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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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Chronic Recurrent Multifocal Osteomyelitis:

Name: Chronic Recurrent Multifocal Osteomyelitis 45 51
Chronic Multifocal Osteomyelitis 45 65
Crmo 45 51
 
Multifocal Osteomyelitis, Chronic 45
Cmo 45

Characteristics:

Orphanet epidemiological data:

51
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:

Orphanet51 324964
ICD10 via Orphanet28 M86.3
ICD1027 M86.3
UMLS65 C0410422

Summaries for Chronic Recurrent Multifocal Osteomyelitis

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NIH Rare Diseases:45 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 porphyria and hypoaldosteronism, congenital, due to cmo ii deficiency, and has symptoms including hyperostosis, osteomyelitis and bone pain. 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 Immune response IFN gamma signaling pathway. Affiliated tissues include bone, skin and brain, and related mouse phenotype hematopoietic system.

Wikipedia:68 Chronic recurrent multifocal osteomyelitis (CRMO) (\"multifocal\" because it can erupt in different... more...

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:

 51 (show all 28)
  • hyperostosis
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone pain
  • anomalies of spine, vertebrae and pelvis
  • furuncle/cutaneous abscess/hidrosadenitis suppurativa
  • cutaneous edema
  • osteosclerosis/osteopetrosis/bone condensation
  • osteolysis/osteoclasia/bone destruction/erosions
  • metaphyseal anomaly
  • epiphyseal anomaly
  • arthritis/synovitis/synovial proliferation
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • scoliosis
  • sacroiliac joints anomalies
  • palmoplantar pustulosis
  • cutaneous rash
  • psoriasis
  • pruritus/itching
  • acne/acnea
  • inflammatory intestinal disease
  • venous stenosis
  • vascularitis/vasculitides/arteritis
  • cranial nerves palsy
  • neuritis/polyneuritis/multineuritis
  • anaemia
  • fever/chilling

HPO human phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

(show all 27)
id Description Frequency HPO Source Accession
1 hyperostosis hallmark (90%) HP:0100774
2 osteomyelitis hallmark (90%) HP:0002754
3 bone pain hallmark (90%) HP:0002653
4 recurrent cutaneous abscess formation typical (50%) HP:0100838
5 increased bone mineral density typical (50%) HP:0011001
6 abnormality of epiphysis morphology typical (50%) HP:0005930
7 osteolysis typical (50%) HP:0002797
8 weight loss typical (50%) HP:0001824
9 arthritis typical (50%) HP:0001369
10 edema typical (50%) HP:0000969
11 abnormality of the metaphyses typical (50%) HP:0000944
12 palmoplantar pustulosis occasional (7.5%) HP:0100847
13 abnormality of the sacroiliac joint occasional (7.5%) HP:0100781
14 cranial nerve paralysis occasional (7.5%) HP:0006824
15 venous thrombosis occasional (7.5%) HP:0004936
16 abnormality of temperature regulation occasional (7.5%) HP:0004370
17 psoriasis occasional (7.5%) HP:0003765
18 scoliosis occasional (7.5%) HP:0002650
19 vasculitis occasional (7.5%) HP:0002633
20 inflammation of the large intestine occasional (7.5%) HP:0002037
21 anemia occasional (7.5%) HP:0001903
22 polyneuropathy occasional (7.5%) HP:0001271
23 acne occasional (7.5%) HP:0001061
24 pruritus occasional (7.5%) HP:0000989
25 skin rash occasional (7.5%) HP:0000988
26 chronic recurrent multifocal osteomyelitis HP:0005901
27 abnormality of metabolism/homeostasis HP:0001939

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 24340391-99-94674
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:

33
Bone, Skin, Brain, Breast, B cells, Liver, T cells

Animal Models for Chronic Recurrent Multifocal Osteomyelitis or affiliated genes

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MGI Mouse Phenotypes related to Chronic Recurrent Multifocal Osteomyelitis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.0ALPL, CASP1, IL1B, LPIN2, PYCARD

Publications for Chronic Recurrent Multifocal Osteomyelitis

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Articles related to Chronic Recurrent Multifocal Osteomyelitis:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Distinct effect of CacyBP/SIP on the ERK1/2-CREB-BDNF pathway in undifferentiated and differentiated neuroblastoma NB2a cells. (27180052)
2016
2
The ACDC pilot trial: targeting the anterior cingulate by double cone coil rTMS for the treatment of depression. (25541389)
2015
3
Teaching Neuroimages: Basal Ganglia Germinoma with Hemiatrophy. (25795465)
2015
4
Health-related quality of life in patients with sickle cell disease in Saudi Arabia. (26573908)
2015
5
Genetic variation in the tissue factor gene is associated with clinical outcome in severe sepsis patients. (25407675)
2014
6
The FTO genotype as a useful predictor of body weight maintenance: initial data from a 5-year follow-up study. (24798613)
2014
7
Primary Cutaneous Diffuse Large B Cell Lymphoma, Leg Type (PCDLBCL-LT) in the Setting of Prior Radiation Therapy. (25326162)
2014
8
Assessment of HIV/AIDS knowledge, attitudes and behaviours among students in higher education in Tanzania. (24088049)
2013
9
Nothing as it seems. Todd's paralysis. (23400673)
2013
10
Pertussis vaccination of health care workers: ACOEM medical center occupational health section task force on pertussis vaccination of health care workers. (24013658)
2013
11
Five-year Prognosis after Mild to Moderate Ischemic Stroke by Stroke Subtype: A Multi-Clinic Registry Study. (24223696)
2013
12
A rational approach to the management of varicocele-associated nonobstructive azoospermia. (21183173)
2011
13
Hybrid palliation in complex congenital heart malformation with duct-dependent isolated pulmonary artery. (19386373)
2011
14
Effect of siRNA-mediated inhibition of nuclear transcription factor-kappa B on apoptosis of hepatocarcinoma cells]. (20825717)
2010
15
Development of enzymatically cleavable prodrugs derived from dendritic polyglycerol. (19553109)
2009
16
Notch1 induces enhanced expression of Delta-like-1 in the U251MG glioma cell line. (19724883)
2009
17
What's new in 2008 in kidney cancer?]. (19447330)
2009
18
Effect of mannitol and hypertonic saline on cerebral oxygenation in patients with severe traumatic brain injury and refractory intracranial hypertension. (19293171)
2009
19
Midterm outcome after microendoscopic decompressive laminotomy for lumbar spinal stenosis: 4-year prospective study. (19574831)
2009
20
Activation of dual oxidases Duox1 and Duox2: differential regulation mediated by camp-dependent protein kinase and protein kinase C-dependent phosphorylation. (19144650)
2009
21
Antihypertensive agents and risk of Parkinson's disease, essential tremor and dementia: a population-based prospective study (NEDICES). (19696520)
2009
22
Human immunodeficiency virus (HIV) infects human arterial smooth muscle cells in vivo and in vitro: implications for the pathogenesis of HIV-mediated vascular disease. (18310503)
2008
23
Design of selective substrates of proteinase 3 using combinatorial chemistry methods. (18445466)
2008
24
TNF-alpha impairs the S-G2/M cell cycle checkpoint and cyclobutane pyrimidine dimer repair in premalignant skin cells: role of the PI3K-Akt pathway. (18273051)
2008
25
Alzheimer's disease: advances in trafficking. (18093545)
2008
26
NF-kappaB is a critical regulator of the survival of rodent and human hepatic myofibroblasts. (18279996)
2008
27
Molecular genetic analysis for the B subgroup revealing two novel alleles in the ABO gene. (18680548)
2008
28
Glomerular and tubular induction of the transcription factor c-Jun in human renal disease. (17891746)
2007
29
Reproductive functions and hypothalamic catecholamines in response to the soil fumigant metam sodium: adaptations to extended exposures. (17258889)
2007
30
Growth inhibition and induction of G1 phase cell cycle arrest in human lung cancer cells by a phenylbutenoid dimer isolated from Zingiber cassumunar. (17666821)
2007
31
The comparative burden of salmonellosis in the European Union member states, associated and candidate countries. (16403230)
2006
32
Recombinant human erythropoietin in oncology: current status and further developments. (15958437)
2005
33
Pellagra: a rare disease observed in a victim of mental and physical abuse. (15577526)
2004
34
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (14564667)
2003
35
Higher order arrangement of the eukaryotic nuclear bodies. (12361981)
2002
36
Regressive effect of intralesional injection of a moderate dose of recombinant interleukin-2 on carcinoma erysipeloides from gastric carcinoma. (11260177)
2001
37
Is alternating hemiplegia of childhood (AHC) a variant of migraine? (11167894)
2000
38
Enhancement of BCG-induced hBD-1 mRNA expression in human pulmonary gland epithelial cells]. (12545809)
2000
39
Differentiation of antitumor-specific cytotoxic T lymphocytes from autologous tumor infiltrating lymphocytes in non-Hodgkin's lymphomas. (10390194)
1999
40
Accurate selection of a 5' splice site requires sequences within fibronectin alternative exon B. (10481035)
1999
41
A risk-benefit assessment of flumazenil in the management of benzodiazepine overdose. (9306053)
1997
42
Presenilin-1 immunoreactivity is localized intracellularly in Alzheimer's disease brain, but not detected in amyloid plaques. (9000444)
1997
43
Membrane association, localization and topology of rat inositol 1,4,5-trisphosphate 3-kinase B: implications for membrane traffic and Ca2+ homoeostasis. (9182721)
1997
44
Helicobacter pylori-associated gastric lymphoma in a girl. (9089746)
1997
45
Rapid desensitization of B-cell receptor by a dithiol-reactive protein tyrosine phosphatase inhibitor: uncoupling of membrane IgM from syk inhibits signals leading to Ca2+ mobilization. (7541023)
1995
46
Improved glucose regulation and microalbuminuria/proteinuria in diabetic patients treated with ACE inhibitors. A meta-analysis of published studies of 1985-1990]. (1411395)
1992
47
Multiple uncommon chromosome abnormalities in acute myelomonocytic leukemia (AMMoL-M4) with rapid progression. (2472320)
1989
48
Laryngeal oedema complicating thyroid lymphoma. (3199019)
1988
49
Pulmonary blastoma. An ultrastructural study of a case and its transplanted tumor in athymic nude mice. (7417940)
1980
50
Intracranial abscess. (4552235)
1972

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
9.5CASP1, 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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Biological processes related to Chronic Recurrent Multifocal Osteomyelitis according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1interleukin-1 beta productionGO:003261110.1CASP1, IL1B
2response to ATPGO:003319810.0CASP1, IL1B
3response to glucocorticoidGO:005138410.0ALPL, IL1B
4positive regulation of interleukin-6 secretionGO:20007789.9IL1B, PYCARD
5positive regulation of interleukin-1 beta secretionGO:00507189.8CASP1, PYCARD
6nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7CASP1, PYCARD
7cellular response to mechanical stimulusGO:00712609.7CASP1, IL1B
8positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7IL1B, PYCARD
9positive regulation of interferon-gamma productionGO:00327299.7IL1B, PYCARD
10stimulatory C-type lectin receptor signaling pathwayGO:00022239.7IL1B, PYCARD
11positive regulation of ERK1 and ERK2 cascadeGO:00703749.6IL1B, PYCARD
12positive regulation of interleukin-6 productionGO:00327559.6IL1B, PYCARD
13positive regulation of apoptotic processGO:00430659.5IL1B, PYCARD
14positive regulation of NF-kappaB transcription factor activityGO:00510929.4IL1B, PYCARD
15cellular response to lipopolysaccharideGO:00712229.4IL1B, PYCARD
16response to lipopolysaccharideGO:00324969.1ALPL, CASP1, IL1B

Sources for Chronic Recurrent Multifocal Osteomyelitis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet