TIA1 gene related symptoms and diseases
All the information presented here about the TIA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TIA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myopathy | Very Common - Between 80% and 100% cases |
| Clumsiness | Uncommon - Between 30% and 50% cases |
| Rimmed vacuoles | Uncommon - Between 30% and 50% cases |
| Mildly elevated creatine phosphokinase | Uncommon - Between 30% and 50% cases |
| Steppage gait | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TIA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Myotonia
- Limb-girdle muscular dystrophy
- Fasciculations
- Frequent falls
- Sensory impairment
- Muscle weakness
- Small hand
- Distal amyotrophy
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TIA1 gene
Here you will find a list of rare diseases related to the TIA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DISTAL MYOPATHY, WELANDER TYPE
Alternate names
DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm
Description
Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
Most common symptoms of DISTAL MYOPATHY, WELANDER TYPE
- Myopathy
More info about DISTAL MYOPATHY, WELANDER TYPE
SOURCES: ORPHANET
LAING EARLY-ONSET DISTAL MYOPATHY
Alternate names
LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1, mpd1, gowers disease, myopathy, distal, swedish, muscular dystrophy, distal, late-onset, autosomal dominant
Description
Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.
Most common symptoms of LAING EARLY-ONSET DISTAL MYOPATHY
- Muscle weakness
- Myopathy
- Proximal muscle weakness
- Distal muscle weakness
- Muscular dystrophy
More info about LAING EARLY-ONSET DISTAL MYOPATHY
Search interest in TIA1
Potential gene panels for TIA1 gene
Distal Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5
More info about this panel United States.
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.
Welander Distal Myopathy (sequence analysis of TIA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TIA1 gene.
More info about this panel Portugal.
Welander Distal Myopathy via TIA1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TIA1 gene.
More info about this panel United States.
Distal Hereditary Myopathy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Distal Hereditary Myopathy Sequencing Panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 KLHL9
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.
Welander distal myopathy Panel
Finland.
By Neuromuscular Research Unit, Neurogenetics University of Tampere
This panel specifically test the TIA1 gene.
More info about this panel Finland.
Distal Myopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Distal Myopathy NGS panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel United States.
Distal Myopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Distal Myopathy Comprehensive panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel United States.
Distal Myopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Distal Myopathy Deletion / Duplication panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel United States.
Muscle Disease with Distal Myopathy Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2
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.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Single gene testing TIA1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the TIA1 gene.
More info about this panel Germany.
Congenital Myopathy and Distal Myopathy NGS panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panel Estonia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Distal Myopathy Panel Panel
United States.
By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB
More info about this panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel United States.
DISTAL MYOPATHY, TYPE WELANDER Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TIA1 gene.
More info about this panel Spain.
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