CINCA syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL-ONSET
CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME
CAPS3
NOMID
CINCA
IOMID syndrome
Chronic infantile neurological cutaneous articular syndrome
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Infantile-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
Number of Symptoms 45
OrphanetNr: 1451
OMIM Id: 607115
ICD-10: G03.1
G44.8
L50.8
M08.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cryopyrin-associated periodic syndrome
 -Rare genetic disease
 -Rare immune disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease
Systemic diseases with anterior uveitis
 -Rare eye disease

Symptom Information: Sort by abundance 

1
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
4
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
5
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
6
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
7
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
8
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
9
 (HPO:0100654) Retrobulbar optic neuritis Occasional [Orphanet] 5 / 7739
10
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
11
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
12
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
13
 (HPO:0002516) Increased intracranial pressure Very frequent [Orphanet] 47 / 7739
14
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
15
 (HPO:0001287) Meningitis Very frequent [Orphanet] 46 / 7739
16
 (HPO:0010622) Neoplasm of the skeletal system Frequent [Orphanet] 30 / 7739
17
 (HPO:0002652) Skeletal dysplasia Frequent [Orphanet] 113 / 7739
18
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
19
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
20
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
21
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
22
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
23
 (HPO:0100774) Hyperostosis Very frequent [Orphanet] 17 / 7739
24
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
25
 (HPO:0001622) Premature birth Occasional [Orphanet] 100 / 7739
26
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
27
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
28
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
29
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
30
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
31
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
32
 (HPO:0001974) Leukocytosis Frequent [Orphanet] 33 / 7739
33
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
34
 (HPO:0001872) Abnormality of thrombocytes Frequent [Orphanet] 20 / 7739
35
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
36
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
37
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
38
 (HPO:0000969) Edema Frequent [Orphanet] 117 / 7739
39
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
40
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
41
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
42
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
43
 (OMIM) Stiff skin Very frequent [Orphanet] 31 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
45
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM CINCA syndrome, also known as 'neonatal onset multisystem inflammatory disease,' or NOMID, is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation ...
Molecular genetics OMIM Feldmann et al. (2002) identified heterozygous missense mutations in exon 3 of the CIAS1 gene (e.g., 606416.0007) in the affected members of each of 7 families with CINCA syndrome.

Of 3 patients with CINCA syndrome studied ...