LEMD3 gene related symptoms and diseases

All the information presented here about the LEMD3 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 LEMD3 gene

Symptoms // Phenotype % Cases
Osteopoikilosis Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Subcutaneous nodule Common - Between 50% and 80% cases
Skeletal dysplasia Common - Between 50% and 80% cases
Bone pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LEMD3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Short stature
  • Complete duplication of the distal phalanges of the hand
  • Abnormal cortical bone morphology
  • Multiple lipomas
  • Pain
  • Atypical scarring of skin
  • Scleroderma
  • Generalized osteosclerosis

And 53 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LEMD3 gene

Here you will find a list of rare diseases related to the LEMD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MELORHEOSTOSIS


Alternate names

MELORHEOSTOSIS Is also known as mel

Description

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

Most common symptoms of MELORHEOSTOSIS

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


More info about MELORHEOSTOSIS

SOURCES: OMIM MESH ORPHANET

MELORHEOSTOSIS WITH OSTEOPOIKILOSIS


Alternate names

MELORHEOSTOSIS WITH OSTEOPOIKILOSIS Is also known as msbd syndrome, mixed sclerosing bone dystrophy

Description

Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.

Most common symptoms of MELORHEOSTOSIS WITH OSTEOPOIKILOSIS

  • Hypertension
  • Abnormality of the skin
  • Subcutaneous nodule
  • Multiple lipomas
  • Abnormal cortical bone morphology


More info about MELORHEOSTOSIS WITH OSTEOPOIKILOSIS

SOURCES: ORPHANET

ISOLATED OSTEOPOIKILOSIS


Most common symptoms of ISOLATED OSTEOPOIKILOSIS

  • Short stature
  • Microcephaly
  • Skeletal dysplasia
  • Subcutaneous nodule
  • Ectopic kidney


More info about ISOLATED OSTEOPOIKILOSIS

SOURCES: ORPHANET

BUSCHKE-OLLENDORFF SYNDROME


Alternate names

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis, osteopathia condensans disseminata, dermatoosteopoikilosis, dermatofibrosis lenticularis disseminata with osteopoikilosis, disseminated dermatofibrosis with osteopoikilosis

Description

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

Most common symptoms of BUSCHKE-OLLENDORFF SYNDROME

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


More info about BUSCHKE-OLLENDORFF SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for LEMD3 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

LEMD3 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LEMD3 gene.

More info about this panel

LEMD3 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LEMD3 gene.

More info about this panel

LEMD3 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LEMD3 gene.

More info about this panel

LEMD3 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LEMD3 gene.

More info about this panel

LEMD3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LEMD3 gene.

More info about this panel

Buschke-Ollendorff syndrome (sequence analysis of LEMD3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LEMD3 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

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Buschke-Ollendorff syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LEMD3 gene.

More info about this panel

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel

Buschke-Ollendorff Syndrome Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the LEMD3 gene.

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

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

LEMD3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LEMD3 gene.

More info about this panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10

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

Melorheostosis Panel

Spain.

By Bioarray

This panel specifically test the LEMD3 gene.

More info about this panel

BUSCHKE-OLLENDORFF SYNDROME (OSTEOPOIKILOSIS) Panel

Spain.

By Laboratorio de Genetica Clinica SL BUSCHKE-OLLENDORFF SYNDROME (OSTEOPOIKILOSIS) that also includes the following genes: SOX9 LEMD3

More info about this panel

Melorheostosis, Sequencing LEMD3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LEMD3 gene.

More info about this panel


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