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 51 11 47 53
Chronic Multifocal Osteomyelitis 11 47 67
Crmo 11 47 53
 
Multifocal Osteomyelitis, Chronic 47
Cmo 47

Characteristics:

Orphanet epidemiological data:

53
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:

OMIM51 259680
Disease Ontology11 DOID:0060645
ICD1029 M86.3
Orphanet53 ORPHA324964
ICD10 via Orphanet30 M86.3

Summaries for Chronic Recurrent Multifocal Osteomyelitis

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NIH Rare Diseases:47 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.

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

Description from OMIM:51 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 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:

 63 53 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain63 53 hallmark (90%) Very frequent (99-80%) HP:0002653
2 osteomyelitis63 53 hallmark (90%) Very frequent (99-80%) HP:0002754
3 hyperostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0100774
4 abnormality of the metaphyses63 53 typical (50%) Frequent (79-30%) HP:0000944
5 edema63 53 typical (50%) Frequent (79-30%) HP:0000969
6 arthritis63 53 typical (50%) Frequent (79-30%) HP:0001369
7 weight loss63 53 typical (50%) Frequent (79-30%) HP:0001824
8 osteolysis63 53 typical (50%) Frequent (79-30%) HP:0002797
9 abnormality of epiphysis morphology63 53 typical (50%) Frequent (79-30%) HP:0005930
10 increased bone mineral density63 typical (50%) HP:0011001
11 recurrent cutaneous abscess formation63 typical (50%) HP:0100838
12 skin rash63 53 occasional (7.5%) Occasional (29-5%) HP:0000988
13 pruritus63 53 occasional (7.5%) Occasional (29-5%) HP:0000989
14 acne63 53 occasional (7.5%) Occasional (29-5%) HP:0001061
15 polyneuropathy63 occasional (7.5%) HP:0001271
16 anemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001903
17 inflammation of the large intestine63 53 occasional (7.5%) Occasional (29-5%) HP:0002037
18 vasculitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002633
19 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
20 psoriasis63 53 occasional (7.5%) Occasional (29-5%) HP:0003765
21 abnormality of temperature regulation63 occasional (7.5%) HP:0004370
22 venous thrombosis63 occasional (7.5%) HP:0004936
23 cranial nerve paralysis63 53 occasional (7.5%) Occasional (29-5%) HP:0006824
24 abnormality of the sacroiliac joint63 53 occasional (7.5%) Occasional (29-5%) HP:0100781
25 palmoplantar pustulosis63 53 occasional (7.5%) Occasional (29-5%) HP:0100847
26 abnormality of metabolism/homeostasis63 HP:0001939
27 chronic recurrent multifocal osteomyelitis63 HP:0005901
28 fever53 Occasional (29-5%)
29 abnormality of the vertebrae53 Frequent (79-30%)
30 elevated erythrocyte sedimentation rate53 Frequent (79-30%)
31 poor appetite53 Frequent (79-30%)
32 craniofacial osteosclerosis53 Frequent (79-30%)
33 elevated c-reactive protein level53 Frequent (79-30%)
34 fatigue53 Frequent (79-30%)

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:

35
Bone, Skin, Neutrophil, B cells, Testes, Spinal cord, T cells

Animal Models for Chronic Recurrent Multifocal Osteomyelitis or affiliated genes

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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
Chronic recurrent multifocal osteomyelitis with isolated spinal involvement. (27156159)
2016
2
Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO). (27000045)
2016
3
Chronic Recurrent Multifocal Osteomyelitis and Thalidomide in Chronic Granulomatous Disease. (27436506)
2016
4
Chronic recurrent multifocal osteomyelitis and inflammatory bowel disease. (25493348)
2015
5
Clinical outcome in a Norwegian cohort of patients with chronic recurrent multifocal osteomyelitis. (26312400)
2015
6
Caseous granuloma: tuberculosis or chronic recurrent multifocal osteomyelitis? (26019785)
2014
7
Chronic recurrent multifocal osteomyelitis complicated by hip subluxation: a case report. (25123421)
2014
8
Sternocostal involvement in chronic recurrent multifocal osteomyelitis associated with ulcerative colitis. (22961119)
2013
9
A clinical and pathomechanistic profile of chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis and challenges facing the field. (24070048)
2013
10
Diagnostic difficulties: chronic recurrent multifocal osteomyelitis and lymphoma. One or two diseases? (22610142)
2013
11
Chronic Recurrent Multifocal Osteomyelitis in Children: A Multidisciplinary Approach is needed to establish a Diagnosis. (25165423)
2013
12
Chronic recurrent multifocal osteomyelitis. (23695372)
2013
13
Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. (22359228)
2012
14
Normophosphatemic type tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis: a case report. (21610312)
2011
15
Combination therapy with methotrexate and etanercept for refractory chronic recurrent multifocal osteomyelitis. (21459961)
2011
16
Spinal involvement in chronic recurrent multifocal osteomyelitis (CRMO) in childhood and effect of pamidronate. (20339868)
2010
17
Granulomatous pyoderma preceding chronic recurrent multifocal osteomyelitis triggered by vaccinations in a two-year-old boy: a case report. (20955551)
2010
18
Your diagnosis? Chronic recurrent multifocal osteomyelitis. (20415344)
2010
19
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. (19335222)
2009
20
Chronic recurrent multifocal osteomyelitis of the first metatarsal bone: a case report. (19398809)
2009
21
Bisphosphonate treatment in chronic recurrent multifocal osteomyelitis. (18346517)
2008
22
Chronic recurrent multifocal osteomyelitis: a concise review and genetic update. (17496555)
2007
23
Chronic recurrent multifocal osteomyelitis: what is it and how should it be treated? (18037933)
2007
24
Chronic recurrent multifocal osteomyelitis is a differential of childhood limp. (16371374)
2006
25
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
26
Imaging of chronic recurrent multifocal osteomyelitis of childhood first presenting with isolated primary spinal involvement. (12761599)
2003
27
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. (11795677)
2001
28
Chronic recurrent multifocal osteomyelitis is a differential diagnosis of juvenile idiopathic arthritis. (11502607)
2001
29
Chronic recurrent multifocal osteomyelitis with Crohn's disease exacerbation and vasculitis after granulocyte colony-stimulating factor therapy. (19078487)
2000
30
Chronic recurrent multifocal osteomyelitis associated with ulcerative colitis: a case report. (11051168)
2000
31
Premature epiphyseal fusion and degenerative arthritis in chronic recurrent multifocal osteomyelitis. (10741498)
2000
32
Chronic recurrent multifocal osteomyelitis in children: diagnostic value of histopathology and microbial testing. (9923928)
1999
33
Chronic recurrent multifocal osteomyelitis involving both jaws: report of a case including magnetic resonance correlation. (9117765)
1997
34
Chronic recurrent multifocal osteomyelitis: an evolving clinical and radiological spectrum. (8737997)
1996
35
Chronic recurrent multifocal osteomyelitis: spinal involvement and radiological appearances. (8883445)
1996
36
Effective treatment with interferon-alpha in chronic recurrent multifocal osteomyelitis. (8564704)
1995
37
Pustular psoriasis with chronic recurrent multifocal osteomyelitis and spontaneous fractures. (8034808)
1994
38
Chronic recurrent multifocal osteomyelitis after acute lymphoblastic leukaemia. (8039958)
1994
39
Chronic recurrent multifocal osteomyelitis: report of a case. (1554846)
1992
40
Chronic recurrent multifocal osteomyelitis. (1565588)
1992
41
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. (2809904)
1989
42
Pulmonary association in a case of chronic recurrent multifocal osteomyelitis. (2771471)
1989
43
Chronic recurrent multifocal osteomyelitis in children. A roentgenologic and scintigraphic investigation. (3166878)
1988
44
Pustulotic arthroosteitis and chronic recurrent multifocal osteomyelitis in children. Report of three cases. (2965242)
1988
45
Chronic recurrent multifocal osteomyelitis: a follow-up study. (3335622)
1988
46
Chronic recurrent multifocal osteomyelitis. (3380590)
1988
47
Chronic recurrent multifocal osteomyelitis. (3259798)
1988
48
Chronic recurrent multifocal osteomyelitis: a noninfectious inflammatory process. (3696821)
1987
49
Chronic recurrent multifocal osteomyelitis. A case report. (6480641)
1984
50
Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. (478042)
1979

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:00971699.4CASP1, PYCARD
2NLRP3 inflammasome complexGO:00725599.3CASP1, PYCARD
3NLRP1 inflammasome complexGO:00725589.1CASP1, PYCARD

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1dephosphorylationGO:001631110.2ALPL, LPIN2
2response to vitamin DGO:003328010.0ALPL, IL1B
3cellular response to organic substanceGO:007131010.0CASP1, IL1B
4positive regulation of interleukin-6 secretionGO:200077810.0IL1B, PYCARD
5positive regulation of interleukin-1 beta secretionGO:005071810.0CASP1, PYCARD
6cellular response to mechanical stimulusGO:007126010.0CASP1, IL1B
7cellular response to organic cyclic compoundGO:00714079.9ALPL, IL1B
8positive regulation of interferon-gamma productionGO:00327299.9IL1B, PYCARD
9response to bacteriumGO:00096179.8CASP1, PYCARD
10positive regulation of JNK cascadeGO:00463309.8IL1B, PYCARD
11positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7IL1B, PYCARD
12positive regulation of interleukin-6 productionGO:00327559.7IL1B, PYCARD
13activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7CASP1, PYCARD
14positive regulation of phagocytosisGO:00507669.6IL1B, PYCARD
15response to ATPGO:00331989.5CASP1, IL1B
16response to lipopolysaccharideGO:00324969.5ALPL, CASP1, IL1B
17interleukin-1 beta productionGO:00326119.5CASP1, IL1B, PYCARD
18regulation of autophagyGO:00105069.4CASP1, PYCARD
19regulation of inflammatory responseGO:00507279.1CASP1, PYCARD
20apoptotic processGO:00069158.8CASP1, IL1B, PYCARD

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:00086569.4CASP1, PYCARD
2cysteine-type endopeptidase activity involved in apoptotic processGO:00971539.1CASP1, PYCARD

Sources for Chronic Recurrent Multifocal Osteomyelitis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet