NLRP12 gene related symptoms and diseases

All the information presented here about the NLRP12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NLRP12 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Lymphadenopathy Very Common - Between 80% and 100% cases
Malar rash Very Common - Between 80% and 100% cases
Limb pain Very Common - Between 80% and 100% cases
Neuritis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NLRP12 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Lower limb pain
  • Lymphocytosis
  • Elevated C-reactive protein level
  • Recurrent aphthous stomatitis
  • Episodic fever
  • Leukocytosis
  • Urticaria
  • Bilateral sensorineural hearing impairment

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NLRP12 gene

Here you will find a list of rare diseases related to the NLRP12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME


Alternate names

NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME Is also known as familial cold autoinflammatory syndrome type 2, naps12, fcas2

Description

NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.

Most common symptoms of NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever


More info about NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

SOURCES: OMIM ORPHANET MESH


Potential gene panels for NLRP12 gene

NLRP12 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 NLRP12 gene.

More info about this panel

NLRP12 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 NLRP12 gene.

More info about this panel

NLRP12 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NLRP12 gene.

More info about this panel

NALP12. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NLRP12 gene.

More info about this panel

NLRP12. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NLRP12 gene.

More info about this panel

NLRP12. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NLRP12 gene.

More info about this panel

Familial Cold Autoinflammatory Syndrome 2 via NLRP12 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NLRP12 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

NLRP12 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the NLRP12 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

Cold autoinflammatory syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NLRP12 gene.

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

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

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

Invitae Familial Cold Autoinflammatory Syndrome Panel Panel

United States.

By Invitae Invitae Familial Cold Autoinflammatory Syndrome Panel that also includes the following genes: NLRP3 NLRC4 NLRP12 PLCG2

More info about this panel

NLRP12 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NLRP12 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

Familial cold urticaria type 2 Panel

Spain.

By Bioarray

This panel specifically test the NLRP12 gene.

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

NLRP12 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 NLRP12 gene.

More info about this panel

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL COLD AUTOINFLAMMATORY SYNDROME that also includes the following genes: NLRP3 NLRC4 NLRP12

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

Familial Cold Autoinflammatory Syndrome Type 2 , Sequencing NLRP12 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NLRP12 gene.

More info about this panel


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