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.
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
Search interest in NLRP12
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 United States.
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 United States.
NLRP12 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the NLRP12 gene.
More info about this panel Germany.
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 Spain.
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 Spain.
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 Spain.
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 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.
NLRP12 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the NLRP12 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.
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 Germany.
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.
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.
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.
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 United States.
NLRP12 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NLRP12 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.
Familial cold urticaria type 2 Panel
Spain.
By Bioarray
This panel specifically test the NLRP12 gene.
More info about this panel Spain.
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.
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 United States.
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 Spain.
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.
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 Spain.
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