MCID: CHR288
MIFTS: 55

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 53 12 72 49 36 14
Chronic Multifocal Osteomyelitis 12 49 69
Crmo 53 12 49
Chronic Nonbacterial Osteomyelitis/chronic Recurrent Multifocal Osteomyelitis 49 55
Cno/crmo 49 55
Cmo 53 49
Osteomyelitis, Chronic Multifocal; Cmo 53
Osteomyelitis, Chronic Multifocal 53
Multifocal Osteomyelitis, Chronic 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
? autosomal recessive


Classifications:



Summaries for Chronic Recurrent Multifocal Osteomyelitis

NIH Rare Diseases : 49 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. Last updated: 5/15/2013

MalaCards based summary : Chronic Recurrent Multifocal Osteomyelitis, also known as chronic multifocal osteomyelitis, is related to osteomyelitis and bone inflammation disease, and has symptoms including pruritus, fatigue and edema. 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 Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

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 : 72 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 68)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 31.0 CASP1 FBLIM1 IL1B LPIN2
2 bone inflammation disease 29.6 IL1B NLRP3
3 familial mediterranean fever 29.4 CASP1 IL1B NLRP3
4 majeed syndrome 12.4
5 corticosterone methyloxidase type i deficiency 11.9
6 corticosterone methyloxidase type ii deficiency 11.8
7 corticosterone methyloxidase deficiency 10.9
8 pyoderma 10.2
9 arthritis 10.1
10 crohn's disease 10.1
11 lymphoma 10.1
12 pyoderma gangrenosum 10.1
13 blood group, i system 10.1
14 typhoid fever 10.1 CASP1 IL1B
15 vulvar vestibulitis syndrome 10.1 IL1B NLRP3
16 cervical adenitis 10.1 IL1B NLRP3
17 schnitzler syndrome 10.1 IL1B NLRP3
18 salmonellosis 10.1 CASP1 IL1B
19 mevalonic aciduria 10.1 IL1B NLRP3
20 aseptic meningitis 10.1 IL1B NLRP3
21 blau syndrome 10.0 IL1B NLRP3
22 episodic pain syndrome, familial, 1 10.0
23 ulcerative colitis 10.0
24 colitis 10.0
25 sapho syndrome 10.0
26 calcinosis 10.0
27 pustulosis of palm and sole 10.0
28 psoriasis 10.0
29 wells syndrome 10.0 IL1B NLRP3
30 aphthous stomatitis 10.0 IL1B NLRP3
31 silicosis 10.0 IL1B NLRP3
32 inflammatory bowel disease 10.0
33 scoliosis 10.0
34 congenital dyserythropoietic anemia 10.0
35 enamel caries 10.0
36 chlamydia 9.9 CASP1 IL1B
37 pneumoconiosis 9.9 IL1B NLRP3
38 tinea favosa 9.8 CASP1 IL1B NLRP3
39 familial cold autoinflammatory syndrome 1 9.8 CASP1 IL1B NLRP3
40 takayasu arteritis 9.8
41 lymphoma, hodgkin, classic 9.8
42 hypophosphatasia, childhood 9.8
43 osteoid osteoma 9.8
44 mycobacterium tuberculosis 1 9.8
45 neutrophilic dermatosis, acute febrile 9.8
46 b-cell lymphomas 9.8
47 chronic granulomatous disease 9.8
48 leukemia 9.8
49 selective igm deficiency disease 9.8
50 lymphoblastic leukemia 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:

53
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:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000989
2 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
3 edema 55 31 frequent (33%) Frequent (79-30%) HP:0000969
4 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
5 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 abnormality of epiphysis morphology 55 31 frequent (33%) Frequent (79-30%) HP:0005930
7 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 arthritis 55 31 frequent (33%) Frequent (79-30%) HP:0001369
9 abnormal vertebral morphology 55 31 frequent (33%) Frequent (79-30%) HP:0003468
10 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
11 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
12 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
13 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
14 acne 55 31 occasional (7.5%) Occasional (29-5%) HP:0001061
15 inflammation of the large intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0002037
16 osteomyelitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002754
17 skin rash 55 31 occasional (7.5%) Occasional (29-5%) HP:0000988
18 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
19 hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100774
20 osteolysis 55 31 frequent (33%) Frequent (79-30%) HP:0002797
21 elevated c-reactive protein level 55 31 frequent (33%) Frequent (79-30%) HP:0011227
22 abnormality of the sacroiliac joint 55 31 occasional (7.5%) Occasional (29-5%) HP:0100781
23 elevated erythrocyte sedimentation rate 55 31 frequent (33%) Frequent (79-30%) HP:0003565
24 poor appetite 55 31 frequent (33%) Frequent (79-30%) HP:0004396
25 craniofacial osteosclerosis 55 31 frequent (33%) Frequent (79-30%) HP:0005464
26 palmoplantar pustulosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100847
27 abnormality of metabolism/homeostasis 31 HP:0001939
28 psoriasis 55 Occasional (29-5%)
29 chronic recurrent multifocal osteomyelitis 31 HP:0005901
30 psoriasiform dermatitis 31 occasional (7.5%) HP:0003765

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CASP1 IL1B NLRP3 PYCARD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 CASP1 IL1B NLRP3 PYCARD

MGI Mouse Phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

43
# 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 ALPL CASP1 CPT1B IL1B LPIN2 NLRP3
3 immune system MP:0005387 9.17 NLRP3 PYCARD ALPL CASP1 FBLIM1 IL1B

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

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:

38
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 215)
# Title Authors Year
1
Complete resolution and remodeling of chronic recurrent multifocal osteomyelitis on MRI and radiographs. ( 29124297 )
2018
2
Biologic treatment for chronic recurrent multifocal osteomyelitis: report of four cases and review of the literature. ( 29127574 )
2018
3
Chronic Recurrent Multifocal Osteomyelitis: A Case Report with Atypical Presentation. ( 28630846 )
2017
4
Chronic recurrent multifocal osteomyelitis: a case report. ( 29062831 )
2017
5
Adult-onset Chronic Recurrent Multifocal Osteomyelitis with High Intensity of Muscles Detected by Magnetic Resonance Imaging, Successfully Controlled with Tocilizumab. ( 28794369 )
2017
6
Chronic Recurrent Multifocal Osteomyelitis in a 9-year-old Boy. ( 28656169 )
2017
7
An Unusual Association of Chronic Recurrent Multifocal Osteomyelitis, Pyoderma Gangrenosum, and Takayasu Arteritis. ( 28042129 )
2017
8
Chronic recurrent multifocal osteomyelitis exhibiting predominance of periosteal reaction. ( 28614530 )
2017
9
An Update on the Pathogenesis and Treatment of Chronic Recurrent Multifocal Osteomyelitis in Children. ( 28401420 )
2017
10
Classical Hodgkin lymphoma masquerading as chronic recurrent multifocal osteomyelitis: a case report. ( 28212666 )
2017
11
Chronic recurrent multifocal osteomyelitis in children and adults: current understanding and areas for development. ( 28486628 )
2017
12
Chronic recurrent multifocal osteomyelitis beginning with a solitary lesion of the ilium. ( 28587611 )
2017
13
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). ( 28686717 )
2017
14
Paediatric chronic recurrent multifocal osteomyelitis. ( 28280083 )
2017
15
Chronic recurrent multifocal osteomyelitis presenting with Tolosa-Hunt syndrome in a 13-year-old boy. ( 28598320 )
2017
16
Chronic Recurrent Multifocal Osteomyelitis (CRMO): Presentation, Pathogenesis, and Treatment. ( 29080202 )
2017
17
Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis. ( 28361334 )
2017
18
Utility of Three-phase Skeletal Scintigraphy with Single Photon Emission Computed Tomography/Computed Tomography in a Case of Chronic Recurrent Multifocal Osteomyelitis. ( 28680224 )
2017
19
Cat-Scratch Disease, a Diagnostic Consideration for Chronic Recurrent Multifocal Osteomyelitis. ( 29239936 )
2017
20
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). ( 28301468 )
2017
21
Oral alendronate in pediatric chronic recurrent multifocal osteomyelitis. ( 28401741 )
2017
22
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. ( 27156159 )
2016
23
Chronic Recurrent Multifocal Osteomyelitis in Crohn's Disease - Complete Resolution with Anti TNFI+ Therapy. ( 27050047 )
2016
24
Whole-Body Diffusion-Weighted Imaging in Chronic Recurrent Multifocal Osteomyelitis in Children. ( 26799970 )
2016
25
Successful treatment of chronic recurrent multifocal osteomyelitis using low-dose radiotherapy : A case report. ( 27822735 )
2016
26
Chronic recurrent multifocal osteomyelitis (CRMO) - advancing the diagnosis. ( 27576444 )
2016
27
Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO). ( 27000045 )
2016
28
Chronic Recurrent Multifocal Osteomyelitis and Thalidomide in Chronic Granulomatous Disease. ( 27436506 )
2016
29
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. ( 27606479 )
2016
30
Chronic recurrent multifocal osteomyelitis in association with pyoderma gangraenosum. ( 27585859 )
2016
31
A case of chronic recurrent multifocal osteomyelitis associated with crohn's disease. ( 26151695 )
2015
32
Chronic recurrent multifocal osteomyelitis: a rare skeletal disorder. ( 26307646 )
2015
33
Chronic recurrent multifocal osteomyelitis: A rare entity. ( 25898848 )
2015
34
Unusual onset of a case of chronic recurrent multifocal osteomyelitis. ( 26653878 )
2015
35
Skull involvement in a pediatric case of chronic recurrent multifocal osteomyelitis. ( 26412896 )
2015
36
Etanercept treatment in five cases of refractory chronic recurrent multifocal osteomyelitis (CRMO). ( 26184538 )
2015
37
The Contributions of Whole-body Magnetic Resonance Imaging for the Diagnosis and Management of Chronic Recurrent Multifocal Osteomyelitis. ( 26233948 )
2015
38
Chronic recurrent multifocal osteomyelitis in children: nine years' experience at a statewide tertiary paediatric rheumatology referral centre. ( 25936788 )
2015
39
Clinical outcome in a Norwegian cohort of patients with chronic recurrent multifocal osteomyelitis. ( 26312400 )
2015
40
Whole-body Magnetic Resonance Imaging in Chronic Recurrent Multifocal Osteomyelitis: Clinical Longterm Assessment May Underestimate Activity. ( 25979713 )
2015
41
Parotid swelling and chronic recurrent multifocal osteomyelitis of mandible in children. ( 25468462 )
2015
42
Chronic recurrent multifocal osteomyelitis and inflammatory bowel disease. ( 25493348 )
2015
43
Chronic recurrent multifocal osteomyelitis. ( 25701475 )
2015
44
Chronic recurrent multifocal osteomyelitis with an atypical presentation in an adult man. ( 25771734 )
2015
45
Chronic recurrent multifocal osteomyelitis manifested as painful clavicular swelling: a case report. ( 25374147 )
2014
46
Caseous granuloma: tuberculosis or chronic recurrent multifocal osteomyelitis? ( 26019785 )
2014
47
Chronic recurrent multifocal osteomyelitis complicated by hip subluxation: a case report. ( 25123421 )
2014
48
Retracted: chronic recurrent multifocal osteomyelitis with concomitant features of juvenile idiopathic arthritis. ( 25543994 )
2014
49
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. ( 25351881 )
2014
50
Skin manifestations associated with chronic recurrent multifocal osteomyelitis in a 9-year-old girl. ( 25438001 )
2014

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:

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 CASP1 IL1B NLRP3 PYCARD
2
Show member pathways
12.43 CASP1 IL1B NLRP3 PYCARD
3
Show member pathways
12.34 CASP1 IL1B PYCARD
4
Show member pathways
11.7 CASP1 IL1B NLRP3 PYCARD
5
Show member pathways
11.64 CASP1 NLRP3 PYCARD
6
Show member pathways
11.52 CASP1 IL1B
7 11.48 CASP1 IL1B PYCARD
8 11.17 CASP1 IL1B PYCARD
9 11.14 CASP1 IL1B NLRP3 PYCARD
10 10.88 IL1B NLRP3
11 10.8 CASP1 IL1B
12 10.54 CASP1 IL1B NLRP3 PYCARD
13 10.17 CASP1 IL1B

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 22)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.8 CASP1 IL1B NLRP3 PYCARD
2 inflammatory response GO:0006954 9.75 IL1B NLRP3 PYCARD
3 response to lipopolysaccharide GO:0032496 9.65 ALPL CASP1 IL1B
4 cellular response to mechanical stimulus GO:0071260 9.61 CASP1 IL1B
5 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.6 NLRP3 PYCARD
6 cellular response to organic cyclic compound GO:0071407 9.59 ALPL IL1B
7 positive regulation of JNK cascade GO:0046330 9.58 IL1B PYCARD
8 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.58 IL1B NLRP3 PYCARD
9 regulation of autophagy GO:0010506 9.57 CASP1 PYCARD
10 positive regulation of interleukin-6 production GO:0032755 9.56 IL1B PYCARD
11 positive regulation of interferon-gamma production GO:0032729 9.55 IL1B PYCARD
12 cellular response to organic substance GO:0071310 9.54 CASP1 IL1B
13 cellular response to lipopolysaccharide GO:0071222 9.54 CASP1 NLRP3 PYCARD
14 response to bacterium GO:0009617 9.52 CASP1 PYCARD
15 positive regulation of phagocytosis GO:0050766 9.51 IL1B PYCARD
16 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.5 CASP1 NLRP3 PYCARD
17 positive regulation of interleukin-6 secretion GO:2000778 9.46 IL1B PYCARD
18 response to ATP GO:0033198 9.43 CASP1 IL1B
19 regulation of inflammatory response GO:0050727 9.43 CASP1 NLRP3 PYCARD
20 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.33 CASP1 NLRP3 PYCARD
21 positive regulation of interleukin-1 beta secretion GO:0050718 9.13 CASP1 NLRP3 PYCARD
22 interleukin-1 beta production GO:0032611 8.92 CASP1 IL1B NLRP3 PYCARD

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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