MCID: MLT016
MIFTS: 46

Multicentric Reticulohistiocytosis malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Multicentric Reticulohistiocytosis

Aliases & Descriptions for Multicentric Reticulohistiocytosis:

Name: Multicentric Reticulohistiocytosis 12 50 56 14
Lipoid Dermatoarthritis 12 56 69
Giant Cell Histiocytomatosis 56

Characteristics:

Orphanet epidemiological data:

56
multicentric reticulohistiocytosis
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:11824
ICD10 33 E78.81 M14.3
NCIt 47 C27896
SNOMED-CT 64 190801003 84241008
Orphanet 56 ORPHA139436
ICD10 via Orphanet 34 D76.3
UMLS 69 C0311284

Summaries for Multicentric Reticulohistiocytosis

NIH Rare Diseases : 50 multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. the disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). in the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome. last updated: 9/28/2012

MalaCards based summary : Multicentric Reticulohistiocytosis, also known as lipoid dermatoarthritis, is related to rheumatoid arthritis and arthritis, and has symptoms including cachexia, fever and muscle weakness. An important gene associated with Multicentric Reticulohistiocytosis is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Methotrexate and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and hematopoietic system

Disease Ontology : 12 A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.

Wikipedia : 71 Multicentric reticulohistiocytosis is a multisystem disease beginning usually around the age of 50... more...

Related Diseases for Multicentric Reticulohistiocytosis

Diseases related to Multicentric Reticulohistiocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
id Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 29.5 CSF1 TNFRSF11B TNFSF11
2 arthritis 10.3
3 congenital myasthenic syndrome 10.2 F13A1 VIM
4 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 10.2 F13A1 VIM
5 hematologic cancer 10.2 F13A1 VIM
6 cavernous sinus meningioma 10.2 F13A1 VIM
7 dyslexia 10.2 F13A1 VIM
8 hinman syndrome 10.2 PTPRC VIM
9 diarrhea, chronic, with villous atrophy 10.2 F13A1 VIM
10 ribbing disease 10.2 PTPRC VIM
11 appendix mucinous cystadenocarcinoma 10.2 PTPRC VIM
12 caroli disease 10.2 F13A1 VIM
13 omodysplasia 2 10.2 PTPRC VIM
14 congenital muscular dystrophy with hyperlaxity 10.2 PTPRC VIM
15 juvenile xanthogranuloma 10.2 F13A1 VIM
16 lung benign neoplasm 10.1 PTPRC VIM
17 desmoid tumor 10.1 PTPRC VIM
18 neutrophil immunodeficiency syndrome 10.1 F13A1 VIM
19 kidney benign neoplasm 10.1 PTPRC VIM
20 diabetes persistent mullerian ducts 10.1 PTPRC VIM
21 central nervous system hemangioma 10.1 TNFRSF11B VIM
22 phka2-related phosphorylase kinase deficiency 10.1 TNFRSF11B TNFSF11
23 birk-barel mental retardation dysmorphism syndrome 10.1 TNFRSF11B TNFSF11
24 osteopetrosis, autosomal recessive 7 10.1 TNFRSF11B TNFSF11
25 hepatic fibrosis renal cysts mental retardation 10.1 TNFRSF11B TNFSF11
26 epilepsy, idiopathic generalized 14 10.1 TNFRSF11B TNFSF11
27 pulmonary immaturity 10.1 F13A1 PTPRC
28 peripheral scars of retina 10.1 TNFRSF11B TNFSF11
29 polyomavirus allograft nephropathy 10.1 TNFRSF11B TNFSF11
30 microcephaly 10, primary, autosomal recessive 10.1 TNFRSF11B TNFSF11
31 maroteaux stanescu cousin syndrome 10.1 TNFRSF11B TNFSF11
32 bronchus cancer 10.1 TNFRSF11B TNFSF11
33 bulbomembranous urethral cancer 10.1 TNFRSF11B TNFSF11
34 dermatomyositis 10.1
35 acrorenal syndrome 10.1 TNFRSF11B TNFSF11
36 glossitis 10.1 TNFRSF11B TNFSF11
37 chromosomal disease 10.1 TNFRSF11B TNFSF11
38 post-traumatic stress disorder 10.0 TNFRSF11B TNFSF11
39 celiac disease 10.0 TNFRSF11B TNFSF11
40 dysbaric osteonecrosis 10.0 TNFRSF11B TNFSF11
41 dentin dysplasia with sclerotic bones 10.0 CSF1 F13A1
42 ischemic bone disease 10.0 TNFRSF11B TNFSF11
43 plasma protein metabolism disease 10.0 CSF1 TNFSF11
44 vascular dementia 10.0 TNFRSF11B TNFSF11
45 impotence 10.0 CSF1 TNFSF11
46 intrahepatic cholestasis 10.0 TNFRSF11B TNFSF11
47 keratoconus 10.0 CSF1 TNFSF11
48 developmental coordination disorder 10.0 PTPRC TNFSF11 VIM
49 ceroid lipofuscinosis, neuronal, kufs type, adult onset 10.0 TNFRSF11B TNFSF11
50 fungal gastritis 9.9 TNFRSF11B TNFSF11

Graphical network of the top 20 diseases related to Multicentric Reticulohistiocytosis:



Diseases related to Multicentric Reticulohistiocytosis

Symptoms & Phenotypes for Multicentric Reticulohistiocytosis

Human phenotypes related to Multicentric Reticulohistiocytosis:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Occasional (29-5%) HP:0004326
2 fever 56 32 Occasional (29-5%) HP:0001945
3 muscle weakness 56 32 Occasional (29-5%) HP:0001324
4 arthritis 56 32 Very frequent (99-80%) HP:0001369
5 skin nodule 56 32 Very frequent (99-80%) HP:0200036
6 histiocytosis 56 32 Very frequent (99-80%) HP:0100727

GenomeRNAi Phenotypes related to Multicentric Reticulohistiocytosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 CSF1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.44 VIM
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.44 TNFSF11 CSF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.44 TNFSF11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.44 TNFSF11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.44 TNFSF11 CSF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.44 VIM
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.44 CSF1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.44 VIM CSF1 TNFSF11

MGI Mouse Phenotypes related to Multicentric Reticulohistiocytosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 F13A1 PTPRC TNFRSF11B TNFSF11 VIM CSF1
2 immune system MP:0005387 9.55 CSF1 PTPRC TNFRSF11B TNFSF11 VIM
3 mortality/aging MP:0010768 9.43 CSF1 F13A1 PTPRC TNFRSF11B TNFSF11 VIM
4 respiratory system MP:0005388 9.02 CSF1 F13A1 PTPRC TNFSF11 VIM

Drugs & Therapeutics for Multicentric Reticulohistiocytosis

Drugs for Multicentric Reticulohistiocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
2
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
3
Vinblastine Approved Phase 3 865-21-4 13342 241903
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
5
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
6 6-Mercaptopurine Phase 3
7 Anti-Inflammatory Agents Phase 3
8 Antimetabolites Phase 3
9 Antimetabolites, Antineoplastic Phase 3
10 Antimitotic Agents Phase 3
11 Antineoplastic Agents, Hormonal Phase 3
12 Antineoplastic Agents, Phytogenic Phase 3
13 Antirheumatic Agents Phase 3
14 Dermatologic Agents Phase 3
15 Folic Acid Antagonists Phase 3
16 glucocorticoids Phase 3
17 Hormone Antagonists Phase 3
18 Hormones Phase 3
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
20 Immunosuppressive Agents Phase 3
21 Nucleic Acid Synthesis Inhibitors Phase 3
22 Vitamin B Complex Phase 3
23 Folate Nutraceutical Phase 3
24 Vitamin B9 Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 H-9926-LCH III: Treatment Protocol of the Third International Study for Langerhans Cell Histiocytosis Completed NCT00488605 Phase 3
2 Prospective Evaluation of Adult Pulmonary Langerhans Cell Histiocytosis Completed NCT01225601
3 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Multicentric Reticulohistiocytosis

Genetic Tests for Multicentric Reticulohistiocytosis

Anatomical Context for Multicentric Reticulohistiocytosis

MalaCards organs/tissues related to Multicentric Reticulohistiocytosis:

39
Skin, Bone, Liver, Lung, Thyroid, Salivary Gland, Bone Marrow

Publications for Multicentric Reticulohistiocytosis

Articles related to Multicentric Reticulohistiocytosis:

(show top 50) (show all 239)
id Title Authors Year
1
Multicentric Reticulohistiocytosis: an Unknown Source of Embolic Stroke. ( 27839900 )
2017
2
Multicentric Reticulohistiocytosis: A Unique Case of Chronic Colitis. ( 27580770 )
2016
3
Metastatic Inflammatory Breast Cancer Associated With Multicentric Reticulohistiocytosis Successfully Treated With Zoledronic Acid. ( 27435627 )
2016
4
Tumor necrosis factor antagonists in the treatment of multicentric reticulohistiocytosis: Current clinical evidence. ( 27175854 )
2016
5
Efficacy of Vinblastine and Prednisone in Multicentric Reticulohistiocytosis With Onset in Infancy. ( 27199388 )
2016
6
Successful treatment of FKBP51-expressed multicentric reticulohistiocytosis using combination therapy with low-dose denosumab and tacrolimus. ( 26652057 )
2016
7
Nailfold Capillary Patterns in a Patient With Multicentric Reticulohistiocytosis and Raynaud Phenomenon. ( 27219314 )
2016
8
Multicentric Reticulohistiocytosis in a 5-Year-Old Girl. ( 27492868 )
2016
9
Multicentric reticulohistiocytosis: Rheumatology perspective. ( 27886798 )
2016
10
Multicentric reticulohistiocytosis (MRH): case report with review of literature between 1991 and 2014 with in depth analysis of various treatment regimens and outcomes. ( 27026876 )
2016
11
18F-FDG PET/CT Findings in Multicentric Reticulohistiocytosis. ( 26571445 )
2015
12
Multicentric Reticulohistiocytosis: A Case Report of an Atypical Presentation in a 2-Year-Old. ( 25727569 )
2015
13
Organizing pneumonia associated with multicentric reticulohistiocytosis. ( 26740877 )
2015
14
Multicentric reticulohistiocytosis: a critical review. ( 25900189 )
2015
15
Bilateral Total Hip Arthroplasty in a Rare Case of Multicentric Reticulohistiocytosis. ( 26640636 )
2015
16
Erythema, papules, and arthralgia associated with liver cancer: report of a rare case of multicentric reticulohistiocytosis. ( 26045857 )
2015
17
Successful Treatment of Multicentric Reticulohistiocytosis with Adalimumab, Prednisolone and Methotrexate. ( 26072967 )
2015
18
Multicentric reticulohistiocytosis can mimic rheumatoid arthritis. ( 24692603 )
2014
19
A case of multicentric reticulohistiocytosis. ( 25211404 )
2014
20
Multicentric reticulohistiocytosis: case report with response to infliximab and review of treatment options. ( 24733253 )
2014
21
Multicentric reticulohistiocytosis. ( 25092372 )
2014
22
Multicentric reticulohistiocytosis: contrasting presentations in 2 Hispanic patients. ( 24897136 )
2014
23
Multicentric reticulohistiocytosis misdiagnosed as rheumatoid arthritis. ( 25040783 )
2014
24
Granuloma annulare mimicking multicentric reticulohistiocytosis. ( 24314776 )
2013
25
Hand surgery for Multicentric Reticulohistiocytosis: A new avenue of treatment and review of the literature. ( 23796955 )
2013
26
Multicentric reticulohistiocytosis presenting with papulonodular skin lesions and arthritis mutilans. ( 23555066 )
2013
27
Treatment of multicentric reticulohistiocytosis with adalimumab, minocycline, methotrexate. ( 23441782 )
2013
28
Treatment of multicentric reticulohistiocytosis with tocilizumab. ( 23872542 )
2013
29
Multicentric reticulohistiocytosis: a rare yet challenging disease. ( 23417597 )
2013
30
The usefulness of the scan with 67Ga-citrate in the multicentric reticulohistiocytosis. ( 23219024 )
2013
31
Treatment of facial lesions of multicentric reticulohistiocytosis by carbon dioxide laser. ( 24163535 )
2013
32
Multicentric reticulohistiocytosis with extra-mammillary Paget's disease: a case report. ( 24168966 )
2013
33
Multicentric reticulohistiocytosis. ( 22945300 )
2013
34
Leonine facies in the cutaneous form of multicentric reticulohistiocytosis. ( 22864143 )
2012
35
Multicentric reticulohistiocytosis associated with liver carcinoma: report of a case. ( 22949898 )
2012
36
Multicentric reticulohistiocytosis presenting with the cutaneous features of photosensitivity dermatitis. ( 21545508 )
2012
37
Multicentric reticulohistiocytosis masquerading as dermatomyositis: similar and different features. ( 21950771 )
2012
38
Multicentric reticulohistiocytosis and fibroblastic rheumatism. ( 23040366 )
2012
39
Resident rounds. Part III: Multicentric reticulohistiocytosis presenting as granuloma annulare. ( 23547330 )
2012
40
Multicentric reticulohistiocytosis: a unique case with pulmonary fibrosis. ( 22351825 )
2012
41
Overexpression of monocyte chemoattractant protein-1 in the overlying epidermis of multicentric reticulohistiocytosis lesions: a case report. ( 22435444 )
2012
42
Progressive multicentric reticulohistiocytosis. ( 22449693 )
2012
43
Multicentric reticulohistiocytosis: a rare case report. ( 22837570 )
2012
44
Multicentric reticulohistiocytosis with dermatomyositis-like features: a more common disease presentation than previously thought. ( 21252485 )
2011
45
Multicentric reticulohistiocytosis. ( 23130232 )
2011
46
Multicentric reticulohistiocytosis associated arthritis responding to anti-TNF and methotrexate. ( 21485770 )
2011
47
Malignancy-associated multicentric reticulohistiocytosis. ( 20012625 )
2011
48
Ultraviolet light-induced KAPbner phenomenon contributes to the development of skin eruptions in multicentric reticulohistiocytosis. ( 21279300 )
2011
49
Multicentric reticulohistiocytosis with elevated cytokine serum levels. ( 21658110 )
2011
50
A case of multicentric reticulohistiocytosis responsive to azathioprine in a patient with no underlying malignancy. ( 22070706 )
2011

Variations for Multicentric Reticulohistiocytosis

Expression for Multicentric Reticulohistiocytosis

Search GEO for disease gene expression data for Multicentric Reticulohistiocytosis.

Pathways for Multicentric Reticulohistiocytosis

GO Terms for Multicentric Reticulohistiocytosis

Biological processes related to Multicentric Reticulohistiocytosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase activity GO:0045860 9.26 CSF1 PTPRC
2 osteoclast differentiation GO:0030316 9.16 CSF1 TNFSF11
3 positive regulation of osteoclast differentiation GO:0045672 8.96 CSF1 TNFSF11
4 osteoclast proliferation GO:0002158 8.62 CSF1 TNFSF11

Molecular functions related to Multicentric Reticulohistiocytosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CSF1 TNFRSF11B TNFSF11

Sources for Multicentric Reticulohistiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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