CRMO
MCID: CHR288
MIFTS: 60

Chronic Recurrent Multifocal Osteomyelitis (CRMO)

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chronic Recurrent Multifocal Osteomyelitis

MalaCards integrated aliases for Chronic Recurrent Multifocal Osteomyelitis:

Name: Chronic Recurrent Multifocal Osteomyelitis 56 12 74 52 36 43 15
Chronic Multifocal Osteomyelitis 12 52 71 32
Crmo 56 12 52
Chronic Nonbacterial Osteomyelitis/chronic Recurrent Multifocal Osteomyelitis 52 58
Cno/crmo 52 58
Cmo 56 52
Osteomyelitis, Chronic Multifocal; Cmo 56
Osteomyelitis, Chronic Multifocal 56
Multifocal Osteomyelitis, Chronic 52
Chronic Osteomyelitis 15

Characteristics:

Orphanet epidemiological data:

58
chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/100000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
chronic recurrent multifocal osteomyelitis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Chronic Recurrent Multifocal Osteomyelitis

NIH Rare Diseases : 52 Chronic recurrent multifocal osteomyelitis (CRMO) is an inflammatory bone condition. Signs and symtpoms include recurrent episodes of pain and joint swelling, with or without fever. Symptoms typically begin in childhood. CRMO may occur alone, with psoriasis or inflammatory bowel disease , or as part of the syndromes , Majeed syndrome or DIRA . For most children, CRMO resolves after many years without lasting effects. However, CRMO can cause slow growth and permanent bone deformity.

MalaCards based summary : Chronic Recurrent Multifocal Osteomyelitis, also known as chronic multifocal osteomyelitis, is related to sapho syndrome and pustulosis of palm and sole. An important gene associated with Chronic Recurrent Multifocal Osteomyelitis is LPIN2 (Lipin 2), and among its related pathways/superpathways are Glycerolipid metabolism and Glycerophospholipid metabolism. The drugs Peginterferon alfa-2a and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, neutrophil and skin, and related phenotypes are osteomyelitis and bone pain

Disease Ontology : 12 An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.

KEGG : 36 Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. It has been reported that mutations in LPIN2 are responsible for this syndrome.

Wikipedia : 74 Chronic recurrent multifocal osteomyelitis (CRMO) ("multifocal" because it can erupt in different sites,... more...

More information from OMIM: 259680

Related Diseases for Chronic Recurrent Multifocal Osteomyelitis

Diseases related to Chronic Recurrent Multifocal Osteomyelitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 598)
# Related Disease Score Top Affiliating Genes
1 sapho syndrome 31.1 PSTPIP2 PSTPIP1 LPIN2 IL1RN
2 pustulosis of palm and sole 30.7 TNF PSTPIP2 LPIN2 IL1RN
3 chikungunya 29.9 TNF IL6 IL1B
4 crohn's disease 29.9 TNF NLRP3 IL6 IL1B CRP
5 neurofibromatosis, type ii 29.8 TNF PSTPIP1 MEFV IL6 IL1RN
6 ulcerative colitis 29.8 TNF IL6 IL1RN IL1B CRP
7 iridocyclitis 29.8 TNF IL6 CRP
8 cellulitis 29.8 TNF IL6 CRP
9 pyoderma gangrenosum 29.8 TNF PSTPIP1 NLRP3 MEFV IL1RN
10 vasculitis 29.8 TNF MEFV IL6 CRP
11 periostitis 29.7 PSTPIP1 LPIN2 IL1RN HECTD4 CRP
12 necrotizing fasciitis 29.7 IL6 IL1RN CRP
13 enthesopathy 29.7 TNF MEFV HECTD4 CRP
14 plasmodium falciparum malaria 29.6 TNF IL6 CRP
15 pyoderma 29.6 TNF PSTPIP1 NLRP3 MEFV IL1RN CRP
16 sleep disorder 29.5 TNF IL6 CRP
17 q fever 29.5 TNF IL6 IL1B
18 takayasu arteritis 29.5 TNF IL6 IL1RN CRP
19 lung abscess 29.4 TNF IL6 CRP
20 synovitis 29.4 TNFSF11 TNF IL6 IL1RN IL1B CRP
21 autoimmune disease 29.4 TNF IL6 IL1RN IL1B CRP
22 diverticulitis 29.4 TNF IL6 CRP
23 osteomalacia 29.4 TNFSF11 BGLAP ALPL
24 spondyloarthropathy 29.4 TNFSF11 TNF IL6 IL1B
25 chronic ulcer of skin 29.3 TNF IL6 HECTD4 CRP
26 typhoid fever 29.3 TNF IL6 IL1B CRP CASP1
27 fasciitis 29.3 TNF IL6 IL1RN HECTD4
28 bacterial pneumonia 29.3 TNF IL6 CRP
29 spondylitis 29.3 TNFSF11 TNF IL6 IL1RN CRP
30 osteomyelitis 29.3 TNFSF11 TNF PYCARD NLRP3 LPIN2 IL6
31 osteonecrosis 29.2 TNFSF11 TNF BGLAP
32 fibromyalgia 29.2 TNF IL6 IL1B CRP
33 otitis media 29.2 TNF IL6 IL1B CRP
34 skin disease 29.2 TNF IL6 CRP CCL27 CASP1
35 tetanus 29.2 TNF IL6 IL1B CRP
36 leprosy 3 29.2 TNF IL6 IL1B HECTD4
37 ankylosis 29.1 TNF CRP BGLAP
38 leishmaniasis 29.1 TNF IL6 IL1B CRP
39 eye disease 29.1 TNF IL6 IL1RN IL1B CRP
40 decubitus ulcer 29.1 TNF IL6 HECTD4 CRP
41 compartment syndrome 29.1 TNF IL6 HECTD4 CRP
42 bacterial infectious disease 29.0 TNF IL6 IL1RN IL1B CRP CASP1
43 migraine with or without aura 1 29.0 TNF IL6 IL1B CRP
44 pulmonary disease, chronic obstructive 29.0 TNF IL6 IL1B CRP
45 acute pancreatitis 29.0 TNF IL6 IL1B CRP CASP1
46 periapical periodontitis 29.0 TNFSF11 TNF IL6 IL1B
47 salmonellosis 28.9 TNF NLRP3 IL6 IL1B CASP1
48 toxic shock syndrome 28.9 TNF IL6 IL1RN IL1B CRP
49 peripheral nervous system disease 28.8 TNF IL6 IL1B HECTD4 CRP
50 exanthem 28.8 TNF NLRP3 MEFV IL6 IL1RN CRP

Graphical network of the top 20 diseases related to Chronic Recurrent Multifocal Osteomyelitis:



Diseases related to Chronic Recurrent Multifocal Osteomyelitis

Symptoms & Phenotypes for Chronic Recurrent Multifocal Osteomyelitis

Human phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteomyelitis 58 31 very rare (1%) Very frequent (99-80%) HP:0002754
2 bone pain 58 31 very rare (1%) Very frequent (99-80%) HP:0002653
3 hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100774
4 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
5 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
6 abnormal vertebral morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003468
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
9 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
10 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
11 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
12 elevated c-reactive protein level 58 31 frequent (33%) Frequent (79-30%) HP:0011227
13 elevated erythrocyte sedimentation rate 58 31 very rare (1%) Frequent (79-30%) HP:0003565
14 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
15 craniofacial osteosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005464
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 fever 58 31 very rare (1%) Occasional (29-5%) HP:0001945
18 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
19 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
20 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
21 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
22 psoriasiform dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003765
23 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
24 inflammation of the large intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002037
25 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
26 abnormality of the sacroiliac joint 58 31 occasional (7.5%) Occasional (29-5%) HP:0100781
27 palmoplantar pustulosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100847

Symptoms via clinical synopsis from OMIM:

56
Skel:
chronic recurrent multifocal osteomyelitis
long bone metaphyses predominantly involved

Lab:
no pathogens isolated from affected areas
subacute and chronic inflammatory histologic features

Clinical features from OMIM:

259680

MGI Mouse Phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 ALPL CASP1 FBLIM1 IL1B IL1RN IL6
2 homeostasis/metabolism MP:0005376 10.17 ALPL CASP1 CPT1B CRP IL1B IL1RN
3 immune system MP:0005387 10.13 ALPL CASP1 CRP FBLIM1 IL1B IL1RN
4 integument MP:0010771 9.81 CASP1 IL1B IL1RN IL6 MEFV NLRP3
5 reproductive system MP:0005389 9.65 ALPL CASP1 IL1RN IL6 LPIN2 MEFV
6 skeleton MP:0005390 9.36 ALPL FBLIM1 IL1B IL1RN IL6 LPIN2

Drugs & Therapeutics for Chronic Recurrent Multifocal Osteomyelitis

Drugs for Chronic Recurrent Multifocal Osteomyelitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
2 Anti-Infective Agents Phase 2, Phase 3
3 Antiviral Agents Phase 2, Phase 3
4 Interferon-alpha Phase 2, Phase 3
5 Immunologic Factors Phase 2, Phase 3
6 interferons Phase 2, Phase 3
7
Pamidronate Approved Phase 2 40391-99-9 4674
8
Cefepime Approved, Investigational Phase 2 88040-23-7 5479537
9
Piperacillin Approved Phase 2 66258-76-2 43672
10
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
11
leucovorin Approved Phase 2 58-05-9 6006 143
12
Meropenem Approved, Investigational Phase 2 96036-03-2, 119478-56-7 64778 441130
13
Linezolid Approved, Investigational Phase 2 165800-03-3 441401
14
Metronidazole Approved Phase 2 443-48-1 4173
15
Moxifloxacin Approved, Investigational Phase 2 151096-09-2, 354812-41-2 152946
16
Tazobactam Approved Phase 2 89786-04-9 123630
17
Daptomycin Approved, Investigational Phase 2 103060-53-3 16129629
18
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
19
Clindamycin Approved, Vet_approved Phase 2 18323-44-9 29029
20
Sulfamethoxazole Approved Phase 2 723-46-6 5329
21
Aztreonam Approved Phase 2 78110-38-0 5362041 5742832
22
Vancomycin Approved Phase 2 1404-90-6 441141 14969
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24 Pharmaceutical Solutions Phase 2
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Piperacillin, Tazobactam Drug Combination Phase 2
28 Antitubercular Agents Phase 2
29 Renal Agents Phase 2
30 Cytochrome P-450 Enzyme Inhibitors Phase 2
31 Folic Acid Antagonists Phase 2
32 Norgestimate, ethinyl estradiol drug combination Phase 2
33 Antiparasitic Agents Phase 2
34 Vitamin B Complex Phase 2
35 Antiprotozoal Agents Phase 2
36 Topoisomerase Inhibitors Phase 2
37 Vitamin B9 Phase 2
38 Antimalarials Phase 2
39 Clindamycin phosphate Phase 2
40 Anti-Infective Agents, Urinary Phase 2
41 Folate Phase 2
42 beta-Lactamase Inhibitors Phase 2
43 Clindamycin palmitate Phase 2
44 Cytochrome P-450 CYP1A2 Inhibitors Phase 2
45 Trimethoprim, Sulfamethoxazole Drug Combination Phase 2
46 sodium fluoride Approved 7681-49-4
47
carbamide peroxide Approved 124-43-6
48 Fluorides
49 Listerine

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Randomised Control Study for Inactive Chronic Hepatitis B Patients With Low Viral Load, With Peg-Interferon (INACTIVE) Active, not recruiting NCT02992704 Phase 2, Phase 3 Peginterferon Alfa-2A
2 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
3 The Use of Antimicrobial Synthetic Bone Grafts in the Treatment of Bone Infection Recruiting NCT03945864 Phase 1, Phase 2
4 Transcranial Direct Current Stimulation Associated With Peripheral Electrical Stimulation for Pain Control in Individuals With Sickle Cell Disease Recruiting NCT02813629 Phase 2
5 Efficacy of Oral Antibiotic Therapy Compared to Intravenous Antibiotic Therapy for the Treatment of Diabetic Foot Osteomyelitis (CRO-OSTEOMYELITIS) Terminated NCT02168816 Phase 2 Intravenous Antibacterial Agent;Oral Antibacterial Agent
6 Sensitivity, Specificity and Predictive Value of High Resolution (B-Mode) Ultrasonography (HRUS) for the Detection of Osteomyelitis in Chronic Wound Patients Unknown status NCT02198755
7 Osteomyelitis: Procalcitonin to Diagnose and Monitor Osteomyelitis Completed NCT02308774
8 Inflammatory Biomarkers to Diagnose and Monitor Diabetic Foot Osteomyelitis Completed NCT04025853
9 Chronic Recurrent Multifocal Osteomyelitis - Search for a Bacterial Cause and Improving Imaging With PET/MRI Recruiting NCT03433287
10 Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis Recruiting NCT00059748
11 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
12 Consitution Of A Biological Collection From Samples From The Gut Microbiote In Patients Having A Bone Or Joint Infection Treated By A Suppressive Subcutaneous Antibiotherapy With Betalactamine Recruiting NCT03611634
13 Constitution Of A Biological Collection From Samples From The Gut Microbiota In Patients Having A Bone Or Joint Infection Treated By A Suppressive Subcutaneous Antibiotherapy With Betalactamine (CARBAMICROBIOTA) Not yet recruiting NCT03550911
14 The Effect of Fungal Infection on the Outcome Among Diabetic Patients With Foot Osteomyelitis Not yet recruiting NCT04041739

Search NIH Clinical Center for Chronic Recurrent Multifocal Osteomyelitis

Cochrane evidence based reviews: chronic recurrent multifocal osteomyelitis

Genetic Tests for Chronic Recurrent Multifocal Osteomyelitis

Anatomical Context for Chronic Recurrent Multifocal Osteomyelitis

MalaCards organs/tissues related to Chronic Recurrent Multifocal Osteomyelitis:

40
Bone, Neutrophil, Skin, Heart, Lung, T Cells, B Cells

Publications for Chronic Recurrent Multifocal Osteomyelitis

Articles related to Chronic Recurrent Multifocal Osteomyelitis:

(show top 50) (show all 463)
# Title Authors PMID Year
1
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. 61 56
16122996 2006
2
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. 61 56
11973628 2002
3
Chronic multifocal osteomyelitis, a new recessive mutation on chromosome 18 of the mouse. 61 56
1686018 1991
4
[Subacute and chronic "symmetrical" osteomyelitis]. 56
4403064 1972
5
Fluorodeoxyglucose PET/CT of Arthritis in Rheumatic Diseases: A Pictorial Review. 61
31917663 2020
6
Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG). 61
31741047 2020
7
Imaging mimics of chronic recurrent multifocal osteomyelitis: avoiding pitfalls in a diagnosis of exclusion. 61
31901992 2020
8
Various Anderson-type polyoxometalate-based metal-organic complexes induced by diverse solvents: assembly, structures and selective adsorption for organic dyes. 61
31904036 2020
9
Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins. 61
31873763 2019
10
Treatment of chronic recurrent multifocal osteomyelitis with bisphosphonates in children. 61
31216487 2019
11
Chronic recurrent multifocal osteomyelitis in pediatrics: A diagnostic challenge. 61
29776891 2019
12
The nonreceptor tyrosine kinase SYK induces autoinflammatory osteomyelitis in a mouse model of chronic recurrent multifocal osteomyelitis. 61
31719149 2019
13
Vaccination coverage in children with rheumatic diseases. 61
31577215 2019
14
Radiological diagnosis of chronic recurrent multifocal osteomyelitis using whole-body MRI-based lesion distribution patterns. 61
31280883 2019
15
Commentary on: radiological diagnosis of chronic recurrent multifocal osteomyelitis using whole-body MRI-based lesion distribution patterns. 61
31272598 2019
16
A complicated path to the CRMO diagnosis - case of a 9 year old girl whose story comes full circle. 61
31470834 2019
17
Mast cells enhance sterile inflammation in chronic nonbacterial osteomyelitis. 61
31416928 2019
18
Characteristic Radiographic Appearance of Chronic Recurrent Multifocal Osteomyelitis. 61
30363000 2019
19
Chronic non-bacterial osteomyelitis: a comparative study between children and adults. 61
31337412 2019
20
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans. 61
31138708 2019
21
Chronic Non-bacterial Osteomyelitis: A Review. 61
30456556 2019
22
Chronic Recurrent Multifocal Osteomyelitis of the Hand: A Rare Pediatric Condition. 61
31137982 2019
23
New-Onset Chronic Recurrent Multifocal Osteomyelitis in a Child With Chronic Uveitis. 61
31034088 2019
24
Chronic non-bacterial osteomyelitis in the jaw. 61
31106134 2019
25
When Local Bone Pain Is Just the Tip of the Iceberg-A Case Report of Three Patients With Chronic Multifocal Recurrent Osteomyelitis and Some Red Flags to Help Make the Diagnosis. 61
31681708 2019
26
Unusual Manifestation of Ulcerative Colitis. 61
30838150 2019
27
Defining consensus opinion to develop randomised controlled trials in rare diseases using Bayesian design: An example of a proposed trial of adalimumab versus pamidronate for children with CNO/CRMO. 61
31166977 2019
28
Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship? 61
31049240 2019
29
A Case Report of Takayasu's Arteritis and Ulcerative Colitis in a Pediatric Patient with Chronic Recurrent Multifocal Osteomyelitis Successfully Treated with Infliximab: Diagnostic Clues in Disease Associations and Immune Dysregulation. 61
31285932 2019
30
Juvenile spondyloarthritis and chronic recurrent multifocal osteomyelitis overlap syndrome in a 16-year-old adolescent. A case report and literature review. 61
31355588 2019
31
SAPHO syndrome with enthesopathy. 61
30617190 2019
32
The Dilemma of Chronic Recurrent Multifocal Osteomyelitis. 61
30616941 2019
33
Chronic recurrent multifocal osteomyelitis: a case report. 61
31949420 2019
34
Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. 61
31559735 2019
35
Diagnostic and therapeutic difficulties in a patient with chronic recurrent multifocal osteomyelitis coexisting with ulcerative colitis. 61
31130750 2019
36
Evolution of chronic recurrent multifocal osteomyelitis in a child shown by MRI. 61
30364530 2019
37
Clinical and Diagnostic Considerations for Atypical, Adult Onset Presentation of Chronic Recurrent Multifocal Osteomyelitis (CRMO). 61
31662939 2019
38
Retinal vasculitis with Chronic Recurrent Multifocal Osteomyelitis: a case report and review of the literature. 61
31388650 2019
39
Chronic recurrent multifocal osteomyelitis-case report of two patients and review of literature. 61
31031824 2019
40
Chronic recurrent multifocal osteomyelitis in children: a single center experience over five years. 61
31916716 2019
41
FBLIM1 enhances oral cancer malignancy via modulation of the epidermal growth factor receptor pathway. 61
30129678 2018
42
Think about the 'C' (in custard and crackers). 61
29122830 2018
43
Recurrent multifocal osteomyelitis in children: Experience in a tertiary care center. 61
28528870 2018
44
Chronic Recurrent Multifocal Osteomyelitis - A Case Series from India. 61
30532310 2018
45
Concurrent chronic recurrent multifocal osteomyelitis and familial Mediterranean fever. A case report. 61
30582505 2018
46
[Chronic recurrent multifocal osteomyelitis: pediatric clinical case]. 61
30204998 2018
47
Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease? 61
30390722 2018
48
Chronic recurrent multifocal osteomyelitis with psoriatic skin manifestations in a 12-year-old female. 61
30479859 2018
49
Chronic Recurrent Multifocal Osteomyelitis in Crohn Disease: Complete Resolution With Anti-TNFα Therapy. 61
27050047 2018
50
Update on the genetics of nonbacterial osteomyelitis in humans. 61
29912021 2018

Variations for Chronic Recurrent Multifocal Osteomyelitis

ClinVar genetic disease variations for Chronic Recurrent Multifocal Osteomyelitis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACYP2 NM_001320586.2(ACYP2):c.405-55959C>ASNV association 375478 rs11125529 2:54475866-54475866 2:54248729-54248729
2 MYNN NM_018657.5(MYNN):c.18C>T (p.His6=)SNV association 375477 rs10936599 3:169492101-169492101 3:169774313-169774313
3 NC_000004.11:g.164007820A>GSNV association 375483 rs7675998 4:164007820-164007820 4:163086668-163086668
4 TERT NM_198253.2(TERT):c.1574-3777G>TSNV association 375480 rs2736100 5:1286516-1286516 5:1286401-1286401
5 TERT NM_198253.2(TERT):c.-1382T>CSNV association 375479 rs2735940 5:1296486-1296486 5:1296371-1296371
6 NC_000014.8:g.56525569G>ASNV association 375481 rs398652 14:56525569-56525569 14:56058851-56058851
7 ZBTB46 NM_025224.4(ZBTB46):c.489T>C (p.Ala163=)SNV association 375482 rs755017 20:62421622-62421622 20:63790269-63790269
8 TERT NM_198253.2(TERT):c.1951-205G>ASNV Benign 225783 rs10069690 5:1279790-1279790 5:1279675-1279675

Expression for Chronic Recurrent Multifocal Osteomyelitis

Search GEO for disease gene expression data for Chronic Recurrent Multifocal Osteomyelitis.

Pathways for Chronic Recurrent Multifocal Osteomyelitis

Pathways related to Chronic Recurrent Multifocal Osteomyelitis according to KEGG:

36
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 Glycerophospholipid metabolism hsa00564

Pathways related to Chronic Recurrent Multifocal Osteomyelitis according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 TNF PYCARD NLRP3 IL6 IL1B CASP1
2
Show member pathways
12.77 TNF PYCARD NLRP3 IL6 IL1B CASP1
3
Show member pathways
12.71 TNF PYCARD IL6 IL1B CASP1
4 12.34 TNF PYCARD NLRP3 IL1B CASP1
5
Show member pathways
12.28 TNF IL6 IL1B CRP
6 12.22 TNF PYCARD NLRP3 IL6 IL1B CASP1
7
Show member pathways
12.17 TNF IL6 IL1RN IL1B
8 12.13 TNF IL6 IL1RN IL1B
9
Show member pathways
12.13 TNF PYCARD NLRP3 IL1B CASP1
10
Show member pathways
12.12 TNF PYCARD NLRP3 IL6 IL1B CASP1
11
Show member pathways
11.92 PYCARD PSTPIP1 NLRP3 MEFV CASP1
12 11.83 TNFSF11 TNF IL6 IL1B
13
Show member pathways
11.77 TNFSF11 IL6 CRP
14 11.73 PYCARD IL6 IL1B CASP1
15 11.7 TNF IL6 IL1B
16 11.66 TNF IL6 IL1RN IL1B
17
Show member pathways
11.62 TNF IL6 IL1B
18 11.61 TNF IL6 IL1B
19 11.58 TNF PYCARD NLRP3 MEFV IL6 IL1B
20 11.52 TNF PYCARD IL6 IL1B CASP1
21 11.51 TNF PYCARD NLRP3 IL6 IL1B CASP1
22 11.5 TNF IL6 IL1B
23 11.48 TNF PYCARD PSTPIP1 NLRP3 MEFV IL6
24 11.47 TNF IL6 IL1RN IL1B
25 11.37 TNFSF11 TNF IL6 IL1B BGLAP
26 11.36 TNF IL6 IL1B
27 11.33 TNF IL6 IL1B
28 11.28 TNF IL6 IL1B
29 11.27 PYCARD NLRP3 MEFV IL1B CASP1
30 11.26 TNF IL6 IL1B
31 11.21 TNF IL6 IL1B
32 11.07 TNF IL1B CASP1
33 10.99 TNF IL6 CRP
34 10.48 IL1B CASP1

GO Terms for Chronic Recurrent Multifocal Osteomyelitis

Cellular components related to Chronic Recurrent Multifocal Osteomyelitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 TNFSF11 TNF IL6 IL1RN IL1B CRP
2 extracellular region GO:0005576 9.7 TNFSF11 TNF PYCARD NLRP3 IL6 IL1RN
3 AIM2 inflammasome complex GO:0097169 9.32 PYCARD CASP1
4 NLRP1 inflammasome complex GO:0072558 9.26 PYCARD CASP1
5 NLRP3 inflammasome complex GO:0072559 8.8 PYCARD NLRP3 CASP1

Biological processes related to Chronic Recurrent Multifocal Osteomyelitis according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.07 TNFSF11 TNF IL6 IL1RN IL1B CCL27
2 positive regulation of gene expression GO:0010628 10.06 TNFSF11 TNF IL6 IL1B CRP
3 cytokine-mediated signaling pathway GO:0019221 9.95 TNFSF11 TNF IL6 IL1RN IL1B CASP1
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.93 TNFSF11 TNF IL1RN IL1B CASP1
5 defense response to Gram-positive bacterium GO:0050830 9.88 TNF NLRP3 IL6 CRP
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.87 TNF PYCARD NLRP3 CASP1
7 regulation of inflammatory response GO:0050727 9.86 TNF PYCARD NLRP3 CASP1
8 cellular response to organic cyclic compound GO:0071407 9.83 TNF IL1B ALPL
9 positive regulation of DNA-binding transcription factor activity GO:0051091 9.83 TNFSF11 TNF PYCARD IL6 IL1B
10 positive regulation of phagocytosis GO:0050766 9.8 TNF PYCARD IL1B
11 positive regulation of interferon-gamma production GO:0032729 9.8 TNF PYCARD IL1B
12 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.8 TNF PYCARD NLRP3 CASP1
13 positive regulation of interleukin-6 secretion GO:2000778 9.79 TNF PYCARD IL1B
14 positive regulation of interleukin-1 beta secretion GO:0050718 9.78 PYCARD NLRP3 CASP1
15 positive regulation of JNK cascade GO:0046330 9.77 TNFSF11 TNF PYCARD IL1RN IL1B
16 negative regulation of neurogenesis GO:0050768 9.76 TNF IL6 IL1B
17 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 TNFSF11 TNF PYCARD NLRP3 IL6 IL1B
18 positive regulation of glial cell proliferation GO:0060252 9.72 TNF IL6 IL1B
19 response to glucocorticoid GO:0051384 9.72 TNF IL6 IL1RN BGLAP ALPL
20 regulation of osteoclast differentiation GO:0045670 9.7 TNFSF11 TNF BGLAP
21 positive regulation of neuroinflammatory response GO:0150078 9.69 TNF IL6 IL1B
22 positive regulation of chemokine secretion GO:0090197 9.67 TNF PYCARD
23 positive regulation of chemokine biosynthetic process GO:0045080 9.67 TNF IL1B
24 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.66 PYCARD MEFV
25 positive regulation of T-helper 2 cell cytokine production GO:2000553 9.65 NLRP3 IL6
26 regulation of establishment of endothelial barrier GO:1903140 9.65 TNF IL1B
27 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.64 IL6 IL1RN
28 positive regulation of mononuclear cell migration GO:0071677 9.64 TNF CCL27
29 positive regulation of fever generation GO:0031622 9.63 TNF IL1B
30 negative regulation of lipid storage GO:0010888 9.63 TNF IL6 CRP
31 sequestering of triglyceride GO:0030730 9.62 TNF IL1B
32 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.6 TNF IL1B
33 interleukin-1 beta production GO:0032611 9.58 PYCARD NLRP3 IL1B
34 positive regulation of interleukin-6 production GO:0032755 9.55 TNF PYCARD IL6 IL1RN IL1B
35 cellular response to lipopolysaccharide GO:0071222 9.5 TNF PYCARD NLRP3 IL6 IL1RN IL1B
36 inflammatory response GO:0006954 9.28 TNF PYCARD PSTPIP1 NLRP3 MEFV IL6

Molecular functions related to Chronic Recurrent Multifocal Osteomyelitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.56 TNFSF11 TNF PYCARD PSTPIP1 NLRP3 MEFV
2 interleukin-6 receptor binding GO:0005138 9.16 PYCARD IL6
3 cytokine activity GO:0005125 9.02 TNFSF11 TNF IL6 IL1RN IL1B

Sources for Chronic Recurrent Multifocal Osteomyelitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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