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
United States.
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 panel United States.
Leukodystrophy, Adult-Onset, Autosomal Dominant Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the LMNB1 gene.
More info about this panel United States.
Leukodystrophy demyelinating adult-onset, AD (sequence analysis of LMNB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LMNB1 gene.
More info about this panel Portugal.
Leukodystrophy (deletions/duplications analysis of LMNB1, NOTCH3 and PLP1 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the LMNB1 gene.
More info about this panel Portugal.
Leukodystrophy (deletions/duplications analysis of LMNB1, NOTCH3 and PLP1 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the LMNB1 gene.
More info about this panel Portugal.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
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 Germany.
adult-onset autosomal dominant Leukodystrophy Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the LMNB1 gene.
More info about this panel Germany.
Leukodystrophy demyelinating adult-onset autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LMNB1 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.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
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 panel Germany.
Single gene testing LMNB1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the LMNB1 gene.
More info about this panel Germany.
Leukodystrophy / Leukoencephalopathy Panel Panel
Germany.
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 panel Germany.
LMNB Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the LMNB1 gene.
More info about this panel Germany.
Leukodystrophy and Leukoencephalopathy Panel
Estonia.
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 panel Estonia.
qChip Panel
Spain.
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 panel Spain.
Leukodystrophy, adult-onset, autosomal dominant: LMNB1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LMNB1 gene.
More info about this panel Spain.
Leukodistrophy Panel
Spain.
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 panel Spain.
LMNB1 - Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the LMNB1 gene.
More info about this panel Netherlands.
Leukoencephalopathy NGS Panel Panel
United States.
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 panel United States.
LMNB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LMNB1 gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
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 panel Finland.
Leukodystrophy and Leukoencephalopathy Panel Panel
Finland.
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 panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
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 panel Finland.
LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the LMNB1 gene.
More info about this panel Spain.
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy , Deletions-Duplications (MLPA) LMNB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LMNB1 gene.
More info about this panel Spain.
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
Spain.
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
More info about this panel Spain.
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