MCID: CNC002
MIFTS: 62

Cinca Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases, Neuronal diseases

Aliases & Classifications for Cinca Syndrome

MalaCards integrated aliases for Cinca Syndrome:

Name: Cinca Syndrome 57 12 53 25 59 75 13 55 15 38
Cinca 57 53 25 75
Nomid 57 53 25 75
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 25 29 6
Chronic Infantile Neurological Cutaneous Articular Syndrome 12 53 59
Neonatal Onset Multisystem Inflammatory Disease 53 25 75
Cryopyrin-Associated Periodic Syndrome 3 57 12 75
Prieur-Griscelli Syndrome 12 25 59
Iomid Syndrome 12 25 59
Chronic Neurologic Cutaneous and Articular Syndrome 57 12
Multisystem Inflammatory Disease, Neonatal-Onset 57 53
Infantile-Onset Multisystem Inflammatory Disease 12 59
Infantile Onset Multisystem Inflammatory Disease 53 25
Neonatal-Onset Multisystem Inflammatory Disease 12 59
Cryopyrin-Associated Periodic Syndromes 44 73
Nomid Syndrome 12 59
Caps3 57 75
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 73
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome 76
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 25
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 75
Multisystem Inflammatory Disease, Neonatal-Onset; Nomid 57
Chronic Neurologic, Cutaneous, and Articular Syndrome 25
Cryopyrin-Associated Periodic Syndrome 3; Caps3 57
Prieur Griscelli Syndrome 53
Cinca Syndrome ) 40
Iomid 53

Characteristics:

Orphanet epidemiological data:

59
cinca syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, neonatal to 3 years


HPO:

32
cinca syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cinca Syndrome

NIH Rare Diseases : 53 Chronic infantile neurologic cutaneous articular (CINCA) syndrome is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with CINCA syndrome have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures, and vomiting resulting from chronic meningitis (inflammation of the tissue that covers and protects the brain and spinal cord); intellectual disability; episodes of mild fever; and hearing and vision problems. CINCA syndrome is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the NLRP3 (CIAS1) gene. About 50% of affected individuals with CINCA syndrome are found to have mutations in this gene. This condition is inherited in an autosomal dominant manner. Treatment may include the use of medications to suppress the process of inflammation, such as anti-inflammatories, corticosteroids, and interleukin-1 beta receptors.

MalaCards based summary : Cinca Syndrome, also known as cinca, is related to cryopyrin-associated periodic syndrome and systemic onset juvenile idiopathic arthritis, and has symptoms including recurrent fevers An important gene associated with Cinca Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and Toll-like Receptor Signaling Pathway. The drugs Topiramate and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are macrocephaly and sensorineural hearing impairment

OMIM : 57 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 syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype. (607115)

UniProtKB/Swiss-Prot : 75 Chronic infantile neurologic cutaneous and articular syndrome: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A hypersensitivity reaction type II disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has material basis in heterozygous mutation in the NLRP3 gene on chromosome 1q.

Wikipedia : 76 Neonatal-onset multisystem inflammatory disease (abbreviated NOMID, also known as chronic infantile... more...

Related Diseases for Cinca Syndrome

Diseases related to Cinca Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 32.0 IL1R1 IL1RN NLRP3
2 systemic onset juvenile idiopathic arthritis 31.2 IL1B MEFV
3 muckle-wells syndrome 29.8 CASP1 IL1B IL1R1 MEFV NLRP3
4 familial cold autoinflammatory syndrome 1 29.0 CASP1 IL1B IL1R1 MEFV NLRP3
5 cold urticaria 10.6 IL1R1 NLRP3
6 psoriatic juvenile idiopathic arthritis 10.5 MEFV NLRP3
7 erysipeloid 10.5 MEFV NLRP3
8 pyoderma 10.4 IL1R1 MEFV
9 neisseria meningitidis infection 10.3 IL1R1 IL1RN
10 tinea favosa 10.3 CASP1 NLRP3
11 exanthem 10.3 IL1RN NLRP3
12 paratyphoid fever 10.3 CASP1 IL1R1
13 relapsing fever 10.2 MEFV MVK
14 hyper-igd syndrome 10.2 IL1RN MVK
15 brucellosis 10.0 IL1RN MEFV
16 legionellosis 10.0 CASP1 NLRC4
17 ocular hypertension 10.0
18 hydrocephalus 10.0
19 arthropathy 9.9
20 periodic fever, familial, autosomal dominant 9.9 MEFV MVK NLRP3
21 pyoderma gangrenosum 9.9 MEFV MVK NLRP3
22 mevalonic aciduria 9.9 IL1RN MVK NLRP3
23 pharyngitis 9.8 IL1B MEFV
24 gastric cancer, hereditary diffuse 9.8 IL1B IL1RN
25 cerebral artery occlusion 9.8 IL1B IL1RN
26 palindromic rheumatism 9.8 IL1B MEFV
27 pyle disease 9.8
28 arthritis 9.8
29 posterior uveitis 9.8
30 uveitis 9.8
31 papilledema 9.8
32 retinitis 9.8
33 fundus dystrophy 9.8
34 osteosclerotic myeloma 9.8 IL1B IL1RN
35 meningococcemia 9.8 IL1B IL1RN
36 root resorption 9.7 IL1B IL1RN
37 extrapulmonary tuberculosis 9.7 IL1B IL1RN
38 dengue shock syndrome 9.7 IL1B IL1RN
39 pericarditis 9.7 IL1B MEFV
40 idiopathic neutropenia 9.7 IL1B IL1RN
41 somatoform disorder 9.7 IL1B IL1RN
42 chorioamnionitis 9.6 IL1B IL1R1
43 gastric ulcer 9.6 IL1B IL1RN
44 peptic ulcer disease 9.6 IL1B IL1RN
45 silicosis 9.5 IL1B IL1RN NLRP3
46 aggressive periodontitis 9.5 IL1B IL1RN
47 bone inflammation disease 9.5 IL1B IL1RN NLRP3
48 pneumoconiosis 9.5 IL1B NLRP3
49 joint disorders 9.5 IL1B IL1R1 IL1RN
50 autoinflammation, lipodystrophy, and dermatosis syndrome 9.4 IL1B IL1R1 IL1RN

Graphical network of the top 20 diseases related to Cinca Syndrome:



Diseases related to Cinca Syndrome

Symptoms & Phenotypes for Cinca Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Head And Neck Eyes:
protruding eyes
visual defects, progressive

Skeletal:
joint inflammation
bone defects involving the growth cartilage or bone epiphysis

Skin Nails Hair Skin:
skin rash, persistent and migratory

Neurologic Central Nervous System:
meningitis, chronic, due to polymorphonuclear cell infiltration

Growth Other:
growth retardation

Head And Neck Ears:
hearing loss, sensorineural, progressive

Skeletal Limbs:
short distal limbs

Skin Nails Hair Skin Histology:
perivascular polymorphonuclear infiltrates

Metabolic Features:
fever, recurrent


Clinical features from OMIM:

607115

Human phenotypes related to Cinca Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
4 pseudopapilledema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000538
5 uveitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000554
6 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
7 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
8 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
9 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
13 meningitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001287
14 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
15 delayed closure of the anterior fontanelle 59 32 frequent (33%) Frequent (79-30%) HP:0001476
16 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
17 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
18 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
19 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
20 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
21 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
22 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
23 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
24 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
25 migraine 59 32 hallmark (90%) Very frequent (99-80%) HP:0002076
26 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
27 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
28 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
29 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
30 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
31 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
32 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
33 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
34 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
35 elevated c-reactive protein level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011227
36 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
37 retrobulbar optic neuritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100654
38 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
39 hearing impairment 59 Very frequent (99-80%)
40 visual impairment 59 Frequent (79-30%)
41 abnormal joint morphology 59 Frequent (79-30%)
42 abnormality of thrombocytes 59 Frequent (79-30%)
43 abnormality of granulocytes 59 Very frequent (99-80%)
44 inflammatory abnormality of the eye 59 Very frequent (99-80%)
45 progressive sensorineural hearing impairment 32 HP:0000408
46 abnormal thrombocyte morphology 32 frequent (33%) HP:0001872

UMLS symptoms related to Cinca Syndrome:


recurrent fevers

GenomeRNAi Phenotypes related to Cinca Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 CASP1 IL1B NLRP3 PYCARD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 CASP1 IL1B NLRC4 NLRP3 PYCARD

MGI Mouse Phenotypes related to Cinca Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 NLRC4 NLRP3 PYCARD CASP1 IL1B IL1R1
2 homeostasis/metabolism MP:0005376 9.7 NLRP3 PYCARD CASP1 IL1B IL1R1 IL1RN
3 immune system MP:0005387 9.56 NLRC4 NLRP3 PYCARD CASP1 IL1B IL1R1
4 integument MP:0010771 9.1 NLRP3 CASP1 IL1B IL1R1 IL1RN MEFV

Drugs & Therapeutics for Cinca Syndrome

Drugs for Cinca Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4 97240-79-4 5284627
2 Anticonvulsants Phase 4
3 Anti-Obesity Agents Phase 4
4 Neuroprotective Agents Phase 4
5 Protective Agents Phase 4
6 Antibodies Phase 3
7 Antibodies, Monoclonal Phase 3
8 Immunoglobulins Phase 3
9 Vaccines Phase 3
10 Antirheumatic Agents Phase 1, Phase 2
11 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2,Phase 2
12
Pancrelipase Approved, Investigational 53608-75-6
13
Secretin Approved, Investigational 108153-74-8
14 Gastrointestinal Agents
15 Hormone Antagonists
16 Hormones
17 Hormones, Hormone Substitutes, and Hormone Antagonists
18 pancreatin
19 Vitamins Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Placebo Controled Clinical Trial Using Topiramate To Treat Posttraumatic Stress Disorder (PTSD) Patients. Completed NCT00725920 Phase 4 Topiramate;placebo control group
2 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
3 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
4 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
5 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
6 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
7 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
8 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
9 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
10 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
11 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
12 Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress Disorder Completed NCT01517672 Not Applicable
13 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Completed NCT01919359 Not Applicable
14 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
15 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT00059748

Search NIH Clinical Center for Cinca Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Cinca Syndrome

Genetic tests related to Cinca Syndrome:

# Genetic test Affiliating Genes
1 Chronic Infantile Neurological, Cutaneous and Articular Syndrome 29 NLRP3

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

41
Skin, Brain, Spinal Cord, Bone, Eye, Neutrophil, Pancreas

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show all 29)
# Title Authors Year
1
Correction to: Yuki Harada et al., CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 29219639 )
2018
2
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade. ( 29766377 )
2018
3
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. ( 27927236 )
2016
4
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 27320017 )
2016
5
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. ( 26585548 )
2015
6
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 25867226 )
2015
7
CINCA syndrome in an infant presenting with hydrocephalus. ( 24618115 )
2014
8
Neonatal treatment of CINCA syndrome. ( 25584041 )
2014
9
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. ( 22333493 )
2012
10
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. ( 22723549 )
2012
11
Post-inflammatory retinal dystrophy in CINCA syndrome. ( 19424698 )
2010
12
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. ( 20005004 )
2010
13
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. ( 19890791 )
2009
14
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 21686518 )
2009
15
Anesthesia in an infant with a CINCA syndrome. ( 18312510 )
2008
16
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. ( 18558058 )
2008
17
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. ( 17891446 )
2008
18
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. ( 17244662 )
2007
19
Anakinra in mutation-negative CINCA syndrome. ( 16440135 )
2007
20
CINCA Syndrome. ( 18175851 )
2007
21
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. ( 16920754 )
2007
22
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. ( 17473513 )
2007
23
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 17179131 )
2007
24
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. ( 16449034 )
2006
25
Hydrocephalus in CINCA syndrome treated with anakinra. ( 16525848 )
2006
26
Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased tumour necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with CINCA syndrome. ( 16284353 )
2005
27
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. ( 16100350 )
2005
28
Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 15671048 )
2005
29
The CINCA syndrome: a rare cause of chronic arthritis and multisystem inflammatory disorders. ( 11196366 )
2000

Variations for Cinca Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Cinca Syndrome:

75 (show all 20)
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Asp305Asn VAR_014105 rs121908153
2 NLRP3 p.Phe311Ser VAR_014106 rs121908154
3 NLRP3 p.Phe575Ser VAR_014108 rs121908152
4 NLRP3 p.Thr350Met VAR_014366 rs151344629
5 NLRP3 p.His360Arg VAR_014367 rs180177434
6 NLRP3 p.Thr438Asn VAR_014368 rs180177433
7 NLRP3 p.Met664Thr VAR_014370 rs180177435
8 NLRP3 p.Tyr861Cys VAR_023551 rs180177452
9 NLRP3 p.Ile174Thr VAR_043679 rs180177449
10 NLRP3 p.Arg262Leu VAR_043680 rs180177442
11 NLRP3 p.Arg262Pro VAR_043681 rs180177442
12 NLRP3 p.Leu266His VAR_043682 rs180177436
13 NLRP3 p.Asp305Gly VAR_043683 rs180177447
14 NLRP3 p.Gln308Lys VAR_043684 rs180177432
15 NLRP3 p.Glu356Asp VAR_043686 rs180177444
16 NLRP3 p.Thr407Pro VAR_043687 rs180177445
17 NLRP3 p.Thr438Ile VAR_043688 rs180177433
18 NLRP3 p.Phe525Leu VAR_043690 rs180177439
19 NLRP3 p.Tyr572Cys VAR_043691 rs180177438
20 NLRP3 p.Leu634Phe VAR_043692 rs180177446

ClinVar genetic disease variations for Cinca Syndrome:

6
(show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
2 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh38 Chromosome 1, 247425167: 247425167
3 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
4 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
5 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677
6 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh38 Chromosome 1, 247424375: 247424375
7 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh38 Chromosome 1, 247424192: 247424192
8 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh37 Chromosome 1, 247587494: 247587494
9 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
10 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
11 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh38 Chromosome 1, 247444069: 247444069
12 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh37 Chromosome 1, 247607371: 247607371
13 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh37 Chromosome 1, 247607973: 247607973
14 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh38 Chromosome 1, 247444671: 247444671
15 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
16 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh37 Chromosome 1, 247582310: 247582310
17 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh37 Chromosome 1, 247587408: 247587408
18 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh38 Chromosome 1, 247424106: 247424106
19 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh37 Chromosome 1, 247588053: 247588053
20 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh38 Chromosome 1, 247424751: 247424751
21 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Benign rs35829419 GRCh37 Chromosome 1, 247588858: 247588858
22 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Benign rs35829419 GRCh38 Chromosome 1, 247425556: 247425556
23 NLRP3 NM_004895.4(NLRP3): c.-704C> T single nucleotide variant Likely benign rs199723383 GRCh38 Chromosome 1, 247418091: 247418091
24 NLRP3 NM_004895.4(NLRP3): c.-704C> T single nucleotide variant Likely benign rs199723383 GRCh37 Chromosome 1, 247581393: 247581393
25 NLRP3 NM_004895.4(NLRP3): c.-623C> T single nucleotide variant Uncertain significance rs200090360 GRCh37 Chromosome 1, 247581474: 247581474
26 NLRP3 NM_004895.4(NLRP3): c.-623C> T single nucleotide variant Uncertain significance rs200090360 GRCh38 Chromosome 1, 247418172: 247418172
27 NLRP3 NM_004895.4(NLRP3): c.-62C> T single nucleotide variant Uncertain significance rs201758466 GRCh38 Chromosome 1, 247418733: 247418733
28 NLRP3 NM_004895.4(NLRP3): c.-62C> T single nucleotide variant Uncertain significance rs201758466 GRCh37 Chromosome 1, 247582035: 247582035
29 NLRP3 NM_004895.4(NLRP3): c.-34G> T single nucleotide variant Benign rs73136263 GRCh38 Chromosome 1, 247418761: 247418761
30 NLRP3 NM_004895.4(NLRP3): c.-34G> T single nucleotide variant Benign rs73136263 GRCh37 Chromosome 1, 247582063: 247582063
31 NLRP3 NM_004895.4(NLRP3): c.1251C> T (p.Ile417=) single nucleotide variant Likely benign rs139852370 GRCh38 Chromosome 1, 247424694: 247424694
32 NLRP3 NM_004895.4(NLRP3): c.1251C> T (p.Ile417=) single nucleotide variant Likely benign rs139852370 GRCh37 Chromosome 1, 247587996: 247587996
33 NLRP3 NM_004895.4(NLRP3): c.2220C> T (p.Ser740=) single nucleotide variant Likely benign rs183128734 GRCh38 Chromosome 1, 247429648: 247429648
34 NLRP3 NM_004895.4(NLRP3): c.2220C> T (p.Ser740=) single nucleotide variant Likely benign rs183128734 GRCh37 Chromosome 1, 247592950: 247592950
35 NLRP3 NM_004895.4(NLRP3): c.2307C> G (p.Gly769=) single nucleotide variant Likely benign rs150229101 GRCh38 Chromosome 1, 247429735: 247429735
36 NLRP3 NM_004895.4(NLRP3): c.2307C> G (p.Gly769=) single nucleotide variant Likely benign rs150229101 GRCh37 Chromosome 1, 247593037: 247593037
37 NLRP3 NM_004895.4(NLRP3): c.2430C> T (p.Leu810=) single nucleotide variant Likely benign rs147154764 GRCh38 Chromosome 1, 247434205: 247434205
38 NLRP3 NM_004895.4(NLRP3): c.2430C> T (p.Leu810=) single nucleotide variant Likely benign rs147154764 GRCh37 Chromosome 1, 247597507: 247597507
39 NLRP3 NM_004895.4(NLRP3): c.*230G> C single nucleotide variant Benign rs10754558 GRCh38 Chromosome 1, 247448734: 247448734
40 NLRP3 NM_004895.4(NLRP3): c.*230G> C single nucleotide variant Benign rs10754558 GRCh37 Chromosome 1, 247612036: 247612036
41 NLRP3 NM_004895.4(NLRP3): c.-527C> G single nucleotide variant Uncertain significance rs141994679 GRCh37 Chromosome 1, 247581570: 247581570
42 NLRP3 NM_004895.4(NLRP3): c.-527C> G single nucleotide variant Uncertain significance rs141994679 GRCh38 Chromosome 1, 247418268: 247418268
43 NLRP3 NM_004895.4(NLRP3): c.-527C> T single nucleotide variant Likely benign rs141994679 GRCh37 Chromosome 1, 247581570: 247581570
44 NLRP3 NM_004895.4(NLRP3): c.-527C> T single nucleotide variant Likely benign rs141994679 GRCh38 Chromosome 1, 247418268: 247418268
45 NLRP3 NM_004895.4(NLRP3): c.-405T> C single nucleotide variant Benign rs7523422 GRCh37 Chromosome 1, 247581692: 247581692
46 NLRP3 NM_004895.4(NLRP3): c.-405T> C single nucleotide variant Benign rs7523422 GRCh38 Chromosome 1, 247418390: 247418390
47 NLRP3 NM_004895.4(NLRP3): c.-197G> A single nucleotide variant Uncertain significance rs1042817230 GRCh37 Chromosome 1, 247581900: 247581900
48 NLRP3 NM_004895.4(NLRP3): c.-197G> A single nucleotide variant Uncertain significance rs1042817230 GRCh38 Chromosome 1, 247418598: 247418598
49 NLRP3 NM_004895.4(NLRP3): c.-68G> A single nucleotide variant Uncertain significance rs202076321 GRCh37 Chromosome 1, 247582029: 247582029
50 NLRP3 NM_004895.4(NLRP3): c.-68G> A single nucleotide variant Uncertain significance rs202076321 GRCh38 Chromosome 1, 247418727: 247418727

Expression for Cinca Syndrome

Search GEO for disease gene expression data for Cinca Syndrome.

Pathways for Cinca Syndrome

Pathways related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
2
Show member pathways
12.7 CASP1 IL1B MEFV NLRC4 NLRP3 PYCARD
3
Show member pathways
12.54 CASP1 IL1B NLRP3 PYCARD
4
Show member pathways
12.27 CASP1 IL1B IL1R1
5
Show member pathways
12.09 CASP1 IL1B IL1R1 IL1RN
6
Show member pathways
12 IL1B IL1R1 IL1RN
7
Show member pathways
12 CASP1 IL1B NLRP3 PYCARD
8
Show member pathways
11.97 CASP1 IL1B NLRP3 PYCARD
9 11.83 CASP1 NLRC4 PYCARD
10 11.56 CASP1 IL1B NLRC4 PYCARD
11 11.44 CASP1 IL1B NLRP3 PYCARD
12
Show member pathways
11.41 CASP1 MEFV NLRC4 NLRP3 PYCARD
13 11.36 IL1B IL1R1 IL1RN
14
Show member pathways
11.22 IL1B IL1R1
15 11.2 CASP1 IL1B NLRC4 PYCARD
16 10.98 IL1B IL1R1 NLRP3
17 10.91 CASP1 IL1B
18 10.71 CASP1 IL1B MEFV NLRC4 NLRP3 PYCARD
19 10.36 CASP1 IL1B

GO Terms for Cinca Syndrome

Cellular components related to Cinca Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 CASP1 IL1B IL1RN MEFV MVK NLRC4
2 extracellular region GO:0005576 9.8 CASP1 IL1B IL1R1 IL1RN NLRP3 PYCARD
3 AIM2 inflammasome complex GO:0097169 9.26 CASP1 PYCARD
4 IPAF inflammasome complex GO:0072557 9.16 CASP1 NLRC4
5 NLRP1 inflammasome complex GO:0072558 8.96 CASP1 PYCARD
6 NLRP3 inflammasome complex GO:0072559 8.8 CASP1 NLRP3 PYCARD

Biological processes related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.88 MEFV NLRC4 NLRP3 PYCARD
2 innate immune response GO:0045087 9.87 MEFV NLRC4 NLRP3 PYCARD
3 apoptotic process GO:0006915 9.83 CASP1 IL1B NLRC4 NLRP3 PYCARD
4 regulation of apoptotic process GO:0042981 9.81 CASP1 NLRC4 PYCARD
5 cytokine-mediated signaling pathway GO:0019221 9.76 CASP1 IL1B IL1R1 IL1RN
6 cellular response to lipopolysaccharide GO:0071222 9.72 CASP1 NLRP3 PYCARD
7 negative regulation of inflammatory response GO:0050728 9.7 MEFV MVK NLRP3
8 interleukin-1-mediated signaling pathway GO:0070498 9.69 IL1B IL1R1 IL1RN
9 regulation of inflammatory response GO:0050727 9.65 CASP1 IL1R1 NLRP3
10 positive regulation of interleukin-6 production GO:0032755 9.63 IL1B PYCARD
11 positive regulation of interferon-gamma production GO:0032729 9.62 IL1B PYCARD
12 cellular response to organic substance GO:0071310 9.62 CASP1 IL1B
13 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.62 IL1B NLRC4 NLRP3 PYCARD
14 positive regulation of phagocytosis GO:0050766 9.61 IL1B PYCARD
15 response to bacterium GO:0009617 9.61 CASP1 NLRP3
16 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.6 IL1B NLRP3
17 positive regulation of interleukin-6 secretion GO:2000778 9.59 IL1B PYCARD
18 activation of innate immune response GO:0002218 9.58 NLRC4 PYCARD
19 response to ATP GO:0033198 9.56 CASP1 IL1B
20 pyroptosis GO:0070269 9.54 CASP1 NLRC4
21 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.54 CASP1 NLRP3 PYCARD
22 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.49 MEFV PYCARD
23 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.46 CASP1 NLRC4 NLRP3 PYCARD
24 positive regulation of interleukin-1 beta secretion GO:0050718 9.43 CASP1 NLRP3 PYCARD
25 inflammatory response GO:0006954 9.43 IL1B IL1RN MEFV NLRC4 NLRP3 PYCARD
26 fever generation GO:0001660 9.4 IL1B IL1RN
27 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

Molecular functions related to Cinca Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 9.26 IL1B IL1RN
2 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.16 CASP1 PYCARD
3 identical protein binding GO:0042802 9.1 CASP1 MEFV MVK NLRC4 NLRP3 PYCARD
4 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.96 CASP1 PYCARD

Sources for Cinca Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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