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.

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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


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

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

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

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

Congenital myasthenic syndrome ALG14-related Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ALG14 gene.

More info about this panel

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

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

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

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

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

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

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

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

ALG14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALG14 gene.

More info about this panel

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


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