Cinca syndrome

Preferred Label : Cinca syndrome;

Symbol : CINCA;

CISMeF acronym : CAPS3; CINCA; NOMID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multisystem inflammatory disease, neonatal-onset; Chronic neurologic cutaneous and articular syndrome; NOMID; CAPS3; Cryopyrin-associated periodic syndrome 3;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by heterozygous mutation in the NLR family, pyrin domain-containing 3 gene (NLRP3, 606416.0007);

Prefixed ID : #607115;

Details

Origin ID

607115;

UMLS CUI

C0409818;

Automatic exact mappings (from CISMeF team)
- NOMID [MedDRA LLT]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
Currated CISMeF NLP mapping
- CINCA Syndrome [DO Concept]
- CINCA syndrome [PASCAL descriptor]
- CINCA syndrome [ORDO Disease]
- CINCA syndrome [MedDRA LLT]
- Chronic Infantile Neurological Cutaneous and Articular Syndrome [NCIt concept]
- Chronic infantile neurological cutaneous and articular syndrome [MedDRA Preferred Term]
- Chronic infantile neurological, cutaneous and articular syndrome [ICD-11 More detail]
- Chronic infantile neurological, cutaneous and articular syndrome (disorder) [SNOMED CT concept]
- Neonatal-onset multisystemic inflammatory disease [MedDRA LLT]
- chronic infantile neurological, cutaneous, and articular syndrome [MeSH concept]
- neonatal onset multisystem inflammatory disease [Disease (Nov.)]
DO Cross reference
- CINCA Syndrome [DO Concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 3 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Eosinophilia [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hepatosplenomegaly [HPO term]
- Infantile onset [HPO term]
- Leukocytosis [HPO term]
- Lymphadenopathy [HPO term]
- Lymphedema [HPO term]
- Meningitis [HPO term]
- Neonatal onset [HPO term]
- Papilledema [HPO term]
- Patellar overgrowth [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Proptosis [HPO term]
- Recurrent fever [HPO term]
- Seizure [HPO term]
- Skin rash [HPO term]
- Uveitis [HPO term]
ORDO concept(s)
- CINCA syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CINCA Syndrome [DO Concept]
- CINCA syndrome [MedDRA LLT]
- CINCA syndrome [ORDO Disease]
- CINCA syndrome [PASCAL descriptor]
- Chronic Infantile Neurological Cutaneous and Articular Syndrome [NCIt concept]
- Chronic infantile neurological cutaneous and articular syndrome [MedDRA Preferred Term]
- Chronic infantile neurological, cutaneous and articular syndrome [ICD-11 More detail]
- Chronic infantile neurological, cutaneous and articular syndrome (disorder) [SNOMED CT concept]
- NOMID [MedDRA LLT]
- Neonatal-onset multisystemic inflammatory disease [MedDRA LLT]
- chronic infantile neurological, cutaneous, and articular syndrome [MeSH concept]
- neonatal onset multisystem inflammatory disease [Disease (Nov.)]

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