ORPHA:1451
CINCA syndrome
Synonyms: Chronic infantile neurological cutaneous and articular syndrome · IOMID syndrome · Infantile-onset multisystem inflammatory disease · NOMID syndrome · Neonatal-onset multisystem inflammatory disease · Prieur-Griscelli syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CINCA syndrome | Chronic infantile neurological cutaneous and articular syndrome · IOMID syndrome · Infantile-onset multisystem inflammatory disease · NOMID syndrome · Neonatal-onset multisystem inflammatory disease · Prieur-Griscelli syndrome |
| fr | Syndrome CINCA | Maladie inflammatoire multisystémique de l'enfant · Maladie inflammatoire multisystémique néonatale · Syndrome de Prieur-Griscelli · Syndrome neurologique, cutané et articulaire infantile chronique |
| de | CINCA-Syndrom | Chronisch-infantiles-neurologisch-kutanes-artikuläres Syndrom · IOMID-Syndrom · Multisystemkrankheit, inflammatorische, infantil beginnende · Multisystemkrankheit, inflammatorische, neonatal beginnende · NOMID-Syndrom · Prieur-Griscelli-Syndrom |
| es | Síndrome CINCA | Enfermedad inflamatoria multisistémica de inicio en el lactante · Enfermedad inflamatoria multisistémica de inicio neonatal · Síndrome IOMID · Síndrome NOMID · Síndrome crónico articular-cutáneo-neurológico del lactante · Síndrome de Prieur-Griscelli |
| it | Sindrome CINCA | Malattia infiammatoria multisistemica a esordio neonatale · Malattia infiammatoria multisistemica infantile · Sindrome IOMID · Sindrome NOMID · Sindrome articolare-cutanea-neurologica infantile cronica · Sindrome di Prieur-Griscelli |
| nl | CINCA-syndroom | Chronisch infantiel neurologisch cutaan en articulair syndroom · IOMID-syndroom · Multisystemische inflammatoire aandoening met infantiele aanvang · Multisystemische inflammatoire aandoening met neonatale aanvang · NOMID-syndroom · Syndroom van Prieur-Griscelli |
| pt | Síndrome CINCA | Síndrome neuro-cutaneo-articular crónico do lactente |
| pl | Zespół CINCA | Przewlekły niemowlęcy zespół neurologiczno-skórno-stawowy · Zespół IOMID · Zespół NOMID · Zespół Prieura i Griscelli · Zespół wielonarządowej reakcji zapalnej o początku w okresie niemowlęcym · Zespół wielonarządowej reakcji zapalnej o początku w okresie noworodkowym |
| cs | Syndrom CINCA | Chronický infantilní neurologický kutánní artikulární syndrom · IOMID syndrom · NOMID syndrom · Multisystémový zánět začínající v dětství · Prieurův-Griscelliho syndrom · Prieur-Griscelliho syndrom |
| uk | Синдром CINCA | Хронічний дитячий неврологічний шкірно-суглобовий синдром · Мультисистемне запальне захворювання, що починається в дитинстві · Синдром IOMID · Неонатальне мультисистемне запальне захворювання · Синдром NOMID · Синдром Прієра-Грічеллі |
| zh | CINCA综合征 | 慢性婴儿神经皮肤关节病 |
| tr | CINCA sendromu | IOMID sendromu · NOMID sendromu · Prieur-Griscelli sendromu · Yenidoğan başlangıçlı multisistem inflamatuar hastalık · İnfantil başlangıçlı multisistem inflamatuar hastalık · Kronik infantil nörolojik kutanöz ve artiküler sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607115 | E | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 4A60.1 | NTBT | index | validated |
| MONDO | 0011776 | E | validated | |
| UMLS | C0409818 | E | validated | |
| GARD | 1356 | E | validated | |
| MedDRA | 10064568 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:208650NLRP3-associated autoinflammatory disease
rare genetic diseases; rare skin diseases; rare immunological diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:280926Systemic diseases with anterior uveitis
rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:93365OBSOLETE: CINCA syndrome with NLRP3 mutations referred to · inactive
- ORPHA:93367OBSOLETE: CINCA syndrome without NLRP3 mutations referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16400 | ENSG00000162711 | 606416 | 1q44 | NLR family pyrin domain containing 3 | 15801036[PMID]_12032915[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT]_21109514[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001911 | Abnormality of granulocytes | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0002829 | Arthralgia | |
| HP:0001156 | Brachydactyly | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0000365 | Hearing impairment | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0001287 | Meningitis | |
| HP:0002076 | Migraine | |
| HP:0003326 | Myalgia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0200034 | Papule | |
| HP:0000538 | Pseudopapilledema | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001025 | Urticaria | |
| HP:0000554 | Uveitis | |
| Frequent (79-30%) | ||
| HP:0001367 | Abnormal joint morphology | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0001903 | Anemia | |
| HP:0001476 | Delayed closure of the anterior fontanelle | |
| HP:0000969 | Edema | |
| HP:0002007 | Frontal bossing | |
| HP:0002240 | Hepatomegaly | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001373 | Joint dislocation | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000256 | Macrocephaly | |
| HP:0000520 | Proptosis | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0002353 | EEG abnormality | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001622 | Premature birth | |
| HP:0000979 | Purpura | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0100654 | Retrobulbar optic neuritis | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1451
- This record as JSON: /data/d/1451.json