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.

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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

SOURCES: MESH ORPHANET OMIM


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

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

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

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

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

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

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

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

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

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

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

Single gene testing LMNB1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the LMNB1 gene.

More info about this panel

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

LMNB Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the LMNB1 gene.

More info about this panel

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

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

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

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

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

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

LMNB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LMNB1 gene.

More info about this panel

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

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

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

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

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

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


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