CAPN3 gene related symptoms and diseases

All the information presented here about the CAPN3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to CAPN3 gene

Symptoms // Phenotype	% Cases
Muscle weakness	Very Common - Between 80% and 100% cases
Difficulty walking	Very Common - Between 80% and 100% cases
Limb-girdle muscular dystrophy	Very Common - Between 80% and 100% cases
Scapular winging	Very Common - Between 80% and 100% cases
Muscular dystrophy	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CAPN3 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Proximal muscle weakness
Calf muscle hypertrophy
Flexion contracture
Elevated serum creatine phosphokinase
Myopathy
Not very common - Between 30% and 50% cases
Wrist flexion contracture
Myofibrillar myopathy
Myositis

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CAPN3 gene

Here you will find a list of rare diseases related to the CAPN3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

Alternate names

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A Is also known as lgmd2a, muscular dystrophy, limb-girdle, type 1i, lgmd1i, limb-girdle muscular dystrophy due to calpain deficiency, primary calpainopathy

Description

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

Muscle weakness
Pain
Flexion contracture
Skeletal muscle atrophy
Gait disturbance

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

SOURCES: OMIM ORPHANET

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Alternate names

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 Is also known as lgmd2, muscular dystrophy, limb-girdle, type 2a, lgmd2a, muscular dystrophy, pelvofemoral, calpainopathy, leyden-moebius muscular dystrophy, muscular dystrophy, limb-girdle, type 2

Description

Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular DystrophyAutosomal recessive LGMD is genetically heterogeneous.LGMDR2 (OMIM ), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF ) on 2p13. LGMDR3 (OMIM ), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA ) on 17q21. LGMDR4 (OMIM ), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB ) on 4q12. LGMDR5 (OMIM ), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG ) on 13q12. LGMDR6 (OMIM ), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD ) on 5q33. LGMDR7 (OMIM ), previously symbolized LGMD2G, is caused by mutation in the TCAP gene (OMIM ) on 17q12. LGMDR8 (OMIM ), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene (OMIM ) on 9q33. LGMDR9 (OMIM ), previously symbolized LGMD2I, is caused by mutation in the FKRP gene (OMIM ) on 19q13. LGMDR10 (OMIM ), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN ) on 2q31. LGMDR11 (OMIM ), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene (OMIM ) on 9q34. LGMDR12 (OMIM ), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene (OMIM ) on 11p14. LGMDR13 (OMIM ), previously symbolized LGMD2M, is caused by mutation in the FKTN gene (OMIM ) on 9q31. LGMDR14 (OMIM ), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene (OMIM ) on 14q24. LGMDR15 (OMIM ), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene (OMIM ) on 1p34. LGMDR16 (OMIM ), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene (OMIM ) on 3p21. LGMDR17 (OMIM ), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene (OMIM ) on 8q24. LGMDR18 (OMIM ), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene (OMIM ) on 4q35. LGMDR19 (OMIM ), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene (OMIM ) on 3p21. LGMDR20 (OMIM ), previously symbolized LGMD2U, is caused by mutation in the ISPD gene (OMIM ) on 7p21. LGMDR21 (OMIM ), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene (OMIM ) on 3q13.Some forms of autosomal recessive LGMD were reclassified by Straub et al. (2018). LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1 ). For forms previously designated LGMD2W, LGMD2X, and LGMD2Y, see {616827}, {616812}, and {617072}, respectively.For a discussion of autosomal dominant LGMD, see LGMDD1 (OMIM ).

Most common symptoms of MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Muscle weakness
Flexion contracture
Myopathy
Elevated serum creatine phosphokinase
Difficulty walking

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

SOURCES: OMIM

Search interest in CAPN3

Potential gene panels for CAPN3 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

CAPN3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CAPN3 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to CAPN3 gene

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Alternate names

Description

Most common symptoms of MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Search interest in CAPN3

Potential gene panels for CAPN3 gene

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

CAPN3 Evaluation Panel

CAPN3 Duplication/Deletion Test Panel

Limb Girdle Muscular Dystrophy Advanced Evaluation Panel

Muscular Dystrophy Advanced Evaluation Panel

Neuromuscular Disorders Panel Panel

Comprehensive Neuromuscular Panel Panel

Limb-Girdle Muscular Dystrophy Panel

Neuromuscular Disorders Sequencing Panel Panel

Limb-Girdle Muscular Dystrophy Sequencing Panel Panel

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel

CAPN3. Complete sequencing Panel

Limb-girdle muscular dystrophies (NGS panel for 26 genes) Panel

Limb-girdle muscular dystrophy 2A (LGMD2A, sequence analysis of CAPN3 gene) Panel

Limb-girdle muscular dystrophy type 2A (LGMD2A, deletion/duplication analysis on CAPN3 gene) Panel

Limb-girdle muscular dystrophy type 2A (LGMD2A, deletion/duplication analysis on CAPN3 gene) Panel

CALPAINOPATHY Panel

Calpain (CAPN3) Sequencing Panel

Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel

Limb Girdle Muscular Dystrophy Type 2A via CAPN3 Gene Sequencing with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

Limb girdle muscular dystrophy Comprehensive panel Panel

Limb girdle muscular dystrophy Deletion / Duplication panel Panel

Limb girdle muscular dystrophy NGS panel Panel

Muscular Dystrophy: Limb Girdle - autosomal recessive Panel

CAPN3 Panel

Muscle Disease with Contractures and/or Rigid Spine Panel

Muscle Disease with Distal Myopathy Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Muscle Disease with FSHD Phenocopies Panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Limb Girdle Muscular Dystrophy Autosomal Recessive Panel Panel

Limb-girdle muscular dystrophy, autosomal recessive type 2A Panel

Muscular dystrophy, limb-girdle, type 2A Panel

Limb-girdle muscular dystrophy panel Panel

AllNeuro panel Panel

Limb-Girdle Muscular Dystrophies Panel Panel

Single gene testing CAPN3 Panel

Limb-Girdle Muscular Dystrophy type 2 (LGMD2) Panel

LGMD2A, CAPN3 Panel

Limb girdle muscular dystrophy 2A Panel

Limb girdle muscular dystrophy-Panel Panel

Limb-Girdle Muscular Dystrophy Panel

Limb-girdle muscular dystrophy type 2A (LGMD2A), CAPN3 sequencing Panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Skeletal Myopathy Panel Panel

Cardiovascular Diseases_General Panel Panel

Skeletal myopathy Panel Panel

Arrhythmia General Panel Panel

Muscular dystrophy, limb-girdle 2A Panel

CAPN3 Gene Sequencing Panel

qCarrier Plus Panel

Muscular dystrophy, limb-girdle 2A Panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

Invitae Comprehensive Muscular Dystrophy Panel Panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

Invitae Limb-Girdle Muscular Dystrophy Panel Panel

Limb-girdle muscular dystrophy type 2A (LGMD 2A): CAPN3 gene sequence analysis Panel

LIMB-GIRDLE MUSCULAR DYSTROPHY Panel

LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. Panel

Limb-Girdle Muscular Dystrophy Type 2A: CAPN3 Full Gene Sequencing Panel

Limb-Girdle Muscular Dystrophy Type 2A: CAPN3 Gene Deletion/Duplication Panel

Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel