Familial Cold Urticaria

Description

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Cold Urticaria

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Arthritis
  • Erythema

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Familial Cold Urticaria Is also known as fcas, familial cold autoinflammatory syndrome, fcu.

Researches and researchers

Doctors, researchs, and experts related to Familial Cold Urticaria extracted from public data.

Familial Cold Urticaria Experts map



Current Researchs and researchers

  • GENOVA — Dr Isabella CECCHERINI

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — S.C. di Genetica Molecolare e Citogenetica, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Research area/topic::

      Effects of CIAS-1 mutations in the pathogenesis of Cryopyrin associated periodic syndromes. Search for new genes and novel therapeutic strategies



Mendelian

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Familial Cold Urticaria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRC4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NLRC4
Specificity
100 %
Genes
50 %
NLRC4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

NLRC4
Specificity
100 %
Genes
50 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SH2D1A, SLC7A7, BTK, STX11, STXBP2, TNFRSF1A, CD27, CD70, WAS, NLRP3, NLRC4, ADA, LYST, UNC13D, MAGT1, AP3B1, XIAP, IL2RA, IL2RG, ITK , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Single gene testing NLRC4.

By CeGaT GmbH (Germany).

NLRC4
Specificity
100 %
Genes
50 %
Invitae Periodic Fever Syndromes Panel.

By Invitae (United States).

TNFRSF1A, LPIN2, NLRP3, NLRC4, TRNT1, ADA2, NLRP12, ELANE, MEFV, MVK, PSMB8, PSTPIP1
Specificity
17 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae (United States).

SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae (United States).

SH3BP2, TNFRSF1A, LPIN2, IL36RN, RBCK1, NLRP3, NLRC4, CARD14, TRNT1, ADA2, ADAM17, COPA, NLRP12, SLC29A3, ELANE, NOD2, IL10, IL10RA, IL10RB, IL1RN , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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