MCID: CHR288
MIFTS: 45

Chronic Recurrent Multifocal Osteomyelitis malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Chronic Recurrent Multifocal Osteomyelitis

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Aliases & Descriptions for Chronic Recurrent Multifocal Osteomyelitis:

Name: Chronic Recurrent Multifocal Osteomyelitis 52 11 48 54
Chronic Multifocal Osteomyelitis 11 48 68
Crmo 11 48 54
 
Multifocal Osteomyelitis, Chronic 48
Cmo 48

Characteristics:

Orphanet epidemiological data:

54
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

Classifications:



External Ids:

OMIM52 259680
Disease Ontology11 DOID:0060645
ICD1030 M86.3
Orphanet54 ORPHA324964
ICD10 via Orphanet31 M86.3

Summaries for Chronic Recurrent Multifocal Osteomyelitis

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NIH Rare Diseases:48 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 majeed syndrome and hypoaldosteronism, congenital, due to cmo i deficiency, and has symptoms including bone pain, osteomyelitis and hyperostosis. An important gene associated with Chronic Recurrent Multifocal Osteomyelitis is LPIN2 (Lipin 2), and among its related pathways are Cellular roles of Anthrax toxin and Interleukin-1 signaling. Affiliated tissues include bone, skin and neutrophil, and related mouse phenotype Synthetic lethal with MLN4924 (a NAE inhibitor).

Disease Ontology:11 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:71 Chronic recurrent multifocal osteomyelitis (CRMO) (\"multifocal\" because it can erupt in different... more...

Description from OMIM:52 259680

Related Diseases for Chronic Recurrent Multifocal Osteomyelitis

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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

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Symptoms by clinical synopsis from OMIM:

259680

Clinical features from OMIM:

259680

Human phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

 64 54 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002653
2 osteomyelitis64 54 hallmark (90%) Very frequent (99-80%) HP:0002754
3 hyperostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0100774
4 abnormality of the metaphyses64 54 typical (50%) Frequent (79-30%) HP:0000944
5 edema64 54 typical (50%) Frequent (79-30%) HP:0000969
6 arthritis64 54 typical (50%) Frequent (79-30%) HP:0001369
7 weight loss64 54 typical (50%) Frequent (79-30%) HP:0001824
8 osteolysis64 54 typical (50%) Frequent (79-30%) HP:0002797
9 abnormality of epiphysis morphology64 54 typical (50%) Frequent (79-30%) HP:0005930
10 increased bone mineral density64 typical (50%) HP:0011001
11 recurrent cutaneous abscess formation64 typical (50%) HP:0100838
12 skin rash64 54 occasional (7.5%) Occasional (29-5%) HP:0000988
13 pruritus64 54 occasional (7.5%) Occasional (29-5%) HP:0000989
14 acne64 54 occasional (7.5%) Occasional (29-5%) HP:0001061
15 polyneuropathy64 occasional (7.5%) HP:0001271
16 anemia64 54 occasional (7.5%) Occasional (29-5%) HP:0001903
17 inflammation of the large intestine64 54 occasional (7.5%) Occasional (29-5%) HP:0002037
18 vasculitis64 54 occasional (7.5%) Occasional (29-5%) HP:0002633
19 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
20 psoriasis64 54 occasional (7.5%) Occasional (29-5%) HP:0003765
21 abnormality of temperature regulation64 occasional (7.5%) HP:0004370
22 venous thrombosis64 occasional (7.5%) HP:0004936
23 cranial nerve paralysis64 54 occasional (7.5%) Occasional (29-5%) HP:0006824
24 abnormality of the sacroiliac joint64 54 occasional (7.5%) Occasional (29-5%) HP:0100781
25 palmoplantar pustulosis64 54 occasional (7.5%) Occasional (29-5%) HP:0100847
26 abnormality of metabolism/homeostasis64 HP:0001939
27 chronic recurrent multifocal osteomyelitis64 HP:0005901
28 fever54 Occasional (29-5%)
29 abnormality of the vertebrae54 Frequent (79-30%)
30 elevated erythrocyte sedimentation rate54 Frequent (79-30%)
31 poor appetite54 Frequent (79-30%)
32 craniofacial osteosclerosis54 Frequent (79-30%)
33 elevated c-reactive protein level54 Frequent (79-30%)
34 fatigue54 Frequent (79-30%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-15.6CASP1, IL1B, KIAA1468, PYCARD, CASP1, IL1B

Drugs & Therapeutics for Chronic Recurrent Multifocal Osteomyelitis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 24440391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium

Interventional clinical trials:

idNameStatusNCT IDPhase
1Chronic Non-bacterial Osteomyelitis Treated With PamidronateRecruitingNCT02594878Phase 2

Search NIH Clinical Center for Chronic Recurrent Multifocal Osteomyelitis

Genetic Tests for Chronic Recurrent Multifocal Osteomyelitis

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Anatomical Context for Chronic Recurrent Multifocal Osteomyelitis

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MalaCards organs/tissues related to Chronic Recurrent Multifocal Osteomyelitis:

36
Bone, Skin, Neutrophil, B cells, Testes, Spinal cord, T cells

Publications for Chronic Recurrent Multifocal Osteomyelitis

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Articles related to Chronic Recurrent Multifocal Osteomyelitis:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
An Unusual Association of Chronic Recurrent Multifocal Osteomyelitis, Pyoderma Gangrenosum, and Takayasu Arteritis. (28042129)
2017
2
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. (27156159)
2016
3
Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO). (27000045)
2016
4
Chronic Recurrent Multifocal Osteomyelitis and Thalidomide in Chronic Granulomatous Disease. (27436506)
2016
5
Successful treatment of chronic recurrent multifocal osteomyelitis using low-dose radiotherapy : A case report. (27822735)
2016
6
Whole-Body Diffusion-Weighted Imaging in Chronic Recurrent Multifocal Osteomyelitis in Children. (26799970)
2016
7
Chronic recurrent multifocal osteomyelitis (CRMO) - advancing the diagnosis. (27576444)
2016
8
Chronic Recurrent Multifocal Osteomyelitis in Crohn's Disease - Complete Resolution with Anti TNFI+ Therapy. (27050047)
2016
9
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. (27606479)
2016
10
Chronic recurrent multifocal osteomyelitis in association with pyoderma gangraenosum. (27585859)
2016
11
Chronic recurrent multifocal osteomyelitis and inflammatory bowel disease. (25493348)
2015
12
Clinical outcome in a Norwegian cohort of patients with chronic recurrent multifocal osteomyelitis. (26312400)
2015
13
A case of chronic recurrent multifocal osteomyelitis associated with crohn's disease. (26151695)
2015
14
Chronic recurrent multifocal osteomyelitis in children: nine years' experience at a statewide tertiary paediatric rheumatology referral centre. (25936788)
2015
15
Chronic recurrent multifocal osteomyelitis: a rare skeletal disorder. (26307646)
2015
16
Whole-body Magnetic Resonance Imaging in Chronic Recurrent Multifocal Osteomyelitis: Clinical Longterm Assessment May Underestimate Activity. (25979713)
2015
17
Unusual onset of a case of chronic recurrent multifocal osteomyelitis. (26653878)
2015
18
Chronic recurrent multifocal osteomyelitis. (25701475)
2015
19
Parotid swelling and chronic recurrent multifocal osteomyelitis of mandible in children. (25468462)
2015
20
Etanercept treatment in five cases of refractory chronic recurrent multifocal osteomyelitis (CRMO). (26184538)
2015
21
Chronic recurrent multifocal osteomyelitis with an atypical presentation in an adult man. (25771734)
2015
22
Chronic recurrent multifocal osteomyelitis: A rare entity. (25898848)
2015
23
The Contributions of Whole-body Magnetic Resonance Imaging for the Diagnosis and Management of Chronic Recurrent Multifocal Osteomyelitis. (26233948)
2015
24
Skull involvement in a pediatric case of chronic recurrent multifocal osteomyelitis. (26412896)
2015
25
Caseous granuloma: tuberculosis or chronic recurrent multifocal osteomyelitis? (26019785)
2014
26
Chronic recurrent multifocal osteomyelitis complicated by hip subluxation: a case report. (25123421)
2014
27
Skin manifestations associated with chronic recurrent multifocal osteomyelitis in a 9-year-old girl. (25438001)
2014
28
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. (25351881)
2014
29
Chronic recurrent multifocal osteomyelitis: typical patterns of bone involvement in whole-body bone scintigraphy. (24736329)
2014
30
Deregulation of the IL-1I^ axis in chronic recurrent multifocal osteomyelitis. (25061439)
2014
31
Retracted: chronic recurrent multifocal osteomyelitis with concomitant features of juvenile idiopathic arthritis. (25543994)
2014
32
Chronic recurrent multifocal osteomyelitis: the prevalence of lower-limb and foot involvement. (25514269)
2014
33
Chronic recurrent multifocal osteomyelitis (CRMO) in children - single-centre clinical observations and experience. (25058105)
2014
34
Chronic recurrent multifocal osteomyelitis manifested as painful clavicular swelling: a case report. (25374147)
2014
35
99mTc-HMPAO-Labeled WBC Scan for the Diagnosis of Chronic Recurrent Multifocal Osteomyelitis. (25168250)
2014
36
Sternocostal involvement in chronic recurrent multifocal osteomyelitis associated with ulcerative colitis. (22961119)
2013
37
A clinical and pathomechanistic profile of chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis and challenges facing the field. (24070048)
2013
38
Diagnostic difficulties: chronic recurrent multifocal osteomyelitis and lymphoma. One or two diseases? (22610142)
2013
39
Chronic Recurrent Multifocal Osteomyelitis in Children: A Multidisciplinary Approach is needed to establish a Diagnosis. (25165423)
2013
40
Chronic recurrent multifocal osteomyelitis. (23695372)
2013
41
Bisphosphonate therapy for chronic recurrent multifocal osteomyelitis. (23624726)
2013
42
Chronic recurrent multifocal osteomyelitis. (23654059)
2013
43
Typical patterns of bone involvement in whole-body MRI of patients with chronic recurrent multifocal osteomyelitis (CRMO). (23696017)
2013
44
Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO). (24359092)
2013
45
Chronic recurrent multifocal osteomyelitis in a 13 year old female athlete: a case report. (24302781)
2013
46
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist. (23241992)
2013
47
Chronic recurrent multifocal osteomyelitis (CRMO): a longitudinal case series review. (23263195)
2013
48
Chronic recurrent multifocal osteomyelitis causing an acute scoliosis. (23997974)
2013
49
Unusual presentation of spinal involvement in a child with chronic recurrent multifocal osteomyelitis. (23992272)
2013
50
Tibial stress fracture simulate osteomyelitic foci in the course of chronic recurrent multifocal osteomyelitis. (24611355)
2013

Variations for Chronic Recurrent Multifocal Osteomyelitis

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Expression for genes affiliated with Chronic Recurrent Multifocal Osteomyelitis

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

Pathways for genes affiliated with Chronic Recurrent Multifocal Osteomyelitis

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.5CASP1, IL1B
2
Show member pathways
9.5CASP1, IL1B
39.5CASP1, IL1B
4
Show member pathways
9.0CASP1, CCL27, IL1B
5
Show member pathways
8.9CASP1, IL1B, PYCARD
6
Show member pathways
8.9CASP1, IL1B, PYCARD
7
Show member pathways
8.9CASP1, IL1B, PYCARD
88.9CASP1, IL1B, PYCARD
9
Show member pathways
8.9CASP1, IL1B, PYCARD
108.9CASP1, IL1B, PYCARD
11
Show member pathways
8.9CASP1, IL1B, PYCARD

GO Terms for genes affiliated with Chronic Recurrent Multifocal Osteomyelitis

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

idNameGO IDScoreTop Affiliating Genes
1AIM2 inflammasome complexGO:00971699.7CASP1, PYCARD
2NLRP1 inflammasome complexGO:00725589.6CASP1, PYCARD
3NLRP3 inflammasome complexGO:00725599.4CASP1, PYCARD

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1dephosphorylationGO:001631110.4ALPL, LPIN2
2cellular response to organic cyclic compoundGO:007140710.2ALPL, IL1B
3cellular response to mechanical stimulusGO:007126010.2CASP1, IL1B
4cellular response to organic substanceGO:007131010.2CASP1, IL1B
5activation of cysteine-type endopeptidase activity involved in apoptotic processGO:000691910.1CASP1, PYCARD
6response to ATPGO:003319810.1CASP1, IL1B
7positive regulation of interleukin-1 beta secretionGO:005071810.1CASP1, PYCARD
8regulation of autophagyGO:001050610.0CASP1, PYCARD
9positive regulation of interferon-gamma productionGO:003272910.0IL1B, PYCARD
10regulation of inflammatory responseGO:005072710.0CASP1, PYCARD
11positive regulation of interleukin-6 productionGO:003275510.0IL1B, PYCARD
12positive regulation of interleukin-6 secretionGO:200077810.0IL1B, PYCARD
13positive regulation of JNK cascadeGO:004633010.0IL1B, PYCARD
14response to bacteriumGO:000961710.0CASP1, PYCARD
15positive regulation of phagocytosisGO:005076610.0IL1B, PYCARD
16positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0IL1B, PYCARD
17apoptotic processGO:00069159.6CASP1, IL1B, PYCARD
18interleukin-1 beta productionGO:00326119.6CASP1, IL1B, PYCARD
19response to vitamin DGO:00332809.5ALPL, IL1B
20response to lipopolysaccharideGO:00324969.4ALPL, CASP1, IL1B

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

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.7CASP1, PYCARD
2cysteine-type endopeptidase activity involved in apoptotic processGO:00971539.4CASP1, PYCARD

Sources for Chronic Recurrent Multifocal Osteomyelitis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet