MCID: ACT240
MIFTS: 23

Actn3 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Actn3 Deficiency

MalaCards integrated aliases for Actn3 Deficiency:

Name: Actn3 Deficiency 56 29 6 71
Sprinting Performance 56 29 6
Alpha-Actinin-3 Deficiency 56 39

Classifications:



External Ids:

OMIM 56 617749
UMLS 71 C3888204

Summaries for Actn3 Deficiency

OMIM : 56 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). Affiliated tissues include skeletal muscle, testes 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hutterite cerebroosteonephrodysplasia syndrome 10.7
2 hypoxia 10.3
3 developmental coordination disorder 10.1
4 developmental dyspraxia 10.1
5 spinal cord injury 10.1
6 hand skill, relative 9.9
7 osteoporosis-pseudoglioma syndrome 9.9
8 arts syndrome 9.9
9 helix syndrome 9.9
10 metabolic acidosis 9.9
11 quadriplegia 9.9
12 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:

40
Skeletal Muscle, Testes, Bone, Skin

Publications for Actn3 Deficiency

Articles related to Actn3 Deficiency:

(show top 50) (show all 198)
# Title Authors PMID Year
1
The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. 6 56
18043716 2008
2
No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. 56 6
17627799 2007
3
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. 6 56
17828264 2007
4
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. 6 56
17033684 2007
5
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. 56 6
15886711 2005
6
ACTN3 genotype is associated with human elite athletic performance. 56 6
12879365 2003
7
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. 56 6
10192379 1999
8
Performance constraints in decathletes. 56
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
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
12
The effects of lower limb wearable resistance on sprint running performance: A systematic review. 61
31177935 2020
13
CYP1A2 genotype and acute effects of caffeine on resistance exercise, jumping, and sprinting performance. 61
32295624 2020
14
Joint moments and power in the acceleration phase of bend sprinting. 61
31987576 2020
15
Effects of forearm wearable resistance on acceleration mechanics in collegiate track sprinters. 61
31973687 2020
16
Inertial measurement unit-based hip flexion test as an indicator of sprint performance. 61
31623521 2020
17
Examination of Self-Myofascial Release vs. Instrument-Assisted Soft-Tissue Mobilization Techniques on Vertical and Horizontal Power in Recreational Athletes. 61
29742744 2020
18
A Pilot Study to Examine the Impact of Beta-Alanine Supplementation on Anaerobic Exercise Performance in Collegiate Rugby Athletes. 61
31703346 2019
19
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
20
Effects of Playing Surface on Physical, Physiological, and Perceptual Responses to a Repeated-Sprint Ability Test: Natural Grass Versus Artificial Turf. 61
30860407 2019
21
Bend sprinting performance: new insights into the effect of running lane. 61
29562837 2019
22
The influence of biological maturity on motor performance among habitually barefoot versus habitually shod adolescents. 61
30422752 2019
23
Age-related differences in kinematics and kinetics of sprinting in young female. 61
30697820 2019
24
Sprint running kinematics and kinetics in pre-peak-height-velocity male children on a non-motorised treadmill: reliability and normative data. 61
29869927 2019
25
The Effect of Tissue Flossing on Ankle Range of Motion, Jump, and Sprint Performance in Elite Rugby Union Athletes. 61
30676229 2019
26
Dribbling speed along curved paths predicts attacking performance in match-realistic one vs. one soccer games. 61
30470166 2019
27
The Effect of Ballistic Exercise as Pre-Activation for 100 m Sprints. 61
31137756 2019
28
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
29
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
30
The stiffness response of type IIa fibres after eccentric exercise-induced muscle damage is dependent on ACTN3 r577X polymorphism. 61
30360698 2019
31
Caffeine and Sprint Cycling Performance: Effects of Torque Factor and Sprint Duration. 61
30204516 2019
32
Can we use GPS for assessing sprinting performance in rugby sevens? A concurrent validity and between-device reliability study. 61
30899136 2019
33
Acute Kinematic Effects of Sprinting With Motorized Assistance. 61
30946271 2019
34
Leg amputation side determines performance in curve sprinting: a case study on a Paralympic medalist. 61
29132264 2019
35
Ecological and Construct Validity of a Repeated Sprint Test in Male Youth Soccer Players. 61
30694965 2019
36
Dissociation between changes in sprinting performance and Nordic hamstring strength in professional male football players. 61
30870442 2019
37
Post-activation potentiation effect of eccentric overload and traditional weightlifting exercise on jumping and sprinting performance in male athletes. 61
31513671 2019
38
Influence of shoe sole bending stiffness on sprinting performance. 61
29083127 2018
39
Individual Step Characteristics During Sprinting in Unilateral Transtibial Amputees. 61
29989464 2018
40
The effect of block and traditional periodization training models on jump and sprint performance in collegiate basketball players. 61
30765923 2018
41
Effects of 12-Week Resistance Training on Sprint and Jump Performances in Competitive Adolescent Rugby Union Players. 61
28723812 2018
42
Correlation of dynamic strength in the standing calf raise with sprinting performance in consecutive sections up to 30 meters. 61
29963928 2018
43
Relationship Between Maximal Dynamic Force in the Deep Back Squat and Sprinting Performance in Consecutive Segments Up to 30 m. 61
30273292 2018
44
Kinematics of the thorax and pelvis during accelerated sprinting. 61
28462572 2018
45
Effects of work-matched moderate- and high-intensity warm-up on power output during 2-min supramaximal cycling. 61
30449939 2018
46
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? 61
30103812 2018
47
Age-Related Differences in Spatiotemporal Variables and Ground Reaction Forces During Sprinting in Boys. 61
29478372 2018
48
Step-to-step spatiotemporal variables and ground reaction forces of intra-individual fastest sprinting in a single session. 61
28988513 2018
49
Effect of cluster set warm-up configurations on sprint performance in collegiate male soccer players. 61
29365286 2018
50
Association of Sprint Performance With Ground Reaction Forces During Acceleration and Maximal Speed Phases in a Single Sprint. 61
28952906 2018

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 Conflicting interpretations of pathogenicity, Affects 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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