Familial cold autoinflammatory syndrome 1
- Synonyms
- CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; Familial cold inflammatory syndrome 1
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Aphthous stomatitis
Aphthous stomatitis
- MedGen UID: 20959
- Concept ID: C0038363
- Finding: Disease or Syndrome
Abnormality of head or neck
- Aphthous stomatitis
- Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
Elevated circulating C-reactive protein concentration
- MedGen UID: 892906
- Concept ID: C4023452
- Finding: Finding
Abnormality of metabolism/homeostasis
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
- Abnormality of the genitourinary system
- Renal amyloidosis
Renal amyloidosis
- MedGen UID: 120633
- Concept ID: C0268382
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal amyloidosis
- Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Leukocytosis
Leukocytosis
- MedGen UID: 9736
- Concept ID: C0023518
- Finding: Disease or Syndrome
Abnormality of the immune system
- Skin rash
Skin rash
- MedGen UID: 1830322
- Concept ID: C5779628
- Finding: Sign or Symptom
Abnormality of the immune system
- Uveitis
Uveitis
- MedGen UID: 52961
- Concept ID: C0042164
- Finding: Disease or Syndrome
Abnormality of the immune system
- Conjunctivitis
- Abnormality of the integument
- Urticaria
Urticaria
- MedGen UID: 22587
- Concept ID: C0042109
- Finding: Disease or Syndrome
Abnormality of the integument
- Urticaria
- Abnormality of the musculoskeletal system
- Arthritis
Arthritis
- MedGen UID: 2043
- Concept ID: C0003864
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthritis
- Abnormality of the nervous system
- Headache
Headache
- MedGen UID: 9149
- Concept ID: C0018681
- Finding: Sign or Symptom
Abnormality of the nervous system
- Headache
- Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Chills
Chills
- MedGen UID: 43211
- Concept ID: C0085593
- Finding: Sign or Symptom
Constitutional symptom
- Fatigue
Fatigue
- MedGen UID: 41971
- Concept ID: C0015672
- Finding: Sign or Symptom
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.