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

Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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.

Description from OMIM:48 607115

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
cinca syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

chronic infantile neurological cutaneous articular syndrome 44 21 23 50
cinca syndrome 44 22 48 46 50
infantile onset multisystem inflammatory disease 44 22
neonatal onset multisystem inflammatory disease 44 22
prieur-griscelli syndrome 22 50
iomid syndrome 22 50
cinca 44 22
nomid 44 22
chronic infantile neurological, cutaneous, and articular syndrome 63
chronic infantile neurological, cutaneous and articular syndrome 22
chronic infantile neurologic, cutaneous, and articular syndrome 22
chronic neurologic, cutaneous, and articular syndrome 22
multisystem inflammatory disease, neonatal-onset 44
infantile-onset multisystem inflammatory disease 50
neonatal-onset multisystem inflammatory disease 50
prieur griscelli syndrome 44
nomid syndrome 50
iomid 44


External Ids:

OMIM48 607115
SNOMED-CT via Orphanet60 239826001
ICD10 via Orphanet27 E85.0

Related Diseases for Chronic Infantile Neurological Cutaneous Articular Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Clinical features from OMIM:

607115

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Genetic Tests for Chronic Infantile Neurological Cutaneous Articular Syndrome

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21GeneTests, 23GTR
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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 Syndrome21 NLRP3
2 Chronic Infantile Neurological, Cutaneous and Articular Syndrome23

Anatomical Context for Chronic Infantile Neurological Cutaneous Articular Syndrome

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34MalaCards
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MalaCards organs/tissues related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

34
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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53PubMed
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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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65UniProtKB/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:

65 (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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet