IGHMBP2 gene related symptoms and diseases
All the information presented here about the IGHMBP2 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 IGHMBP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Hyporeflexia | Very Common - Between 80% and 100% cases |
| Diaphragmatic paralysis | Very Common - Between 80% and 100% cases |
| Peripheral axonal neuropathy | Very Common - Between 80% and 100% cases |
| Abnormality of the foot | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IGHMBP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Distal muscle weakness
- Paralysis
- Respiratory insufficiency
- Peripheral neuropathy
- Muscle weakness
- Motor delay
- Axonal degeneration
- Talipes equinovarus
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IGHMBP2 gene
Here you will find a list of rare diseases related to the IGHMBP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHARCOT-MARIE-TOOTH DISEASE TYPE 2S
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 2S Is also known as charcot-marie-tooth neuropathy, type 2s, cmt2s, charcot-marie-tooth disease, axonal, autosomal recessive, type 2s
Description
Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 2S
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Motor delay
- Peripheral neuropathy
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1
Alternate names
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6, hmn6, neuronopathy, distal hereditary motor, type vi, spinal muscular atrophy, diaphragmatic, autosomal recessive distal spinal muscular atrophy type 1, autosomal recessive spinal muscular atrophy with respiratory distress, dsma1, distal-hmn type 6, diaphr
Description
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Most common symptoms of SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1
- Generalized hypotonia
- Growth delay
- Failure to thrive
- Muscle weakness
- Muscular hypotonia
Search interest in IGHMBP2
Potential gene panels for IGHMBP2 gene
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel
By Athena Diagnostics Inc Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation that also includes the following genes: UBA1 VRK1 BICD2 TRPV4 DYNC1H1 HSPB8 GARS HSPB1 HSPB3 IGHMBP2
More info about this panelCharcot-Marie-Tooth Hereditary Neuropathy Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
More info about this panelNeuromuscular Disorders Panel Panel
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 panelCharcot-Marie-Tooth Syndrome Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelComprehensive Neuromuscular Panel Panel
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 panelCharcot Marie Tooth Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelIGHMBP2 Gene Sequencing Panel
By GeneDx
This panel specifically test the IGHMBP2 gene.
More info about this panelSpinal Muscular Atrophy with Respiratory Distress Panel
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the IGHMBP2 gene.
More info about this panelIGHMBP2. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IGHMBP2 gene.
More info about this panelIGHMBP2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IGHMBP2 gene.
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panelSpinal muscular atrophy with respiratory distress (sequence analysis of IGHMBP2 gene) Panel
By CGC Genetics
This panel specifically test the IGHMBP2 gene.
More info about this panelNeuronopathy, distal hereditary motor (deletion/duplication analysis of IGHMBP2 gene) Panel
By CGC Genetics
This panel specifically test the IGHMBP2 gene.
More info about this panelCharcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelSpinal muscular atrophy (NGS panel for 21 genes) Panel
By CGC Genetics Spinal muscular atrophy (NGS panel for 21 genes) that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 TRPV4
More info about this panelSMA with Respiratory Distress ( SMARD1) Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the IGHMBP2 gene.
More info about this panelCharcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4
More info about this panelDistal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SYT2 SLC5A7 BSCL2 BICD2 TRPV4 AARS LAS1L REEP1 DCTN1 FBXO38
More info about this panelSpinal Muscular Atrophy with Respiratory Distress Type 1 via IGHMBP2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the IGHMBP2 gene.
More info about this panelComprehensive Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panelDistal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1
More info about this panelDistal hereditary motor neuropathy and related disorders NGS panel Panel
By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders NGS panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1
More info about this panelDistal hereditary motor neuropathy and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Comprehensive panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1
More info about this panelSpinal muscular atrophy with respiratory distress 1 Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the IGHMBP2 gene.
More info about this panelNeuropathy Panel
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panelSpinal Muscular Atrophy with Respiratory Distress 1 Panel
By MGZ Medical Genetics Center
This panel specifically test the IGHMBP2 gene.
More info about this panelNewborn: “Floppy Infant “ Panel
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 panelSpinal Muscular Atrophy, Proximal Motor Neuropathy Panel
By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2
More info about this panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
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 panelNeuronopathy distal hereditary motor type VI Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IGHMBP2 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelNeuronopathy, type VI Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the IGHMBP2 gene.
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelSpinal Muscular Atrophy Panel Panel
By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panelSpinal Muscular Atrophy (SMA) Panel Panel
By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panelCharcot-Marie-Tooth Disease Panel
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panelInvitae Comprehensive Neuropathies Panel Panel
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panelInvitae Hereditary Motor Neuropathy Panel Panel
By Invitae Invitae Hereditary Motor Neuropathy Panel that also includes the following genes: SMN1 SMN2 UBA1 VAPB SLC5A7 CHCHD10 BSCL2 BICD2 TRPV4 REEP1
More info about this panelInvitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2
More info about this panelInvitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel that also includes the following genes: SPG11 PRX GDAP1 TRIM2 FIG4 MFN2 FGD4 SBF2 LRSAM1 MED25
More info about this panelExpanded Neuromuscular Disorders: Sequencing Panel Panel
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 panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelExpanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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 panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelDistal Hereditary Motor Neuropathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Distal Hereditary Motor Neuropathy NGS Panel that also includes the following genes: SLC5A7 BSCL2 FIG4 TRPV4 REEP1 DCTN1 MEGF10 DNMT1 HSPB8 GAN
More info about this panelCharcot Marie Tooth Disease Extended NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1
More info about this panelIGHMBP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IGHMBP2 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panelSpinal Muscular Atrophy Panel Panel
By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2
More info about this panelSPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 Panel
By Bioarray
This panel specifically test the IGHMBP2 gene.
More info about this panelSPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the IGHMBP2 gene.
More info about this panelATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2
More info about this panelNEURONOPATHY, DISTAL HEREDITARY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEURONOPATHY, DISTAL HEREDITARY NGS PANEL that also includes the following genes: SLC5A7 BSCL2 MFN2 TRPV4 REEP1 DCTN1 FBXO38 HSPB8 GARS HINT1
More info about this panelNeuronopathy distal hereditary motor type 6 Panel
By LifeLabs Genetics
This panel specifically test the IGHMBP2 gene.
More info about this panelSpinal Muscular Atrophy with Respiratory Failure, Sequencing IGHMBP2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the IGHMBP2 gene.
More info about this panelSpinal Muscular Atrophy with Respiratory Failure, Deletions-Duplications (MLPA) IGHMBP2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the IGHMBP2 gene.
More info about this panelMotor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
More info about this panelMuscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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 panelCharcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GDAP1 KIF1B MFN2 TRPV4 AARS LRSAM1 MED25 DYNC1H1 DNM2 HSPB8
More info about this panelSpinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
By Reference Laboratory Genetics Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SCO2 SMN1 SMN2 UBA1 VAPB VRK1 SLC5A7 BSCL2 TRPV4 REEP1
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