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.

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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


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

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

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

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

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

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

LPIN2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the LPIN2 gene.

More info about this panel

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

Majeed syndrome (sequence analysis of LPIN2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LPIN2 gene.

More info about this panel

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

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

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

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

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

Majeed syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LPIN2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

LPIN2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LPIN2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Majeed syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the LPIN2 gene.

More info about this panel

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


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