LPIN2 gene related symptoms and diseases
All the information presented here about the LPIN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LPIN2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Inflammatory abnormality of the skin | Very Common - Between 80% and 100% cases |
| Flexion contracture | Very Common - Between 80% and 100% cases |
| Fever | Very Common - Between 80% and 100% cases |
| Congenital hypoplastic anemia | Very Common - Between 80% and 100% cases |
| Chronic recurrent multifocal osteomyelitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LPIN2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Arthralgia
- Bone pain
Not very common - Between 30% and 50% cases
- Failure to thrive
- Synovitis
- Abnormality of bone marrow cell morphology
- Abnormal inflammatory response
- Growth delay
- Delayed skeletal maturation
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LPIN2 gene
Here you will find a list of rare diseases related to the LPIN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MAJEED SYNDROME
Alternate names
MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
Description
Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.
Most common symptoms of MAJEED SYNDROME
- Failure to thrive
- Flexion contracture
- Hepatomegaly
- Fever
- Edema
More info about MAJEED SYNDROME
SOURCES: ORPHANET
MAJEED SYNDROME; MJDS
Alternate names
MAJEED SYNDROME; MJDS Is also known as chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis
Most common symptoms of MAJEED SYNDROME; MJDS
- Growth delay
- Anemia
- Flexion contracture
- Fever
- Delayed skeletal maturation
More info about MAJEED SYNDROME; MJDS
SOURCES: OMIM
Search interest in LPIN2
Potential gene panels for LPIN2 gene
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 ALAS2 GATA1 KLF1 KIF23
More info about this panel United States.
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Dyserythropoietic Anemia Deletion/Duplication Panel that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 GATA1 KLF1 KIF23
More info about this panel United States.
Hemolytic Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel United States.
LPIN2 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the LPIN2 gene.
More info about this panel United States.
LPIN2 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the LPIN2 gene.
More info about this panel United States.
LPIN2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LPIN2 gene.
More info about this panel Germany.
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Majeed syndrome (sequence analysis of LPIN2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LPIN2 gene.
More info about this panel Portugal.
Majeed Syndrome via LPIN2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LPIN2 gene.
More info about this panel United States.
Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV
More info about this panel United States.
Majeed syndrome (LPIN2) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the LPIN2 gene.
More info about this panel Netherlands.
Autoinflammatory panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2
More info about this panel Netherlands.
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.
Majeed syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LPIN2 gene.
More info about this panel Germany.
Autoinflammatory diseases Panel Panel
Germany.
By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE
More info about this panel Germany.
Erythrocytes, Anemia Panel Panel
Germany.
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panel Germany.
Invitae Periodic Fever Syndromes Panel Panel
United States.
By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Autoinflammatory Syndromes Panel Panel
United States.
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panel United States.
Periodic fever syndromes Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Periodic fever syndromes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel Spain.
Hereditary Periodic Fever Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Sequencing Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Periodic Fevers Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Periodic Fevers Syndrome NGS Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
LPIN2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LPIN2 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Periodic Fever NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Periodic Fever NGS and Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panel United States.
LPIN2 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the LPIN2 gene.
More info about this panel United States.
PERIODIC FEVER Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC FEVER that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panel Spain.
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: CCN6 LPIN2 TRPV4 ACAN HPGD IL1RN
More info about this panel Spain.
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel Spain.
Majeed syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the LPIN2 gene.
More info about this panel Germany.
Majeed Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the LPIN2 gene.
More info about this panel Canada.
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