CINCA
MCID: CHR282
MIFTS: 42

Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Neuronal diseases, Blood diseases categories
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Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Chronic infantile neurologic cutaneous and articular (cinca) syndrome, also known as 'neonatal onset multisystem inflammatory disease,' or nomid, is a congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms (skin rash), chronic meningitis, and joint pain with recurrent fever and inflammation. cinca is the most severe form of the cryopyrin associated periodic syndromes (caps) caused by mutations in the cias1/nlrp3 gene. about 50% of affected individuals have mutations in this gene. this condition is inherited in an autosomal dominant fashion. last updated: 7/15/2009

MalaCards: Chronic Infantile Neurological Cutaneous Articular Syndrome, also known as cinca syndrome, is related to muckle-wells syndrome and wells syndrome, and has symptoms including chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis, biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp and platelet disorders/thrombopathies. An important gene associated with Chronic Infantile Neurological Cutaneous Articular Syndrome is NLRP3 (NLR family, pyrin domain containing 3). Affiliated tissues include skin, bone and eye.

Genetics Home Reference:21 Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.

Description from OMIM:47 607115

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cinca syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

chronic infantile neurological cutaneous articular syndrome 43 20 22 49
cinca syndrome 43 21 47 45 49
infantile onset multisystem inflammatory disease 43 21
neonatal onset multisystem inflammatory disease 43 21
prieur-griscelli syndrome 21 49
iomid syndrome 21 49
cinca 43 21
nomid 43 21
chronic infantile neurological, cutaneous, and articular syndrome 62
chronic infantile neurological, cutaneous and articular syndrome 21
chronic infantile neurologic, cutaneous, and articular syndrome 21
chronic neurologic, cutaneous, and articular syndrome 21
multisystem inflammatory disease, neonatal-onset 43
infantile-onset multisystem inflammatory disease 49
neonatal-onset multisystem inflammatory disease 49
prieur griscelli syndrome 43
nomid syndrome 49
iomid 43


External Ids:

OMIM47 607115
SNOMED-CT via Orphanet59 239826001
ICD10 via Orphanet26 E85.0

Related Diseases for Chronic Infantile Neurological Cutaneous Articular Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Chronic Infantile Neurological Cutaneous Articular Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome10.4
2wells syndrome10.4
3pseudopapilledema10.3
4arthropathy10.2
5cryopyrin-associated periodic syndrome10.2
6cinca syndrome with nlrp3 mutations10.2
7cinca syndrome without cias1 mutations10.2
8familial mediterranean fever10.0
9posterior uveitis10.0
10hydrocephalus10.0
11papilledema10.0
12uveitis10.0
13familial cold autoinflammatory syndrome10.0

Graphical network of diseases related to Chronic Infantile Neurological Cutaneous Articular Syndrome:



Diseases related to chronic infantile neurological cutaneous articular syndrome

Symptoms for Chronic Infantile Neurological Cutaneous Articular Syndrome

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47OMIM, 49Orphanet
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Clinical features from OMIM:

607115

Symptoms:

49 (show all 46)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • platelet disorders/thrombopathies
  • large fontanelle/delayed fontanelle closure
  • purpura/petichiae
  • facial pain/cephalalgia/migraine
  • urticaria
  • myalgia/muscular pain
  • short hand/brachydactyly
  • meningitis/meningeal syndrome
  • polynuclear cells/neutrophils anomalies/neutropenia
  • bone/osseous hyperplasia
  • retrobulbar optic neuritis
  • neuritis/polyneuritis/multineuritis
  • hyperleukocytosis/leukocytosis
  • enanthema/aphtosa/aphta/leukoplakia
  • lymphadenopathy/polyadenopathies
  • prematurity
  • bone tumefaction/swelling
  • proptosis/exophthalmos
  • cutaneous edema
  • follicular/erythematous/edematous papules/milium
  • hepatomegaly/liver enlargement (excluding storage disease)
  • dermal/subcutaneous infiltration/induration
  • hearing loss/hypoacusia/deafness
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • joint/articular deformation
  • frontal bossing/prominent forehead
  • splenomegaly
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • cranial hypertension
  • anaemia
  • articular/joint pain/arthralgia
  • fever/chilling
  • asthenia/fatigue/weakness
  • visual loss/blindness/amblyopia
  • sensorineural deafness/hearing loss
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • restricted joint mobility/joint stiffness/ankylosis
  • arthritis/synovitis/synovial proliferation
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Chronic Infantile Neurological Cutaneous Articular Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Chronic Infantile Neurological Cutaneous Articular Syndrome

Search NIH Clinical Center for Chronic Infantile Neurological Cutaneous Articular Syndrome

Genetic Tests for Chronic Infantile Neurological Cutaneous Articular Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

id Genetic test Affiliating Genes
1 Chronic Infantile Neurological Cutaneous and Articular Syndrome20 NLRP3
2 Chronic Infantile Neurological, Cutaneous and Articular Syndrome22

Anatomical Context for Chronic Infantile Neurological Cutaneous Articular Syndrome

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33MalaCards
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MalaCards organs/tissues related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

33
Skin, Bone, Eye, Liver

Animal Models for Chronic Infantile Neurological Cutaneous Articular Syndrome or affiliated genes

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Publications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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52PubMed
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Articles related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

idTitleAuthorsYear
1
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. (20039428)
2010
2
A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. (20131270)
2010
3
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (16255047)
2005
4
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. (15334500)
2004
5
Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (15476236)
2004
6
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. (12928894)
2003
7
Chronic infantile neurological cutaneous articular syndrome in an Arab patient. (11737717)
2001
8
Chronic infantile neurological cutaneous articular syndrome in a patient from Japan. (9266194)
1997

Variations for Chronic Infantile Neurological Cutaneous Articular Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Chronic Infantile Neurological Cutaneous Articular Syndrome:

64 (show all 20)
id Symbol AA change Variation ID SNP ID
1NLRP3p.Asp305AsnVAR_014105
2NLRP3p.Phe311SerVAR_014106
3NLRP3p.Phe575SerVAR_014108
4NLRP3p.Thr350MetVAR_014366
5NLRP3p.His360ArgVAR_014367
6NLRP3p.Thr438AsnVAR_014368
7NLRP3p.Met664ThrVAR_014370
8NLRP3p.Tyr861CysVAR_023551
9NLRP3p.Ile174ThrVAR_043679
10NLRP3p.Arg262LeuVAR_043680
11NLRP3p.Arg262ProVAR_043681
12NLRP3p.Leu266HisVAR_043682
13NLRP3p.Asp305GlyVAR_043683
14NLRP3p.Gln308LeuVAR_043684
15NLRP3p.Glu356AspVAR_043686
16NLRP3p.Thr407ProVAR_043687
17NLRP3p.Thr438IleVAR_043688
18NLRP3p.Phe525LeuVAR_043690
19NLRP3p.Tyr572CysVAR_043691
20NLRP3p.Leu634PheVAR_043692

Clinvar genetic disease variations for Chronic Infantile Neurological Cutaneous Articular Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NLRP3NM_004895.4(NLRP3): c.1724T> C (p.Phe575Ser)single nucleotide variantPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
2NLRP3NM_004895.4(NLRP3): c.913G> A (p.Asp305Asn)single nucleotide variantPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
3NLRP3NM_004895.4(NLRP3): c.932T> C (p.Phe311Ser)single nucleotide variantPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677

Expression for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

Search GEO for disease gene expression data for Chronic Infantile Neurological Cutaneous Articular Syndrome.

Pathways for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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Compounds for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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GO Terms for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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Products for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet