GLE1 gene related symptoms and diseases
All the information presented here about the GLE1 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 GLE1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Skeletal muscle atrophy | Very Common - Between 80% and 100% cases |
| Congenital contracture | Common - Between 50% and 80% cases |
| Flexion contracture | Common - Between 50% and 80% cases |
| Akinesia | Common - Between 50% and 80% cases |
| Arthrogryposis multiplex congenita | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GLE1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Fetal akinesia sequence
- Short neck
- Edema
- Paucity of anterior horn motor neurons
Not very common - Between 30% and 50% cases
- Micrognathia
- Hypertelorism
- Abnormal form of the vertebral bodies
- Polyhydramnios
And 71 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GLE1 gene
Here you will find a list of rare diseases related to the GLE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AMYOTROPHIC LATERAL SCLEROSIS
Alternate names
AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS
- Microcephaly
- Muscle weakness
- Pain
- Cataract
- Spasticity
More info about AMYOTROPHIC LATERAL SCLEROSIS
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1
Alternate names
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease, multiple contracture syndrome, finnish type, lccs, lccs1
Description
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1
- Short stature
- Hypertelorism
- Micrognathia
- Flexion contracture
- Skeletal muscle atrophy
More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1
LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME
Alternate names
LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME Is also known as vuopala disease, laahd
Most common symptoms of LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME
- Growth delay
- Low-set ears
- Flexion contracture
- Intrauterine growth retardation
- Skeletal muscle atrophy
More info about LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME
Search interest in GLE1
Potential gene panels for GLE1 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.
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
GLE1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GLE1 gene.
More info about this panel Spain.
Lethal congenital contracture syndrome (LCCS1) Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the GLE1 gene.
More info about this panel Poland.
Lethal arthrogryposis with anterior horn cell disease (LAAHD) Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the GLE1 gene.
More info about this panel Poland.
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG CNTN1 COLQ DOK7 KLHL40 GLE1 MUSK
More info about this panel United States.
GLE1-Related Disorders via GLE1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GLE1 gene.
More info about this panel United States.
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
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 contracture syndrome extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders NGS Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLE1 gene.
More info about this panel Germany.
Lethal congenital contracture syndrome 1 Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the GLE1 gene.
More info about this panel Germany.
Amyotrophic Lateral Sclerosis (ALS) Panel Panel
Germany.
By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2
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.
Single gene testing GLE1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GLE1 gene.
More info about this panel Germany.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
GLE1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLE1 gene.
More info about this panel United States.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
Lethal congenital contracture syndrome 1 Panel
Spain.
By Bioarray
This panel specifically test the GLE1 gene.
More info about this panel Spain.
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GLE1 gene.
More info about this panel Spain.
ARTHROGRYPOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panel Spain.
Lethal Congenital Contractures Syndrome, Sequencing GLE1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLE1 gene.
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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