NCT04367532
4 The Effect of Inhaled Salbutamol on Sprint Performance During and After Submaximal Endurance Exercise in Non-asthmatic Athletes Not yet recruiting NCT04402658 Inhaled salbutamol

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 29
2 Actn3 Deficiency 29 ACTN3

Anatomical Context for Actn3 Deficiency

MalaCards organs/tissues related to Actn3 Deficiency:

40
Skeletal Muscle, Bone

Publications for Actn3 Deficiency

Articles related to Actn3 Deficiency:

(show top 50) (show all 212)
# Title Authors PMID Year
1
The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. 6 57
18043716 2008
2
No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. 6 57
17627799 2007
3
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. 6 57
17828264 2007
4
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. 57 6
17033684 2007
5
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. 6 57
15886711 2005
6
ACTN3 genotype is associated with human elite athletic performance. 6 57
12879365 2003
7
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. 6 57
10192379 1999
8
Performance constraints in decathletes. 57
11845199 2002
9
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. 6
11440986 2001
10
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. 6
10797427 2000
11
Implementing High-speed Running and Sprinting Training in Professional Soccer. 61
33291180 2020
12
Effects of Plyometric Jump Training on Jump and Sprint Performance in Young Male Soccer Players: A Systematic Review and Meta-analysis. 61
32915430 2020
13
SPRINT PERFORMANCE IN FOOTBALL (SOCCER) PLAYERS WITH AND WITHOUT A PREVIOUS HAMSTRING STRAIN INJURY: AN EXPLORATIVE CROSS-SECTIONAL STUDY. 61
33344011 2020
14
Kinematics and Kinetics of Bulgarian-Bag-Overloaded Sprints in Young Athletes. 61
33203073 2020
15
Effects of forearm wearable resistance on acceleration mechanics in collegiate track sprinters. 61
31973687 2020
16
Effects of Unloaded vs. Ankle-Loaded Plyometric Training on the Physical Fitness of U-17 Male Soccer Players. 61
33121121 2020
17
The Muscle Morphology of Elite Sprint Running. 61
33009196 2020
18
The importance of duration and magnitude of force application to sprint performance during the initial acceleration, transition and maximal velocity phases. 61
32627681 2020
19
Gender-Related Differences in Mechanics of the Sprint Start and Sprint Acceleration of Top National-Level Sprinters. 61
32899837 2020
20
Postactivation potentiation effects of Back Squat and Barbell Hip Thrust exercise on vertical jump and sprinting performance. 61
32586077 2020
21
Does the initial level of horizontal force determine the magnitude of improvement in acceleration performance in rugby? 61
32627683 2020
22
Sprint acceleration characteristics across the Australian football participation pathway. 61
32757738 2020
23
Effect of active versus passive recovery on performance-related outcome during high - intensity interval exercise: a systematic review. 61
32744041 2020
24
Performing Soccer-Specific Training With Blood Flow Restriction Enhances Physical Capacities in Youth Soccer Players. 61
32732777 2020
25
The addition of β-Hydroxy β-Methylbutyrate (HMB) to creatine monohydrate supplementation does not improve anthropometric and performance maintenance across a collegiate rugby season. 61
32460801 2020
26
The effects of lower limb wearable resistance on sprint running performance: A systematic review. 61
31177935 2020
27
CYP1A2 genotype and acute effects of caffeine on resistance exercise, jumping, and sprinting performance. 61
32295624 2020
28
The Effect of Tissue Flossing on Ankle Range of Motion, Jump, and Sprint Performance in Elite Rugby Union Athletes. 61
30676229 2020
29
Joint moments and power in the acceleration phase of bend sprinting. 61
31987576 2020
30
Inertial measurement unit-based hip flexion test as an indicator of sprint performance. 61
31623521 2020
31
Examination of Self-Myofascial Release vs. Instrument-Assisted Soft-Tissue Mobilization Techniques on Vertical and Horizontal Power in Recreational Athletes. 61
29742744 2020
32
A Pilot Study to Examine the Impact of Beta-Alanine Supplementation on Anaerobic Exercise Performance in Collegiate Rugby Athletes. 61
31703346 2019
33
Children's Repetitive and Intermittent Sprinting Performance (CRISP) Test: A new field-based test for assessing anaerobic power and repeated sprint performance in children with developmental coordination disorder. 61
31437755 2019
34
Effects of Playing Surface on Physical, Physiological, and Perceptual Responses to a Repeated-Sprint Ability Test: Natural Grass Versus Artificial Turf. 61
30860407 2019
35
Bend sprinting performance: new insights into the effect of running lane. 61
29562837 2019
36
The influence of biological maturity on motor performance among habitually barefoot versus habitually shod adolescents. 61
30422752 2019
37
Age-related differences in kinematics and kinetics of sprinting in young female. 61
30697820 2019
38
Sprint running kinematics and kinetics in pre-peak-height-velocity male children on a non-motorised treadmill: reliability and normative data. 61
29869927 2019
39
The Effect of Ballistic Exercise as Pre-Activation for 100 m Sprints. 61
31137756 2019
40
Dribbling speed along curved paths predicts attacking performance in match-realistic one vs. one soccer games. 61
30470166 2019
41
The stiffness response of type IIa fibres after eccentric exercise-induced muscle damage is dependent on ACTN3 r577X polymorphism. 61
30360698 2019
42
The Influence of Hamstring Muscle Peak Torque and Rate of Torque Development for Sprinting Performance in Football Players: A Cross-Sectional Study. 61
30427242 2019
43
Effects of Adding Vertical or Horizontal Force-Vector Exercises to In-season General Strength Training on Jumping and Sprinting Performance of Youth Football Players. 61
31145387 2019
44
Caffeine and Sprint Cycling Performance: Effects of Torque Factor and Sprint Duration. 61
30204516 2019
45
Can we use GPS for assessing sprinting performance in rugby sevens? A concurrent validity and between-device reliability study. 61
30899136 2019
46
Acute Kinematic Effects of Sprinting With Motorized Assistance. 61
30946271 2019
47
Leg amputation side determines performance in curve sprinting: a case study on a Paralympic medalist. 61
29132264 2019
48
Ecological and Construct Validity of a Repeated Sprint Test in Male Youth Soccer Players. 61
30694965 2019
49
How to Evaluate and Improve Foot Strength in Athletes: An Update. 61
33344969 2019
50
Dissociation between changes in sprinting performance and Nordic hamstring strength in professional male football players. 61
30870442 2019

Variations for Actn3 Deficiency

ClinVar genetic disease variations for Actn3 Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTN3 NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) SNV Affects 18312 rs1815739 11:66328095-66328095 11:66560624-66560624
2 ACTN3 NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) SNV Pathogenic 18312 rs1815739 11:66328095-66328095 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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