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Items: 1 to 20 of 46

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; FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q; and FCAS4 (616115), caused by mutation in the NLRC4 gene (606831) on chromosome 2p22. [from GTR]

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 GTR]

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

Eosinophilic cellulitis

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

Autoinflammatory Syndrome

A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. [from NCI]

MedGen UID:
855741
Concept ID:
C3890737
Disease or Syndrome
5.

Familial cold autoinflammatory syndrome

MedGen UID:
833968
Concept ID:
CN230757
Disease or Syndrome
6.

Autoinflammatory syndrome

MedGen UID:
799669
Concept ID:
C3267073
Disease or Syndrome
7.

Hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
8.

Urticaria

A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema [from SNOMEDCT_US]

MedGen UID:
22587
Concept ID:
C0042109
Disease or Syndrome
9.

Arthralgia

Joint pain. [from HPO]

MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
10.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
11.

Leucine

An essential branched-chain amino acid important for hemoglobin formation. [from MeSH]

MedGen UID:
7312
Concept ID:
C0023401
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
12.

Inflammation

A localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
13.

Fever

A condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production. [from NCI]

MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
14.

Conjunctivitis

INFLAMMATION of the CONJUNCTIVA. [from MeSH]

MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
15.

Periodic Fever Syndrome

Fevers of unknown etiology recurring over months or years. [from NCI]

MedGen UID:
855463
Concept ID:
C3889979
Disease or Syndrome
16.

Hearing Loss

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

MedGen UID:
854601
Concept ID:
C3887873
Finding
17.

Periodic fever syndrome

MedGen UID:
798670
Concept ID:
C0015974
Disease or Syndrome
18.

Urticaria

MedGen UID:
776575
Concept ID:
C2186740
Finding
19.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Neoplastic Process
20.

Periodic

Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval, i.e., the symptom-free periods are always of the same length. [from HPO]

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
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