MCID: ACT240
MIFTS: 24

Actn3 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Actn3 Deficiency

MalaCards integrated aliases for Actn3 Deficiency:

Name: Actn3 Deficiency 57 29 6 72
Sprinting Performance 57 29 6
Alpha-Actinin-3 Deficiency 57 40

Classifications:



External Ids:

OMIM 57 617749
UMLS 72 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 hutterite cerebroosteonephrodysplasia syndrome and hypoxia. An important gene associated with Actn3 Deficiency is ACTN3 (Actinin Alpha 3 (Gene/Pseudogene)). Affiliated tissues include skeletal muscle, testes and skin.

Wikipedia : 75 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 10.6
2 hypoxia 10.3
3 spinal cord injury 10.1
4 hand skill, relative 9.9
5 osteoporosis-pseudoglioma syndrome 9.9
6 arts syndrome 9.9
7 helix syndrome 9.9
8 metabolic acidosis 9.9
9 quadriplegia 9.9
10 hypoglycemia 9.9

Graphical network of the top 20 diseases related to Actn3 Deficiency:



Diseases related to Actn3 Deficiency

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 Effect of Training on the TopSpin360 on Neck Strength and 40-yard Dash Times in Female Varsity Level 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 29
2 Actn3 Deficiency 29 ACTN3

Anatomical Context for Actn3 Deficiency

MalaCards organs/tissues related to Actn3 Deficiency:

41
Skeletal Muscle, Testes, Skin, Bone

Publications for Actn3 Deficiency

Articles related to Actn3 Deficiency:

(show top 50) (show all 190)
# Title Authors PMID Year
1
The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. 8 71
18043716 2008
2
No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. 8 71
17627799 2007
3
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. 8 71
17828264 2007
4
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. 8 71
17033684 2007
5
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. 8 71
15886711 2005
6
ACTN3 genotype is associated with human elite athletic performance. 8 71
12879365 2003
7
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. 8 71
10192379 1999
8
Performance constraints in decathletes. 8
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. 71
11440986 2001
10
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. 71
10797427 2000
11
Bend sprinting performance: new insights into the effect of running lane. 38
29562837 2019
12
The effects of lower limb wearable resistance on sprint running performance: A systematic review. 38
31177935 2019
13
The Effect of Tissue Flossing on Ankle Range of Motion, Jump, and Sprint Performance in Elite Rugby Union Athletes. 38
30676229 2019
14
Age-related differences in kinematics and kinetics of sprinting in young female. 38
30697820 2019
15
Sprint running kinematics and kinetics in pre-peak-height-velocity male children on a non-motorised treadmill: reliability and normative data. 38
29869927 2019
16
The influence of biological maturity on motor performance among habitually barefoot versus habitually shod adolescents. 38
30422752 2019
17
The Influence of Hamstring Muscle Peak Torque and Rate of Torque Development for Sprinting Performance in Football Players: A Cross-Sectional Study. 38
30427242 2019
18
The stiffness response of type IIa fibres after eccentric exercise-induced muscle damage is dependent on ACTN3 r577X polymorphism. 38
30360698 2019
19
Effects of Adding Vertical or Horizontal Force-Vector Exercises to In-season General Strength Training on Jumping and Sprinting Performance of Youth Football Players. 38
31145387 2019
20
Dribbling speed along curved paths predicts attacking performance in match-realistic one vs. one soccer games. 38
30470166 2019
21
The Effect of Ballistic Exercise as Pre-Activation for 100 m Sprints. 38
31137756 2019
22
Caffeine and Sprint Cycling Performance: Effects of Torque Factor and Sprint Duration. 38
30204516 2019
23
Can we use GPS for assessing sprinting performance in rugby sevens? A concurrent validity and between-device reliability study. 38
30899136 2019
24
Effects of Playing Surface on Physical, Physiological and Perceptual Responses to a Repeated Sprint Ability Test: Natural Grass Versus Artificial Turf. 38
30860407 2019
25
Acute Kinematic Effects of Sprinting With Motorized Assistance. 38
30946271 2019
26
Leg amputation side determines performance in curve sprinting: a case study on a Paralympic medalist. 38
29132264 2019
27
Ecological and Construct Validity of a Repeated Sprint Test in Male Youth Soccer Players. 38
30694965 2019
28
Dissociation between changes in sprinting performance and Nordic hamstring strength in professional male football players. 38
30870442 2019
29
Influence of shoe sole bending stiffness on sprinting performance. 38
29083127 2018
30
The effect of block and traditional periodization training models on jump and sprint performance in collegiate basketball players. 38
30765923 2018
31
Individual Step Characteristics During Sprinting in Unilateral Transtibial Amputees. 38
29989464 2018
32
Correlation of dynamic strength in the standing calf raise with sprinting performance in consecutive sections up to 30 meters. 38
29963928 2018
33
Effects of 12-Week Resistance Training on Sprint and Jump Performances in Competitive Adolescent Rugby Union Players. 38
28723812 2018
34
Relationship Between Maximal Dynamic Force in the Deep Back Squat and Sprinting Performance in Consecutive Segments Up to 30 m. 38
30273292 2018
35
Kinematics of the thorax and pelvis during accelerated sprinting. 38
28462572 2018
36
Effects of work-matched moderate- and high-intensity warm-up on power output during 2-min supramaximal cycling. 38
30449939 2018
37
Age-Related Differences in Spatiotemporal Variables and Ground Reaction Forces During Sprinting in Boys. 38
29478372 2018
38
A pilot study on the importance of forefoot bone length in male 400-m sprinters: is there a key morphological factor for superior long sprint performance? 38
30103812 2018
39
Step-to-step spatiotemporal variables and ground reaction forces of intra-individual fastest sprinting in a single session. 38
28988513 2018
40
Effect of cluster set warm-up configurations on sprint performance in collegiate male soccer players. 38
29365286 2018
41
Examination of Self-Myofascial Release vs. Instrument-Assisted Soft-Tissue Mobilization Techniques on Vertical and Horizontal Power in Recreational Athletes. 38
29742744 2018
42
Association of Sprint Performance With Ground Reaction Forces During Acceleration and Maximal Speed Phases in a Single Sprint. 38
28952906 2018
43
Neuromuscular Effects to 6 Weeks of Loaded Countermovement Jumping With Traditional and Daily Undulating Periodization. 38
29466269 2018
44
Validity of Critical Velocity Concept for Weighted Sprinting Performance. 38
30147825 2018
45
Training at maximal power in resisted sprinting: Optimal load determination methodology and pilot results in team sport athletes. 38
29641589 2018
46
Differences in sprinting performance and kinematics between preadolescent boys who are fore/mid and rear foot strikers. 38
30335813 2018
47
Predicting the defensive performance of individual players in one vs. one soccer games. 38
30596724 2018
48
In-season eccentric-overload training in elite soccer players: Effects on body composition, strength and sprint performance. 38
30325935 2018
49
Development of maximal speed sprinting performance with changes in vertical, leg and joint stiffness. 38
27406013 2017
50
Estimation and validation of spatio-temporal parameters for sprint running using a radio-based tracking system. 38
29106897 2017

Variations for Actn3 Deficiency

ClinVar genetic disease variations for Actn3 Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACTN3 NM_001104.4(ACTN3): c.1729C> T (p.Arg577Ter) single nucleotide variant Conflicting interpretations of pathogenicity, Affects 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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