CINCA
MCID: CHR282
MIFTS: 43

Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA) malady

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

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NIH Rare Diseases:42 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 based summary: 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, optic nerve anomaly/optic atrophy/anomaly of the papilla and hearing loss/hypoacusia/deafness. 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 neutrophil.

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:46 607115

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 21Genetics Home Reference, 46OMIM, 44Novoseek, 62UMLS, 26ICD10 via Orphanet
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Chronic Infantile Neurological Cutaneous Articular Syndrome, Aliases & Descriptions:

Name: Chronic Infantile Neurological Cutaneous Articular Syndrome 42 20 22 48
Cinca Syndrome 42 21 46 44 48
Infantile Onset Multisystem Inflammatory Disease 42 21 62
Neonatal Onset Multisystem Inflammatory Disease 42 21 62
Prieur-Griscelli Syndrome 21 48 62
Iomid Syndrome 21 48
Cinca 42 21
Nomid 42 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 42
Infantile-Onset Multisystem Inflammatory Disease 48
Neonatal-Onset Multisystem Inflammatory Disease 48
Prieur Griscelli Syndrome 42
Nomid Syndrome 48
Iomid 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cinca syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 607115
ICD10 via Orphanet26 E85.0

Related Diseases for Chronic Infantile Neurological Cutaneous Articular Syndrome

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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 syndrome10.5
2wells syndrome10.5
3pseudopapilledema10.3
4arthropathy10.2
5cryopyrin-associated periodic syndrome10.2
6cinca syndrome with nlrp3 mutations10.2
7cinca syndrome without nlrp3 mutations10.2
8hydrocephalus10.0
9familial mediterranean fever10.0
10posterior uveitis10.0
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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Clinical features from OMIM:

607115

Symptoms:

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

HPO human phenotypes related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 optic atrophy hallmark (90%) HP:0000648
4 urticaria hallmark (90%) HP:0001025
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 meningitis hallmark (90%) HP:0001287
7 abnormality of neutrophils hallmark (90%) HP:0001874
8 nausea and vomiting hallmark (90%) HP:0002017
9 migraine hallmark (90%) HP:0002076
10 increased intracranial pressure hallmark (90%) HP:0002516
11 arthralgia hallmark (90%) HP:0002829
12 myalgia hallmark (90%) HP:0003326
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 inflammatory abnormality of the eye hallmark (90%) HP:0100533
15 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
16 macrocephaly typical (50%) HP:0000256
17 visual impairment typical (50%) HP:0000505
18 proptosis typical (50%) HP:0000520
19 edema typical (50%) HP:0000969
20 polyneuropathy typical (50%) HP:0001271
21 arthritis typical (50%) HP:0001369
22 splenomegaly typical (50%) HP:0001744
23 abnormality of thrombocytes typical (50%) HP:0001872
24 anemia typical (50%) HP:0001903
25 leukocytosis typical (50%) HP:0001974
26 frontal bossing typical (50%) HP:0002007
27 hepatomegaly typical (50%) HP:0002240
28 skeletal dysplasia typical (50%) HP:0002652
29 lymphadenopathy typical (50%) HP:0002716
30 visual impairment occasional (7.5%) HP:0000505
31 limitation of joint mobility occasional (7.5%) HP:0001376
32 premature birth occasional (7.5%) HP:0001622
33 subcutaneous hemorrhage occasional (7.5%) HP:0001933
34 reduced bone mineral density occasional (7.5%) HP:0004349
35 cognitive impairment occasional (7.5%) HP:0100543
36 retrobulbar optic neuritis occasional (7.5%) HP:0100654

Drugs & Therapeutics for Chronic Infantile Neurological Cutaneous Articular Syndrome

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

32
Skin, Bone, Neutrophil, 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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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 a patient from Japan. (9266194)
1997

Variations for Chronic Infantile Neurological Cutaneous Articular Syndrome

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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:

6
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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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

Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet