Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 13

1.

Familial cold urticaria

Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13, and FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q. [from OMIM]

MedGen UID:
137986
Concept ID:
C0343068
Disease or Syndrome
2.

Familial amyloid nephropathy with urticaria AND deafness

Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features. [from OMIM]

MedGen UID:
120634
Concept ID:
C0268390
Disease or Syndrome
3.

Eosinophilic cellulitis

MedGen UID:
91008
Concept ID:
C0343101
Disease or Syndrome
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Autoinflammatory syndrome

MedGen UID:
799669
Concept ID:
C3267073
Disease or Syndrome
6.

Caspase Activation

Caspase Activation involves induction of the activity of intracellular cysteine endopeptidase family members kept inactive by mitochondrial surface proteins (BcL-2 Family) and involved in initial signaling and downstream proteolytic cleavages (at P1 aspartic acids) in inflammation and apoptotic cell death when signals block BcL-2 function and activators initiate caspase cascades. [from NCI]

MedGen UID:
223891
Concept ID:
C1159825
Molecular Function
7.

Chronic infantile neurological, cutaneous and articular syndrome

Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002). See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype. [from OMIM]

MedGen UID:
98370
Concept ID:
C0409818
Disease or Syndrome
8.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Pharmacologic Substance
9.

Inflammation

A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
10.

Disorder of immune system

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these foreign invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include: -Allergy and asthma - immune responses to substances that are usually not harmful. -Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts. -Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
5759
Concept ID:
C0021053
Disease or Syndrome
11.

Autoimmune disease

Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.  [from MedlinePlus]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
12.

CINCA syndrome without CIAS1 mutations

MedGen UID:
798962
Concept ID:
CN206592
Disease or Syndrome
13.

Familial cold autoinflammatory syndrome 3

Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100). [from OMIM]

MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...