LMNB1 gene related symptoms and diseases
All the information presented here about the LMNB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LMNB1 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Bowel incontinence | Very Common - Between 80% and 100% cases |
Hemiparesis | Very Common - Between 80% and 100% cases |
Hypohidrosis | Very Common - Between 80% and 100% cases |
Limb ataxia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LMNB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Leukodystrophy
- Abnormal autonomic nervous system physiology
- Paraparesis
- Spastic paraparesis
- Spastic tetraparesis
- Leukoencephalopathy
- Abnormality of the urinary system
- Apathy
And 56 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LMNB1 gene
Here you will find a list of rare diseases related to the LMNB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY
Alternate names
ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld, adult-onset autosomal dominant demyelinating leukodystrophy, pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly
Description
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.
Most common symptoms of ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY
- Global developmental delay
- Hearing impairment
- Ataxia
- Nystagmus
- Spasticity
More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY
Search interest in LMNB1
Potential gene panels for LMNB1 gene
Ataxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelLeukodystrophy, Adult-Onset, Autosomal Dominant Panel
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy demyelinating adult-onset, AD (sequence analysis of LMNB1 gene) Panel
By CGC Genetics
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy (deletions/duplications analysis of LMNB1, NOTCH3 and PLP1 genes) Panel
By CGC Genetics
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy (deletions/duplications analysis of LMNB1, NOTCH3 and PLP1 genes) Panel
By CGC Genetics
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelNeurogenetic Disorders - panels Panel
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 paneladult-onset autosomal dominant Leukodystrophy Panel
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy demyelinating adult-onset autosomal dominant Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the LMNB1 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 panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelSingle gene testing LMNB1 Panel
By CeGaT GmbH
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy / Leukoencephalopathy Panel Panel
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panelLMNB Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Panel
By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelLeukodystrophy, adult-onset, autosomal dominant: LMNB1 gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LMNB1 gene.
More info about this panelLeukodistrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
More info about this panelLMNB1 - Del/Dup analysis Panel
By Genome Diagnostics VU University Medical Center
This panel specifically test the LMNB1 gene.
More info about this panelLeukoencephalopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
More info about this panelLMNB1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LMNB1 gene.
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelLeukodystrophy and Leukoencephalopathy Panel Panel
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelLEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the LMNB1 gene.
More info about this panelAutosomal Dominant Adult-Onset Demyelinating Leukodystrophy , Deletions-Duplications (MLPA) LMNB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LMNB1 gene.
More info about this panelLeukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
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