Nlrp12-associated Hereditary Periodic Fever Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Nlrp12-associated Hereditary Periodic Fever Syndrome

NLRP12

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Clinical Features

Top most frequent phenotypes and symptoms related to Nlrp12-associated Hereditary Periodic Fever Syndrome

Intellectual disability
Hearing impairment
Sensorineural hearing impairment
Pain
Fever
Fatigue
Vomiting
Splenomegaly
Headache
Abdominal pain

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Nlrp12-associated Hereditary Periodic Fever Syndrome Is also known as familial cold autoinflammatory syndrome type 2, naps12, fcas2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Nlrp12-associated Hereditary Periodic Fever Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRP12 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). NLRP12 Specificity 100 % Genes 100 %
NLRP12 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). NLRP12 Specificity 100 % Genes 100 %
NLRP12. By Institute for Human Genetics University Clinic Freiburg (Germany). NLRP12 Specificity 100 % Genes 100 %
NALP12. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NLRP12 Specificity 100 % Genes 100 %
NLRP12. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NLRP12 Specificity 100 % Genes 100 %
NLRP12. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NLRP12 Specificity 100 % Genes 100 %
Familial Cold Autoinflammatory Syndrome 2 via NLRP12 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). NLRP12 Specificity 100 % Genes 100 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TNFAIP3, TNFRSF1A, LPIN2, IL36RN, NLRP3, CARD14, NLRP12, ELANE, NOD2, MEFV, MVK, PSMB8, PSTPIP1 Specificity 8 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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