MCID: CHR288
MIFTS: 54

Chronic Recurrent Multifocal Osteomyelitis

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Chronic Recurrent Multifocal Osteomyelitis

MalaCards integrated aliases for Chronic Recurrent Multifocal Osteomyelitis:

Name: Chronic Recurrent Multifocal Osteomyelitis 57 12 76 53 37 15
Chronic Multifocal Osteomyelitis 12 53 73
Crmo 57 12 53
Chronic Nonbacterial Osteomyelitis/chronic Recurrent Multifocal Osteomyelitis 53 59
Cno/crmo 53 59
Cmo 57 53
Osteomyelitis, Chronic Multifocal; Cmo 57
Osteomyelitis, Chronic Multifocal 57
Multifocal Osteomyelitis, Chronic 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
? autosomal recessive


Classifications:



Summaries for Chronic Recurrent Multifocal Osteomyelitis

NIH Rare Diseases : 53 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 osteomyelitis and familial mediterranean fever. 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 drug Pamidronate has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are abnormality of epiphysis morphology and scoliosis

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.

Wikipedia : 76 Chronic recurrent multifocal osteomyelitis (CRMO) (\"multifocal\" because it can erupt in different... more...

Description 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 66)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.7 CASP1 FBLIM1 IL1B LPIN2
2 familial mediterranean fever 29.2 CASP1 IL1B NLRP3
3 majeed syndrome 12.4
4 corticosterone methyloxidase type i deficiency 11.9
5 corticosterone methyloxidase type ii deficiency 11.8
6 corticosterone methyloxidase deficiency 10.9
7 pyoderma 10.2
8 tinea favosa 10.2 CASP1 NLRP3
9 typhoid fever 10.2 CASP1 IL1B
10 vulvar vestibulitis syndrome 10.1 IL1B NLRP3
11 cervical adenitis 10.1 IL1B NLRP3
12 salmonellosis 10.1 CASP1 IL1B
13 schnitzler syndrome 10.1 IL1B NLRP3
14 arthritis 10.1
15 crohn's disease 10.1
16 lymphoma 10.1
17 calcinosis 10.1
18 pyoderma gangrenosum 10.1
19 blau syndrome 10.1 IL1B NLRP3
20 aseptic meningitis 10.1 IL1B NLRP3
21 wells syndrome 10.1 IL1B NLRP3
22 ulcerative colitis 10.0
23 colitis 10.0
24 sapho syndrome 10.0
25 psoriasis 10.0
26 aphthous stomatitis 10.0 IL1B NLRP3
27 chlamydia 10.0 CASP1 IL1B
28 inflammatory bowel disease 10.0
29 scoliosis 10.0
30 congenital dyserythropoietic anemia 10.0
31 silicosis 10.0 IL1B NLRP3
32 prostate cancer 9.9
33 prostatitis 9.9
34 enamel caries 9.9
35 pneumoconiosis 9.9 IL1B NLRP3
36 takayasu arteritis 9.8
37 lymphoma, hodgkin, classic 9.8
38 hypophosphatasia, childhood 9.8
39 osteoid osteoma 9.8
40 neutrophilic dermatosis, acute febrile 9.8
41 leukemia, acute lymphoblastic 9.8
42 b-cell lymphomas 9.8
43 chronic granulomatous disease 9.8
44 leukemia 9.8
45 selective igm deficiency disease 9.8
46 lymphoblastic leukemia 9.8
47 brucellosis 9.8
48 cat-scratch disease 9.8
49 tolosa-hunt syndrome 9.8
50 hypophosphatasia 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
4 abnormal vertebral morphology 59 32 frequent (33%) Frequent (79-30%) HP:0003468
5 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
6 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
7 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
8 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
9 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
10 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
11 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
12 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
13 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
14 inflammation of the large intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002037
15 osteomyelitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002754
16 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
17 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
18 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
19 hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100774
20 osteolysis 59 32 frequent (33%) Frequent (79-30%) HP:0002797
21 elevated c-reactive protein level 59 32 frequent (33%) Frequent (79-30%) HP:0011227
22 abnormality of the sacroiliac joint 59 32 occasional (7.5%) Occasional (29-5%) HP:0100781
23 elevated erythrocyte sedimentation rate 59 32 frequent (33%) Frequent (79-30%) HP:0003565
24 poor appetite 59 32 frequent (33%) Frequent (79-30%) HP:0004396
25 craniofacial osteosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0005464
26 psoriasiform dermatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003765
27 palmoplantar pustulosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100847
28 abnormality of metabolism/homeostasis 32 HP:0001939
29 chronic recurrent multifocal osteomyelitis 32 HP:0005901

GenomeRNAi Phenotypes related to Chronic Recurrent Multifocal Osteomyelitis 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 9.53 CASP1 IL1B NLRP3 PYCARD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 CASP1 IL1B NLRP3 PYCARD

MGI Mouse Phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 ALPL CASP1 FBLIM1 IL1B LPIN2 NLRP3
2 homeostasis/metabolism MP:0005376 9.5 LPIN2 NLRP3 PYCARD ALPL CASP1 CPT1B
3 immune system MP:0005387 9.17 ALPL CASP1 FBLIM1 IL1B LPIN2 NLRP3

Drugs & Therapeutics for Chronic Recurrent Multifocal Osteomyelitis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 2 40391-99-9 4674

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate Recruiting NCT02594878 Phase 2 Pamidronatdinatrium
2 Chronic Recurrent Multifocal Osteomyelitis - a Bacterial Cause? Recruiting NCT03433287 Not Applicable

Search NIH Clinical Center for 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:

41
Bone, Skin, Testes, Spinal Cord, Neutrophil, T Cells, B Cells

Publications for Chronic Recurrent Multifocal Osteomyelitis

Articles related to Chronic Recurrent Multifocal Osteomyelitis:

(show top 50) (show all 228)
# Title Authors Year
1
The role of whole-body magnetic resonance imaging in diagnosing chronic recurrent multifocal osteomyelitis. ( 29904495 )
2018
2
The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry. ( 29718410 )
2018
3
The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry. ( 29596638 )
2018
4
Biologic treatment for chronic recurrent multifocal osteomyelitis: report of four cases and review of the literature. ( 29127574 )
2018
5
Chronic recurrent multifocal osteomyelitis in pediatrics: A diagnostic challenge. ( 29776891 )
2018
6
Complete resolution and remodeling of chronic recurrent multifocal osteomyelitis on MRI and radiographs. ( 29124297 )
2018
7
Bone inflammation and chronic recurrent multifocal osteomyelitis. ( 29565497 )
2018
8
Chronic Recurrent Multifocal Osteomyelitis of the Mandible: A Diagnostic Challenge. ( 29652766 )
2018
9
Chronic recurrent multifocal osteomyelitis: a case report. ( 29454377 )
2018
10
An Update on the Pathogenesis and Treatment of Chronic Recurrent Multifocal Osteomyelitis in Children. ( 28401420 )
2017
11
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). ( 28301468 )
2017
12
Paediatric chronic recurrent multifocal osteomyelitis. ( 28280083 )
2017
13
Chronic Recurrent Multifocal Osteomyelitis: A Case Report with Atypical Presentation. ( 28630846 )
2017
14
Oral alendronate in pediatric chronic recurrent multifocal osteomyelitis. ( 28401741 )
2017
15
Chronic recurrent multifocal osteomyelitis exhibiting predominance of periosteal reaction. ( 28614530 )
2017
16
Chronic Recurrent Multifocal Osteomyelitis (CRMO): Presentation, Pathogenesis, and Treatment. ( 29080202 )
2017
17
Chronic Recurrent Multifocal Osteomyelitis in a 9-year-old Boy. ( 28656169 )
2017
18
Chronic recurrent multifocal osteomyelitis beginning with a solitary lesion of the ilium. ( 28587611 )
2017
19
Utility of Three-phase Skeletal Scintigraphy with Single Photon Emission Computed Tomography/Computed Tomography in a Case of Chronic Recurrent Multifocal Osteomyelitis. ( 28680224 )
2017
20
Chronic recurrent multifocal osteomyelitis: a case report. ( 29062831 )
2017
21
An Unusual Association of Chronic Recurrent Multifocal Osteomyelitis, Pyoderma Gangrenosum, and Takayasu Arteritis. ( 28042129 )
2017
22
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). ( 28686717 )
2017
23
Chronic recurrent multifocal osteomyelitis presenting with Tolosa-Hunt syndrome in a 13-year-old boy. ( 28598320 )
2017
24
Adult-onset Chronic Recurrent Multifocal Osteomyelitis with High Intensity of Muscles Detected by Magnetic Resonance Imaging, Successfully Controlled with Tocilizumab. ( 28794369 )
2017
25
Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis. ( 28361334 )
2017
26
Chronic recurrent multifocal osteomyelitis in children and adults: current understanding and areas for development. ( 28486628 )
2017
27
Cat-Scratch Disease, a Diagnostic Consideration for Chronic Recurrent Multifocal Osteomyelitis. ( 29239936 )
2017
28
Classical Hodgkin lymphoma masquerading as chronic recurrent multifocal osteomyelitis: a case report. ( 28212666 )
2017
29
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. ( 27606479 )
2016
30
Successful treatment of chronic recurrent multifocal osteomyelitis using low-dose radiotherapy : A case report. ( 27822735 )
2016
31
Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO). ( 27000045 )
2016
32
Chronic recurrent multifocal osteomyelitis in association with pyoderma gangraenosum. ( 27585859 )
2016
33
Chronic Recurrent Multifocal Osteomyelitis in Crohn's Disease - Complete Resolution with Anti TNFI+ Therapy. ( 27050047 )
2016
34
Whole-Body Diffusion-Weighted Imaging in Chronic Recurrent Multifocal Osteomyelitis in Children. ( 26799970 )
2016
35
Chronic Recurrent Multifocal Osteomyelitis and Thalidomide in Chronic Granulomatous Disease. ( 27436506 )
2016
36
Chronic recurrent multifocal osteomyelitis (CRMO) - advancing the diagnosis. ( 27576444 )
2016
37
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. ( 27156159 )
2016
38
Chronic recurrent multifocal osteomyelitis and inflammatory bowel disease. ( 25493348 )
2015
39
Skull involvement in a pediatric case of chronic recurrent multifocal osteomyelitis. ( 26412896 )
2015
40
Etanercept treatment in five cases of refractory chronic recurrent multifocal osteomyelitis (CRMO). ( 26184538 )
2015
41
Clinical outcome in a Norwegian cohort of patients with chronic recurrent multifocal osteomyelitis. ( 26312400 )
2015
42
Chronic recurrent multifocal osteomyelitis. ( 25701475 )
2015
43
Chronic recurrent multifocal osteomyelitis with an atypical presentation in an adult man. ( 25771734 )
2015
44
Chronic recurrent multifocal osteomyelitis: A rare entity. ( 25898848 )
2015
45
Chronic recurrent multifocal osteomyelitis: a rare skeletal disorder. ( 26307646 )
2015
46
Unusual onset of a case of chronic recurrent multifocal osteomyelitis. ( 26653878 )
2015
47
Whole-body Magnetic Resonance Imaging in Chronic Recurrent Multifocal Osteomyelitis: Clinical Longterm Assessment May Underestimate Activity. ( 25979713 )
2015
48
Chronic recurrent multifocal osteomyelitis in children: nine years' experience at a statewide tertiary paediatric rheumatology referral centre. ( 25936788 )
2015
49
A case of chronic recurrent multifocal osteomyelitis associated with crohn's disease. ( 26151695 )
2015
50
Parotid swelling and chronic recurrent multifocal osteomyelitis of mandible in children. ( 25468462 )
2015

Variations for Chronic Recurrent Multifocal Osteomyelitis

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:

37
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 Glycerophospholipid metabolism hsa00564

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 AIM2 inflammasome complex GO:0097169 9.16 CASP1 PYCARD
2 NLRP1 inflammasome complex GO:0072558 8.96 CASP1 PYCARD
3 NLRP3 inflammasome complex GO:0072559 8.8 CASP1 NLRP3 PYCARD

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.78 CASP1 IL1B NLRP3 PYCARD
2 inflammatory response GO:0006954 9.74 IL1B NLRP3 PYCARD
3 response to lipopolysaccharide GO:0032496 9.63 ALPL CASP1 IL1B
4 cellular response to mechanical stimulus GO:0071260 9.59 CASP1 IL1B
5 cellular response to organic cyclic compound GO:0071407 9.58 ALPL IL1B
6 positive regulation of JNK cascade GO:0046330 9.58 IL1B PYCARD
7 positive regulation of interleukin-6 production GO:0032755 9.56 IL1B PYCARD
8 positive regulation of interferon-gamma production GO:0032729 9.55 IL1B PYCARD
9 cellular response to organic substance GO:0071310 9.54 CASP1 IL1B
10 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.54 IL1B NLRP3 PYCARD
11 positive regulation of phagocytosis GO:0050766 9.52 IL1B PYCARD
12 response to bacterium GO:0009617 9.51 CASP1 NLRP3
13 cellular response to lipopolysaccharide GO:0071222 9.5 CASP1 NLRP3 PYCARD
14 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.49 IL1B NLRP3
15 positive regulation of interleukin-6 secretion GO:2000778 9.43 IL1B PYCARD
16 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.43 CASP1 NLRP3 PYCARD
17 response to ATP GO:0033198 9.4 CASP1 IL1B
18 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.33 CASP1 NLRP3 PYCARD
19 positive regulation of interleukin-1 beta secretion GO:0050718 9.13 CASP1 NLRP3 PYCARD
20 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

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

# Name GO ID Score Top Affiliating Genes
1 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.96 CASP1 PYCARD
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.62 CASP1 PYCARD

Sources for Chronic Recurrent Multifocal Osteomyelitis

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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