MCID: MLT016
MIFTS: 47

Multicentric Reticulohistiocytosis

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Multicentric Reticulohistiocytosis

MalaCards integrated aliases for Multicentric Reticulohistiocytosis:

Name: Multicentric Reticulohistiocytosis 12 76 53 59 15
Lipoid Dermatoarthritis 12 59 73
Giant Cell Histiocytomatosis 59

Characteristics:

Orphanet epidemiological data:

59
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 50 C27896
SNOMED-CT 68 190801003 84241008
Orphanet 59 ORPHA139436
ICD10 via Orphanet 34 D76.3
UMLS via Orphanet 74 C0311284
UMLS 73 C0311284

Summaries for Multicentric Reticulohistiocytosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Multicentric Reticulohistiocytosis, also known as lipoid dermatoarthritis, is related to granuloma annulare and arthropathy. 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. Affiliated tissues include skin, bone and liver, and related phenotypes are muscle weakness and arthritis

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

Wikipedia : 76 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 99)
# Related Disease Score Top Affiliating Genes
1 granuloma annulare 30.5 F13A1 VIM
2 arthropathy 28.9 TNFRSF11B TNFSF11
3 rheumatoid arthritis 28.1 CSF1 TNFRSF11B TNFSF11
4 angiolipoma 10.4 F13A1 VIM
5 fibrous meningioma 10.4 F13A1 VIM
6 juvenile xanthogranuloma 10.4 F13A1 VIM
7 primitive neuroectodermal tumor of the cervix uteri 10.4 PTPRC VIM
8 villonodular synovitis 10.4 TNFSF11 VIM
9 cutaneous fibrous histiocytoma 10.4 F13A1 VIM
10 arthritis 10.4
11 retroperitoneal fibrosis 10.3 PTPRC VIM
12 hemangiopericytoma, malignant 10.3 F13A1 VIM
13 reticulum cell sarcoma 10.3 PTPRC VIM
14 mucinous cystadenocarcinoma 10.3 PTPRC VIM
15 extraskeletal ewing sarcoma 10.3 PTPRC VIM
16 dendritic cell tumor 10.3 PTPRC VIM
17 rhabdoid cancer 10.3 PTPRC VIM
18 fibrous histiocytoma 10.2 F13A1 VIM
19 dermatofibrosarcoma protuberans 10.2 F13A1 VIM
20 dermatomyositis 10.2
21 mandibular cancer 10.1 CSF1 TNFSF11
22 jaw cancer 10.0 CSF1 TNFSF11
23 joint disorders 10.0 CSF1 TNFSF11
24 cherubism 10.0 CSF1 TNFSF11
25 scleroderma, familial progressive 9.9
26 lymphoma 9.9
27 lepromatous leprosy 9.9
28 melanoma 9.9
29 polyarticular onset juvenile idiopathic arthritis 9.9 TNFRSF11B TNFSF11
30 hemophilic arthropathy 9.9 TNFRSF11B TNFSF11
31 kummell's disease 9.9 TNFRSF11B TNFSF11
32 paget disease of bone 5, juvenile-onset 9.9 TNFRSF11B TNFSF11
33 periodontitis, chronic 9.9 TNFRSF11B TNFSF11
34 chronic apical periodontitis 9.9 TNFRSF11B TNFSF11
35 optic nerve glioma 9.8 TNFRSF11B VIM
36 malignant fibroxanthoma 9.8 F13A1 PTPRC VIM
37 familial expansile osteolysis 9.8 TNFRSF11B TNFSF11
38 multicentric carpotarsal osteolysis syndrome 9.8 TNFRSF11B TNFSF11
39 periapical periodontitis 9.8 TNFRSF11B TNFSF11
40 tooth resorption 9.8 TNFRSF11B TNFSF11
41 spondyloarthropathy 1 9.8
42 biliary cirrhosis, primary, 1 9.8
43 burkitt lymphoma 9.8
44 breast cancer 9.8
45 systemic lupus erythematosus 9.8
46 myositis 9.8
47 ovarian cancer 9.8
48 myelofibrosis 9.8
49 sjogren syndrome 9.8
50 xanthomatosis 9.8

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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
2 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
3 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
4 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
5 histiocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100727
6 skin nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200036

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.73 VIM
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.73 CSF1 TNFSF11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.73 TNFSF11
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.73 TNFSF11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.73 CSF1 TNFSF11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.73 VIM
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.73 CSF1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 CSF1 TNFSF11 VIM
9 Reduced mammosphere formation GR00396-S 8.92 CSF1 F13A1 PTPRC VIM

MGI Mouse Phenotypes related to Multicentric Reticulohistiocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 CSF1 F13A1 PTPRC TNFRSF11B TNFSF11 VIM
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

41
Skin, Bone, Liver, Salivary Gland, Lung, Thyroid, Eye

Publications for Multicentric Reticulohistiocytosis

Articles related to Multicentric Reticulohistiocytosis:

(show top 50) (show all 251)
# Title Authors Year
1
A case of photodistributed multicentric reticulohistiocytosis: correlation with multiphoton microscopy imaging. ( 29697904 )
2018
2
Multicentric reticulohistiocytosis and metastatic colon carcinoma: an uncommon neoplasm recurrence manifestation. ( 29766711 )
2018
3
Multicentric Reticulohistiocytosis: A Multicenter Case Series and Review of Literature. ( 29059085 )
2018
4
Involvement of M2 macrophages in the pathomechanisms of multicentric reticulohistiocytosis. ( 28556889 )
2017
5
Multicentric Reticulohistiocytosis Mimicking Malignancy on 18F-FDG PET/CT. ( 28368895 )
2017
6
Rare case of multicentric reticulohistiocytosis presenting as epidermotropic papular xanthoma and double primary cancers. ( 29277932 )
2017
7
Multicentric reticulohistiocytosis associated with thymic carcinoma. ( 28633354 )
2017
8
Multicentric Reticulohistiocytosis: an Unknown Source of Embolic Stroke. ( 27839900 )
2017
9
Dermoscopic features of periungual papules in multicentric reticulohistiocytosis. ( 28382775 )
2017
10
Multicentric reticulohistiocytosis misdiagnosed as tenosynovial giant cell tumour. ( 28968849 )
2017
11
Multicentric Reticulohistiocytosis with Dermatomyositis-like Eruptions. ( 28768982 )
2017
12
Xanthomatous Multicentric Reticulohistiocytosis: An Underrecognized Variant. ( 29239933 )
2017
13
Looks Can Be Deceiving: A Case Report on Multicentric Reticulohistiocytosis Successfully Treated with Rituximab. ( 28589069 )
2017
14
Multicentric reticulohistiocytosis: Rheumatology perspective. ( 27886798 )
2016
15
Metastatic Inflammatory Breast Cancer Associated With Multicentric Reticulohistiocytosis Successfully Treated With Zoledronic Acid. ( 27435627 )
2016
16
Efficacy of Vinblastine and Prednisone in Multicentric Reticulohistiocytosis With Onset in Infancy. ( 27199388 )
2016
17
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
18
Successful treatment of FKBP51-expressed multicentric reticulohistiocytosis using combination therapy with low-dose denosumab and tacrolimus. ( 26652057 )
2016
19
Multicentric Reticulohistiocytosis: A Unique Case of Chronic Colitis. ( 27580770 )
2016
20
Tumor necrosis factor antagonists in the treatment of multicentric reticulohistiocytosis: Current clinical evidence. ( 27175854 )
2016
21
Nailfold Capillary Patterns in a Patient With Multicentric Reticulohistiocytosis and Raynaud Phenomenon. ( 27219314 )
2016
22
Multicentric Reticulohistiocytosis in a 5-Year-Old Girl. ( 27492868 )
2016
23
Successful Treatment of Multicentric Reticulohistiocytosis with Adalimumab, Prednisolone and Methotrexate. ( 26072967 )
2015
24
18F-FDG PET/CT Findings in Multicentric Reticulohistiocytosis. ( 26571445 )
2015
25
Multicentric Reticulohistiocytosis: A Case Report of an Atypical Presentation in a 2-Year-Old. ( 25727569 )
2015
26
Bilateral Total Hip Arthroplasty in a Rare Case of Multicentric Reticulohistiocytosis. ( 26640636 )
2015
27
Erythema, papules, and arthralgia associated with liver cancer: report of a rare case of multicentric reticulohistiocytosis. ( 26045857 )
2015
28
Multicentric reticulohistiocytosis: a critical review. ( 25900189 )
2015
29
Organizing pneumonia associated with multicentric reticulohistiocytosis. ( 26740877 )
2015
30
A case of multicentric reticulohistiocytosis. ( 25211404 )
2014
31
Multicentric reticulohistiocytosis: case report with response to infliximab and review of treatment options. ( 24733253 )
2014
32
Multicentric reticulohistiocytosis can mimic rheumatoid arthritis. ( 24692603 )
2014
33
Multicentric reticulohistiocytosis. ( 25092372 )
2014
34
Multicentric reticulohistiocytosis misdiagnosed as rheumatoid arthritis. ( 25040783 )
2014
35
Multicentric reticulohistiocytosis: contrasting presentations in 2 Hispanic patients. ( 24897136 )
2014
36
Multicentric reticulohistiocytosis: a rare yet challenging disease. ( 23417597 )
2013
37
Granuloma annulare mimicking multicentric reticulohistiocytosis. ( 24314776 )
2013
38
Hand surgery for Multicentric Reticulohistiocytosis: A new avenue of treatment and review of the literature. ( 23796955 )
2013
39
Multicentric reticulohistiocytosis presenting with papulonodular skin lesions and arthritis mutilans. ( 23555066 )
2013
40
Treatment of multicentric reticulohistiocytosis with tocilizumab. ( 23872542 )
2013
41
The usefulness of the scan with 67Ga-citrate in the multicentric reticulohistiocytosis. ( 23219024 )
2013
42
Multicentric reticulohistiocytosis. ( 22945300 )
2013
43
Multicentric reticulohistiocytosis with extra-mammillary Paget's disease: a case report. ( 24168966 )
2013
44
Treatment of multicentric reticulohistiocytosis with adalimumab, minocycline, methotrexate. ( 23441782 )
2013
45
Treatment of facial lesions of multicentric reticulohistiocytosis by carbon dioxide laser. ( 24163535 )
2013
46
Multicentric reticulohistiocytosis and fibroblastic rheumatism. ( 23040366 )
2012
47
Overexpression of monocyte chemoattractant protein-1 in the overlying epidermis of multicentric reticulohistiocytosis lesions: a case report. ( 22435444 )
2012
48
Multicentric reticulohistiocytosis presenting with the cutaneous features of photosensitivity dermatitis. ( 21545508 )
2012
49
Multicentric reticulohistiocytosis: a unique case with pulmonary fibrosis. ( 22351825 )
2012
50
Progressive multicentric reticulohistiocytosis. ( 22449693 )
2012

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:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.54 CSF1 TNFRSF11B TNFSF11
2 positive regulation of protein kinase activity GO:0045860 9.32 CSF1 PTPRC
3 osteoclast differentiation GO:0030316 9.26 CSF1 TNFSF11
4 cytokine-mediated signaling pathway GO:0019221 9.26 CSF1 F13A1 TNFSF11 VIM
5 positive regulation of osteoclast differentiation GO:0045672 9.16 CSF1 TNFSF11
6 osteoclast proliferation GO:0002158 8.62 CSF1 TNFSF11

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

# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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