LBR gene related symptoms and diseases

All the information presented here about the LBR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LBR gene

Symptoms // Phenotype % Cases
Macrocephaly Common - Between 50% and 80% cases
Skeletal dysplasia Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LBR gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Splenomegaly
  • Global developmental delay
  • Hyposegmentation of neutrophil nuclei
  • Prominent forehead
  • Brachydactyly
  • Rhizomelia
  • Hepatomegaly
  • Edema

And 170 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LBR gene

Here you will find a list of rare diseases related to the LBR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PELGER-HUET ANOMALY; PHA


Description

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Most common symptoms of PELGER-HUET ANOMALY; PHA

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


More info about PELGER-HUET ANOMALY; PHA

SOURCES: OMIM MESH

REYNOLDS SYNDROME


Alternate names

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma, primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Description

Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

Most common symptoms of REYNOLDS SYNDROME

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


More info about REYNOLDS SYNDROME

SOURCES: OMIM ORPHANET

GREENBERG DYSPLASIA


Alternate names

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type, hem dysplasia, moth-eaten skeletal dysplasia, hem skeletal dysplasia, hydrops-ectopic calcification-motheaten syndrome, hydrops-ectopic calcification-moth-eaten skeletal dysplasia, chondrodystrophy, hydropic and prenatally le

Description

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

Most common symptoms of GREENBERG DYSPLASIA

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


More info about GREENBERG DYSPLASIA

SOURCES: ORPHANET OMIM MESH

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA


Alternate names

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Description

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

Most common symptoms of REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

SOURCES: OMIM ORPHANET


Potential gene panels for LBR gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A

More info about this panel

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal dysplasia (NGS panel for 31 genes) Panel

Portugal.

By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1

More info about this panel

Greenberg dysplasia (sequence analysis of LBR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LBR gene.

More info about this panel

Greenberg Dysplasia Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the LBR gene.

More info about this panel

Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via LBR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LBR gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Chondrodysplasia punctata and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Deletion / Duplication panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Chondrodysplasia punctata and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Comprehensive panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Chondrodysplasia punctata and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders NGS panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Skeletal dysplasia extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP

More info about this panel

Skeletal dysplasia core & extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel

Skeletal dysplasia extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP

More info about this panel

Skeletal dysplasia core & extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel

Skeletal dysplasia core & extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel

Skeletal dysplasia extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel

Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

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

Single gene testing LBR Panel

Germany.

By CeGaT GmbH

This panel specifically test the LBR gene.

More info about this panel

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel

Chondrodysplasia punctata Panel Panel

Germany.

By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX7

More info about this panel

Skeletal dysplasias Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

LBR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LBR gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Chondrodysplasia Punctata Panel Panel

Finland.

By Blueprint Genetics Chondrodysplasia Punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX14 PEX7 PEX19

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

SKELETAL DYSPLASIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2

More info about this panel

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel

Spain.

By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel

Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: IMPAD1 EBP AGPS GNPAT LBR ARSE PEX7

More info about this panel


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