DNAJB2 gene related symptoms and diseases
All the information presented here about the DNAJB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DNAJB2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Peripheral axonal neuropathy | Very Common - Between 80% and 100% cases |
| Sensory impairment | Very Common - Between 80% and 100% cases |
| Peripheral neuropathy | Very Common - Between 80% and 100% cases |
| Gait disturbance | Very Common - Between 80% and 100% cases |
| Areflexia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DNAJB2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Foot dorsiflexor weakness
- Distal sensory impairment
Not very common - Between 30% and 50% cases
- Lower limb muscle weakness
- Paresthesia
- Sensory neuropathy
- Dysphonia
- Ataxia
- Distal muscle weakness
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DNAJB2 gene
Here you will find a list of rare diseases related to the DNAJB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2
Alternate names
DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t, charcot-marie-tooth disease, axonal, autosomal recessive, type 2t, dnajb2-related cmt2
Description
Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).
Most common symptoms of DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2
- Ataxia
- Cognitive impairment
- Peripheral neuropathy
- Gait disturbance
- Cerebral atrophy
More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2
YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY
Alternate names
YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn, autosomal recessive distal spinal muscular atrophy type 5, dsma5
Description
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
Most common symptoms of YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY
- Generalized hypotonia
- Muscle weakness
- Peripheral neuropathy
- Skeletal muscle atrophy
- Gait disturbance
More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY
Search interest in DNAJB2
Potential gene panels for DNAJB2 gene
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
United States.
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 panel United States.
Charcot-Marie-Tooth Syndrome Panel
United States.
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 panel United States.
Charcot Marie Tooth Panel Panel
Argentina.
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 panel Argentina.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
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 panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
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 panel United States.
Neuropathy distal motor 5, AR (sequence analysis of DNAJB2 ene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DNAJB2 gene.
More info about this panel Portugal.
Spinal muscular atrophy (NGS panel for 21 genes) Panel
Portugal.
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 panel Portugal.
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel
United States.
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 panel United States.
Distal hereditary motor neuropathy and related disorders NGS panel Panel
United States.
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 panel United States.
Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel
United States.
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 panel United States.
Neuropathy Panel
Germany.
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 panel Germany.
Neuropathy distal motor, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DNAJB2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 panel Germany.
Spinal Muscular Atrophy Panel Panel
Germany.
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 panel Germany.
Spinal Muscular Atrophy (SMA) Panel Panel
Germany.
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 panel Germany.
Charcot-Marie-Tooth Disease Panel
Estonia.
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 panel Estonia.
Invitae Comprehensive Neuropathies Panel Panel
United States.
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 panel United States.
Invitae Hereditary Motor Neuropathy Panel Panel
United States.
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 panel United States.
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
United States.
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 panel United States.
Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel
United States.
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 panel United States.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
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 panel United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Charcot Marie Tooth Disease Extended NGS Panel Panel
United States.
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 panel United States.
DNAJB2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNAJB2 gene.
More info about this panel United States.
Spinal Muscular Atrophy Panel Panel
Finland.
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 panel Finland.
ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
Spain.
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 panel Spain.
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
Spain.
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 panel Spain.
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
Spain.
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
More info about this panel Spain.
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