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.
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
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
Search interest in LEMD3
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 United States.
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 United States.
LEMD3 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LEMD3 gene.
More info about this panel United States.
LEMD3 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the LEMD3 gene.
More info about this panel United States.
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 United States.
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 Spain.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
Buschke-Ollendorff syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LEMD3 gene.
More info about this panel Germany.
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 Germany.
Buschke-Ollendorff Syndrome Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the LEMD3 gene.
More info about this panel Spain.
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.
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 United States.
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 United States.
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 United States.
LEMD3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LEMD3 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
Melorheostosis Panel
Spain.
By Bioarray
This panel specifically test the LEMD3 gene.
More info about this panel Spain.
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 Spain.
Melorheostosis, Sequencing LEMD3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LEMD3 gene.
More info about this panel Spain.
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