Nlrp12-associated Hereditary Periodic Fever Syndrome

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.

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.


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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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