ALG14 gene related symptoms and diseases
All the information presented here about the ALG14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALG14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Flexion contracture | Very Common - Between 80% and 100% cases |
| Difficulty walking | Very Common - Between 80% and 100% cases |
| Proximal muscle weakness | Very Common - Between 80% and 100% cases |
| Frequent falls | Very Common - Between 80% and 100% cases |
| Fatigable weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALG14 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Increased jitter at single fibre EMG
- Ptosis
Not very common - Between 30% and 50% cases
- Muscle weakness
- Difficulty climbing stairs
- Ragged-red muscle fibers
- Poor head control
- Easy fatigability
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALG14 gene
Here you will find a list of rare diseases related to the ALG14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15 Is also known as myasthenic syndrome, congenital, without tubular aggregates, cmswta
Description
Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15
- Muscle weakness
- Ptosis
- Flexion contracture
- Difficulty walking
- Proximal muscle weakness
More info about MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15
SOURCES: OMIM
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT
Most common symptoms of CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT
- Generalized hypotonia
- Scoliosis
- Ptosis
- Flexion contracture
- High palate
More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT
SOURCES: ORPHANET
Search interest in ALG14
Potential gene panels for ALG14 gene
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Congenital Myasthenic Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
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.
Congenital myasthenic syndrome ALG14-related Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ALG14 gene.
More info about this panel Germany.
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.
Congenital Myasthenic Syndrome (CMS) Panel
Germany.
By MGZ Medical Genetics Center Congenital Myasthenic Syndrome (CMS) that also includes the following genes: SNAP25 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 ALG14
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Disease with Ptosis / External Ophthalmoplegia Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE
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.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel Germany.
Congenital Disorders of Glycosylation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
ALG14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALG14 gene.
More info about this panel United States.
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1
More info about this panel Spain.
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