MCID: MLT016
MIFTS: 58

Multicentric Reticulohistiocytosis malady

Rare diseases, Bone diseases, Skin diseases categories
Download this MalaCard

Summaries for Multicentric Reticulohistiocytosis

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 arthritis and psoriatic arthritis, and has symptoms including follicular/erythematous/edematous papules/milium, enanthema/aphtosa/aphta/leukoplakia and arthritis/synovitis/synovial proliferation. An important gene associated with Multicentric Reticulohistiocytosis is HAVCR1 (hepatitis A virus cellular receptor 1), and among its related pathways are Osteoclast Signaling and Osteoblast Signaling. The compounds hcc-1 and tartrate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

Disease Ontology:8 A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.

Wikipedia:65 Multicentric reticulohistiocytosis is a multisystem disease beginning usually around the age of 50 years... more...

Aliases & Classifications for Multicentric Reticulohistiocytosis

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Multicentric Reticulohistiocytosis, Aliases & Descriptions:

Name: Multicentric Reticulohistiocytosis 8 42 10 48 62
Lipoid Dermatoarthritis 8 48 62
 
Giant Cell Histiocytomatosis 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
multicentric reticulohistiocytosis:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Any age


External Ids:

Disease Ontology8 DOID:11824
NCIt39 C27896
SNOMED-CT57 190801003, 84241008
ICD10 via Orphanet26 D76.3
ICD1025 M14.3

Related Diseases for Multicentric Reticulohistiocytosis

About this section

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.2TNFSF11, TNF
2psoriatic arthritis29.9TNF, TNFSF11, TNFRSF11B
3ankylosing spondylitis29.9TNF, TNFSF11, TNFRSF11B
4arthropathy29.9TNF, TNFSF11, TNFRSF11B
5rheumatoid arthritis29.6HAVCR1, TNF, TNFSF11, TNFRSF11B, CSF1, CD68
6melanoma29.5TNF, TNFSF11, TNFRSF11B, CSF1, CD68
7osteoarthritis29.3TNF, TNFSF11, TNFRSF11B, CSF1, CD68
8dermatomyositis10.5
9pigmented villonodular synovitis10.4CSF1
10blau syndrome10.4TNF
11malignant histiocytosis10.4CSF1
12skin disease10.4CD68
13periodontitis10.3TNFRSF11B
14granuloma annulare10.3
15lepromatous leprosy10.3
16leprosy10.3
17periapical granuloma10.3TNFSF11
18histiocytosis10.3CD68, HAVCR1
19cutaneous fibrous histiocytoma10.3CD68, HAVCR1
20cherubism10.3TNFSF11
21langerhans-cell histiocytosis10.2CD68, CSF1
22myelofibrosis10.2
23primary biliary cirrhosis10.2
24pulmonary fibrosis10.2
25systemic lupus erythematosus10.2
26hydrarthrosis10.2
27gout10.2
28ganglioneuroma10.2
29nasopharyngitis10.2
30adenocarcinoma10.2
31dermatitis10.2
32lupus erythematosus10.2
33myopathy10.2
34myositis10.2
35neurofibroma10.2
36ovarian cancer10.2
37pericardial effusion10.2
38spondylitis10.2
39thyroiditis10.2
40tuberculosis10.2
41xanthomatosis10.2
42lupus nephritis10.2
43dysphagia10.2
44myotonia10.2
45nephritis10.2
46monocytic leukemia10.0CSF1, TNF
47atopic dermatitis10.0TNF, HAVCR1
48giant cell tumor10.0CSF1, TNFSF11
49hypersensitivity reaction type ii disease10.0CD68, TNF
50paget disease, juvenile10.0TNFSF11, TNFRSF11B

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



Diseases related to multicentric reticulohistiocytosis

Symptoms for Multicentric Reticulohistiocytosis

About this section


Symptoms:

48
  • follicular/erythematous/edematous papules/milium
  • enanthema/aphtosa/aphta/leukoplakia
  • arthritis/synovitis/synovial proliferation
  • muscle weakness/flaccidity
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • fever/chilling

HPO human phenotypes related to Multicentric Reticulohistiocytosis:

(show all 6)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 abnormality of the skin hallmark (90%) HP:0000951
3 arthritis hallmark (90%) HP:0001369
4 muscle weakness occasional (7.5%) HP:0001324
5 decreased body weight occasional (7.5%) HP:0004325
6 abnormality of temperature regulation occasional (7.5%) HP:0004370

Drugs & Therapeutics for Multicentric Reticulohistiocytosis

About this section

Drug clinical trials:

Search ClinicalTrials for Multicentric Reticulohistiocytosis

Search NIH Clinical Center for Multicentric Reticulohistiocytosis

Genetic Tests for Multicentric Reticulohistiocytosis

About this section

Anatomical Context for Multicentric Reticulohistiocytosis

About this section

MalaCards organs/tissues related to Multicentric Reticulohistiocytosis:

32
Skin, Bone, Liver, Lung, Thyroid, Salivary gland, Bone marrow, Eye, Heart, Kidney, Breast, Cervix, Monocytes, T cells

Animal Models for Multicentric Reticulohistiocytosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Multicentric Reticulohistiocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.1CD68, CSF1, TNFSF11, TNF
2MP:00053718.0CSF1, TNFRSF11B, TNFSF11, TNF
3MP:00053827.8TNF, TNFSF11, TNFRSF11B, CSF1
4MP:00053907.5TNF, TNFSF11, TNFRSF11B, CSF1, CD68
5MP:00053977.2CD68, CSF1, TNFRSF11B, TNFSF11, TNF, HAVCR1
6MP:00053877.2HAVCR1, TNF, TNFSF11, TNFRSF11B, CSF1, CD68

Publications for Multicentric Reticulohistiocytosis

About this section

Articles related to Multicentric Reticulohistiocytosis:

(show top 50)    (show all 221)
idTitleAuthorsYear
1
The usefulness of the scan with 67Ga-citrate in the multicentric reticulohistiocytosis. (23219024)
2013
2
Multicentric reticulohistiocytosis presenting with papulonodular skin lesions and arthritis mutilans. (23555066)
2013
3
Multicentric reticulohistiocytosis associated with liver carcinoma: report of a case. (22949898)
2012
4
Multicentric reticulohistiocytosis with elevated cytokine serum levels. (21658110)
2011
5
Multicentric reticulohistiocytosis. (23130232)
2011
6
A case of multicentric reticulohistiocytosis responsive to azathioprine in a patient with no underlying malignancy. (22070706)
2011
7
Paraneoplastic multicentric reticulohistiocytosis: a clinicopathologic challenge. (21508571)
2011
8
Multicentric reticulohistiocytosis successfully treated with infliximab: an illustrative case and evaluation of cytokine expression supporting anti-tumor necrosis factor therapy. (18936400)
2008
9
Multiple pink papules in the setting of arthritis and fever. Multicentric reticulohistiocytosis (MRH). (18936405)
2008
10
Multicentric reticulohistiocytosis: a systemic osteoclastic disease? (18311766)
2008
11
Multicentric reticulohistiocytosis associated with Burkitt lymphoma and adenocarcinoma. (18792542)
2008
12
Multicentric reticulohistiocytosis-mimicking dermatomyositis. Case report and review of the literature. (17377390)
2007
13
Multicentric reticulohistiocytosis with positive anticyclic citrullinated antibodies. (17595939)
2007
14
A case of multicentric reticulohistiocytosis with multiple lytic skull lesions. (16045682)
2005
15
Alleviation of polyarticular syndrome in multicentric reticulohistiocytosis with intravenous zoledronate. (16162909)
2005
16
Refractory multicentric reticulohistiocytosis treated by infliximab: two cases. (15789895)
2005
17
Multicentric reticulohistiocytosis with generalized systemic involvement. (15245533)
2004
18
Multicentric reticulohistiocytosis misdiagnosed as lepromatous leprosy. (15267195)
2003
19
Multicentric reticulohistiocytosis treated successfully with an anti-tumor necrosis factor agent: comment on the article by Gorman et al. (12632456)
2003
20
Multicentric reticulohistiocytosis: a rare cause of erosive arthropathy of the distal interphalangeal finger joints. (12006317)
2002
21
Multicentric reticulohistiocytosis in a 14-year-old girl. (12437557)
2002
22
Multicentric reticulohistiocytosis associated with SjAPgren's syndrome. (10971349)
2000
23
Multicentric reticulohistiocytosis in a child: radiologic findings and clinical correlation. (9879265)
1998
24
Atypical multicentric reticulohistiocytosis. (20921740)
1998
25
A case of multicentric reticulohistiocytosis, systemic sclerosis and SjAPgren syndrome. (9301147)
1997
26
Severe multicentric reticulohistiocytosis: disease stabilization achieved with methotrexate and hydroxychloroquine. (9375893)
1997
27
Upper airway involvement in multicentric reticulohistiocytosis. (8643284)
1996
28
Multicentric reticulohistiocytosis. (8929779)
1996
29
Unusual immunocytochemical and ultrastructural features of synovial fluid cells in multicentric reticulohistiocytosis. A case report. (8042427)
1994
30
Unusual digital nodules. Multicentric reticulohistiocytosis (MRH). (1599279)
1992
31
Close temporal and anatomic relationship between multicentric reticulohistiocytosis and carcinoma of the breast. (1629839)
1992
32
Methotrexate treatment of multicentric reticulohistiocytosis. (2066959)
1991
33
Multicentric reticulohistiocytosis accompanied by oral and temporomandibular joint manifestations. (3025389)
1987
34
A case of multicentric reticulohistiocytosis: uncommon clinical signs and a report of T-cell marker characteristics. (3491619)
1986
35
A case of multicentric reticulohistiocytosis with thyroid involvement. (3771858)
1986
36
A mesothelioma presenting with multicentric reticulohistiocytosis. (3991408)
1985
37
Multicentric reticulohistiocytosis and SjAPgren's syndrome. (4093930)
1985
38
Topical nitrogen mustard therapy in multicentric reticulohistiocytosis. (7061747)
1982
39
Collagen phagocytosis in multicentric reticulohistiocytosis. (7229425)
1981
40
Multicentric reticulohistiocytosis with carcinoma-in-situ of the cervix. (465344)
1979
41
Multicentric reticulohistiocytosis and malignant disease. (204325)
1978
42
Relationship between multicentric reticulohistiocytosis and tuberculosis. (404438)
1977
43
Cardiopulmonary complications in multicentric reticulohistiocytosis. Report of a case. (133639)
1976
44
Multicentric reticulohistiocytosis with ovarian carcinoma. (1273092)
1976
45
Multicentric reticulohistiocytosis (lipoid dermatoarthritis). A multisystem disorder. (5030179)
1972
46
Multicentric reticulohistiocytosis. (5797976)
1969
47
Multicentric reticulohistiocytosis. Report of a case with histochemical studies. (4296608)
1968
48
Myositis and myotonia in a case of multicentric reticulohistiocytosis. (5635595)
1968
49
The nails in multicentric reticulohistiocytosis. (Lipoid dermato-arthritis). (6018996)
1967
50
A STUDY OF MULTICENTRIC RETICULOHISTIOCYTOSIS. (14122094)
1964

Variations for Multicentric Reticulohistiocytosis

About this section

Expression for genes affiliated with Multicentric Reticulohistiocytosis

About this section
Expression patterns in normal tissues for genes affiliated with Multicentric Reticulohistiocytosis

Search GEO for disease gene expression data for Multicentric Reticulohistiocytosis.

Pathways for genes affiliated with Multicentric Reticulohistiocytosis

About this section

Pathways related to Multicentric Reticulohistiocytosis according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TNFSF11, TNFRSF11B
29.3TNFRSF11B, TNFSF11
3
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling60
9.3TNFRSF11B, TNFSF11
49.2CSF1, TNF
59.2TNF, CSF1
69.2CSF1, TNF
79.2CSF1, TNF
8
Show member pathways
Serotonin Transporter Activity37
9.1TNFRSF11B, TNF
9
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
9.1TNFRSF11B, TNF
10
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
9.0TNFSF11, TNF
119.0TNF, TNFSF11
129.0TNFSF11, TNF
138.7CD68, CSF1, TNF
148.6CSF1, TNFSF11, TNF
15
Show member pathways
8.6TNF, TNFSF11, CSF1
16
Show member pathways
8.6TNF, TNFSF11, CSF1
178.5TNF, TNFSF11, TNFRSF11B
18
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
8.5TNFRSF11B, TNFSF11, TNF
19
Show member pathways
8.5TNFRSF11B, TNFSF11, TNF
20
Show member pathways
8.5TNF, TNFSF11, TNFRSF11B
21
Show member pathways
8.1TNF, TNFSF11, TNFRSF11B, CSF1
228.1CSF1, TNFRSF11B, TNFSF11, TNF

Compounds for genes affiliated with Multicentric Reticulohistiocytosis

About this section

Compounds related to Multicentric Reticulohistiocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 94)
idCompoundScoreTop Affiliating Genes
1hcc-1449.8TNFRSF11B, TNFSF11
2tartrate449.8TNFSF11, CSF1
3denosumab44 1110.7TNFSF11, TNFRSF11B
4teriparatide44 1110.7TNFSF11, TNFRSF11B
5polyethylene449.7TNFRSF11B, TNFSF11
6ibandronate44 1110.7TNFSF11, TNFRSF11B
7pamidronate44 50 1111.7TNFSF11, TNFRSF11B
8risedronate44 50 28 61 1113.7TNFSF11, TNFRSF11B
9clodronate44 50 1111.7TNFRSF11B, TNFSF11
10pmma449.6TNFSF11, TNFRSF11B
11geranylgeranyl pyrophosphate449.6TNFRSF11B, TNFSF11
12titanium449.6TNFRSF11B, TNFSF11
13deoxypyridinoline449.6TNFSF11, TNFRSF11B
14zoledronic acid449.5TNFSF11, TNFRSF11B
15anakinra44 1110.5TNF, TNFRSF11B
16alendronate44 50 1111.4TNFRSF11B, TNFSF11
17lenalidomide44 1110.4TNF, TNFSF11
18mip 1alpha449.4TNFSF11, TNF
19vitamin k2449.3TNFRSF11B, CSF1, TNFSF11
20celecoxib44 61 28 50 24 1114.3CSF1, TNFRSF11B, TNFSF11
21gp 130449.3TNFRSF11B, TNFSF11, CSF1
221,25 dihydroxy vitamin d3449.3TNFRSF11B, TNFSF11, CSF1
23gm-csf44 2810.2TNF, CSF1
24leflunomide44 50 1111.2TNF, TNFSF11
25ascorbic acid44 2410.2CSF1, TNFRSF11B, TNFSF11
26budesonide44 50 1111.1CSF1, TNF
27prednisolone44 28 1111.1TNF, TNFRSF11B, CSF1
28tgf beta1449.1CSF1, TNF, TNFRSF11B
29doxorubicin44 50 1111.1TNFSF11, TNFRSF11B, CSF1
30polymyxin b449.0TNF, TNFSF11, TNFRSF11B
31infliximab44 50 1110.9TNFSF11, TNF, TNFRSF11B
32sulfasalazine28 44 50 1111.9TNF, CSF1
33n acetylcysteine448.9TNF, TNFSF11, CSF1
34paraffin448.9CSF1, CD68, TNFSF11
35methotrexate50 44 1110.9TNFRSF11B, TNFSF11, TNF
36pd 98,059448.8CSF1, TNFSF11, TNF
37sb 20358044 619.8TNF, TNFSF11, TNFRSF11B
38ns 39844 619.5TNF, TNFSF11, TNFRSF11B, CSF1
39etanercept44 50 1110.5TNF, CSF1, TNFRSF11B, TNFSF11
40prostaglandin448.5TNFRSF11B, CSF1, TNFSF11, TNF
41calcitriol44 61 24 1111.5TNFRSF11B, TNF, CSF1, TNFSF11
42rantes448.5TNFRSF11B, TNF, CSF1, TNFSF11
43indomethacin44 28 61 1111.5CSF1, TNFRSF11B, TNFSF11, TNF
44ly294002448.5TNF, TNFSF11, CSF1, TNFRSF11B
45genistein44 28 61 2 24 1113.5CSF1, TNFRSF11B, TNFSF11, TNF
46pge2448.5TNFSF11, TNF, CSF1, TNFRSF11B
47cycloheximide448.5CSF1, TNF, TNFSF11, TNFRSF11B
48dexamethasone44 50 28 1111.4TNFSF11, CSF1, TNF, TNFRSF11B
49vegf448.4TNFSF11, CSF1, TNF, TNFRSF11B
50lipid448.1CD68, TNFRSF11B, TNF, TNFSF11

GO Terms for genes affiliated with Multicentric Reticulohistiocytosis

About this section

Cellular components related to Multicentric Reticulohistiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1CSF1, TNFRSF11B, TNFSF11, TNF

Biological processes related to Multicentric Reticulohistiocytosis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1osteoclast proliferationGO:0021589.6TNFSF11, CSF1
2ossificationGO:0015039.5CSF1, TNFSF11
3tumor necrosis factor-mediated signaling pathwayGO:0332099.2TNFSF11, TNF
4positive regulation of MAP kinase activityGO:0434069.2TNFSF11, TNF
5positive regulation of JNK cascadeGO:0463309.1TNF, TNFSF11
6positive regulation of protein kinase B signalingGO:0518979.0TNFSF11, TNF
7positive regulation of NF-kappaB transcription factor activityGO:0510929.0TNFSF11, TNF
8organ morphogenesisGO:0098878.9TNF, TNFSF11
9positive regulation of osteoclast differentiationGO:0456728.8CSF1, TNFSF11, TNF
10osteoclast differentiationGO:0303168.8CSF1, TNFSF11, TNF
11positive regulation of sequence-specific DNA binding transcription factor activityGO:0510918.7TNFSF11, TNF

Molecular functions related to Multicentric Reticulohistiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor receptor bindingGO:0051649.0TNFSF11, TNF
2cytokine activityGO:0051257.8CSF1, TNFRSF11B, TNFSF11, TNF

Products for genes affiliated with Multicentric Reticulohistiocytosis

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Multicentric Reticulohistiocytosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet