TOR1AIP1 gene related symptoms and diseases
All the information presented here about the TOR1AIP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TOR1AIP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Lower limb muscle weakness | Very Common - Between 80% and 100% cases |
| Ankle contracture | Very Common - Between 80% and 100% cases |
| Rimmed vacuoles | Very Common - Between 80% and 100% cases |
| Spinal rigidity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TOR1AIP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Elbow flexion contracture
- Progressive muscle weakness
- Inability to walk
- Limb muscle weakness
- Flexion contracture
- Muscular dystrophy
- Distal muscle weakness
- Proximal muscle weakness
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TOR1AIP1 gene
Here you will find a list of rare diseases related to the TOR1AIP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Y
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Y Is also known as autosomal recessive muscular dystrophy due to lap1b deficiency, lgmd2y, autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystr
Description
Autosomal recessive limb-girdle muscular dystrophy type 2Y is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Y
- Muscle weakness
- Flexion contracture
- Myopathy
- Elevated serum creatine phosphokinase
- Rigidity
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Y
Search interest in TOR1AIP1
Potential gene panels for TOR1AIP1 gene
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panel United States.
Limb Girdle Muscular Dystrophy Type 2Y via TOR1AIP1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TOR1AIP1 gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Limb girdle muscular dystrophy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb girdle muscular dystrophy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb girdle muscular dystrophy NGS panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Muscle Disease with Contractures and/or Rigid Spine Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Skeletal myopathy Panel Panel
Spain.
By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
TOR1AIP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TOR1AIP1 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
LGMD and Congenital Muscular Dystrophy Panel Panel
Finland.
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Finland.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Dilated Cardiomyopathy (DCM) Panel Panel
Finland.
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Finland.
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6
More info about this panel Spain.
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