MCID: RSD004
MIFTS: 40

Rosai-Dorfman Disease malady

Categories: Rare diseases, Immune diseases, Ear diseases

Aliases & Classifications for Rosai-Dorfman Disease

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Sources:
66UMLS, 46NIH Rare Diseases, 48Novoseek, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 46 48
Sinus Histiocytosis with Massive Lymphadenopathy 46 52
Rosaï-Dorfman Disease 46 52
Shml 46 52
Histiocytosis with Joint Contractures and Sensorineural Deafness 66
 
Destombes-Rosaï-Dorfman Disease 52
Rosaï-Dorfman-Destombes Disease 52
Sinus Histiocytosis 66
Rdd 46

Characteristics:

Orphanet epidemiological data:

52
sinus histiocytosis with massive lymphadenopathy:
Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet52 ORPHA158014
ICD10 via Orphanet29 D76.3

Summaries for Rosai-Dorfman Disease

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NIH Rare Diseases:46 Rosai-dorfman disease was first described by rosai and dorfman in 1969. it is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical). other lymph node groups may also be involved and, in some cases, abnormal accumulation of histiocytes may occur in other areas of the body (extranodal). the cause of this condition remains unknown, although altered immune responses and infectious agents may play a role. shml is a self-limited and seldom life-threatening disease which commonly does not require therapy.   last updated: 7/22/2013

MalaCards based summary: Rosai-Dorfman Disease, also known as sinus histiocytosis with massive lymphadenopathy, is related to histiocytosis-lymphadenopathy plus syndrome and histiocytosis, and has symptoms including muscle weakness, anemia and lymphadenopathy. An important gene associated with Rosai-Dorfman Disease is CD163 (CD163 Molecule). Affiliated tissues include lymph node, breast and bone, and related mouse phenotype immune system.

Related Diseases for Rosai-Dorfman Disease

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Diseases related to Rosai-Dorfman Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis-lymphadenopathy plus syndrome11.9
2histiocytosis10.9
3lymphoma10.6
4cervicitis10.5
5thyroiditis10.5
6meningitis10.5
7langerhans-cell histiocytosis10.4
8dental abscess10.4CRP, SLC29A3
9uveitis10.4
10laryngitis10.4
11mediastinitis10.4
12igg4-related disease10.4
13hepatic vein thrombosis10.3CRP, SLC29A3
14sarcoma10.3
15b-cell lymphomas10.3
16sinusitis10.3
17rhinoscleroma10.3
18juvenile xanthogranuloma10.3
19chronic apical periodontitis10.2CD163, CRP
20pancreatic intraductal papillary-mucinous adenoma10.2CD163, CR2
21lumbosacral lipoma10.2CD163, CTSD
22malignant type ab thymoma10.2CD163, CR2
23systemic lupus erythematosus10.2
24myelodysplastic syndrome10.2
25cerebellar ataxia10.2
26arthritis10.2
27diffuse large b-cell lymphoma10.2
28hemolytic anemia10.2
29leukemia10.2
30lymphoblastic leukemia10.2
31panniculitis10.2
32cerebritis10.2
33lymphoplasmacyte-rich meningioma10.2
34lupus erythematosus10.2
35ataxia10.2
36histiocytic sarcoma10.2
37adenosquamous bile duct carcinoma10.1CD163, CR2
38neutrophil immunodeficiency syndrome10.1CD163, PDGFRA
39pemphigus10.1CR2, CRP
40angioma hereditary neurocutaneous10.1CR2, CRP
41loeffler syndrome10.1CRP, PDGFRA
42pulmonary systemic sclerosis10.1CD163, CRP
43carotid artery thrombosis10.0CD163, SLC29A3, STAB1
44lung cancer10.0
45breast cancer10.0
46factor xii deficiency10.0
47autoimmune lymphoproliferative syndrome10.0
48granuloma annulare10.0
49hemangioma10.0
50hepatitis10.0

Graphical network of the top 20 diseases related to Rosai-Dorfman Disease:



Diseases related to rosai-dorfman disease

Symptoms for Rosai-Dorfman Disease

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Symptoms:

 52 (show all 12)
  • seizures
  • subcutaneous nodule
  • anemia
  • fever
  • headache
  • lymphadenopathy
  • osteolysis
  • dysgammaglobulinemia
  • paresthesia
  • paraplegia
  • erythema
  • papule

HPO human phenotypes related to Rosai-Dorfman Disease:

(show all 6)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 anemia hallmark (90%) HP:0001903
3 lymphadenopathy hallmark (90%) HP:0002716
4 abnormality of temperature regulation hallmark (90%) HP:0004370
5 abnormal immunoglobulin level hallmark (90%) HP:0010701
6 abnormality of the skin occasional (7.5%) HP:0000951

UMLS symptoms related to Rosai-Dorfman Disease:


hepatomegaly

Drugs & Therapeutics for Rosai-Dorfman Disease

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Interventional clinical trials:

idNameStatusNCT IDPhase
1International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Rosai-Dorfman Disease

Genetic Tests for Rosai-Dorfman Disease

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Anatomical Context for Rosai-Dorfman Disease

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MalaCards organs/tissues related to Rosai-Dorfman Disease:

34
Lymph node, Breast, Bone, Skin, Spinal cord, Thyroid, Kidney

Animal Models for Rosai-Dorfman Disease or affiliated genes

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MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.5CR2, CRP, CTSD, CTSE, FSCN1, PDGFRA

Publications for Rosai-Dorfman Disease

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Articles related to Rosai-Dorfman Disease:

(show top 50)    (show all 585)
idTitleAuthorsYear
1
Tracheobronchial Involvement of Rosai-Dorfman Disease: Case Report and Review of the Literature. (26886634)
2016
2
Management Strategies in Rosai-Dorfman Disease: To Do or Not To Do. (26907652)
2016
3
Multiple aneurysms and Rosai-Dorfman disease: association or coincidence? (26396129)
2015
4
Rosai-Dorfman Disease Involving the Ear and Lateral Skull Base. (25675314)
2015
5
A lethal intracranial Rosai-Dorfman disease of the brainstem diagnosed at autopsy. (26184902)
2015
6
A Case of Cutaneous Rosai-Dorfman Disease with underlying calvarial involvement and absence of BRAF(V600E) mutation. (26858984)
2015
7
Cutaneous rosai-dorfman disease: a case report and a review of the literature. (25812620)
2015
8
Rosai-Dorfman disease involving the central nervous system: seven cases from one institute. (26210482)
2015
9
A single case of rosai-dorfman disease marked by pathologic fractures, kidney failure, and liver cirrhosis treated with single-agent cladribine. (25401088)
2014
10
Rosai-Dorfman disease: Unusual presentation and diagnosis by fine-needle aspiration cytology. (25358849)
2014
11
Fine-needle aspiration of primary Rosai-Dorfman disease of the bone without peripheral lymphadenopathy: a challenging diagnosis. (22021127)
2013
12
Rosai-Dorfman disease presenting with extensive cutaneous manifestation - case report. (23739703)
2013
13
Steroid-resistant extranodal rosai-dorfman disease of cheek mass and ptosis treated with radiation therapy. (23738161)
2013
14
Cytomorphological and morphometric analysis of 22 cases of Rosai-Dorfman disease: a large series from a tertiary care centre. (24192148)
2013
15
Purely Cutaneous Rosai-Dorfman disease (CRDD) co-existed with capillary hemangioma successfully treated with intralesional corticosteroid. (24164002)
2013
16
Cutaneous Rosai-Dorfman disease: a case report. (23217947)
2012
17
Fine needle aspiration diagnosis of Rosai-Dorfman Disease involving thyroid. (22438629)
2012
18
Coexistence of Langerhans cell histiocytosis, Rosai-Dorfman disease and splenic lymphoma with fatal outcome after rapid development of histiocytic sarcoma of the liver. (23043641)
2012
19
Sinus histiocytosis with massive lymphadenopathy Rosai-Dorfman disease: a unique case presentation. (21906971)
2011
20
Rosai-Dorfman disease--perianaesthetic concerns. (20593637)
2010
21
Extranodal Rosai-Dorfman disease of bone and nose: a case report and review of literature. (23596759)
2010
22
Extranodal rosai-dorfman disease presenting as incidental bone tumor: a case report. (21623425)
2010
23
Extranodal Rosai-Dorfman disease of the kidney. (19139612)
2009
24
Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: second case report. (19020944)
2009
25
Rosai-Dorfman disease of lung: a case report and review of the literatures. (19493405)
2009
26
Rosai-Dorfman disease manifesting as intracranial and intraorbital lesion. (19020807)
2009
27
Rosai-Dorfman disease causing spinal cord compression: case report. (18496169)
2008
28
Extranodal Rosai-Dorfman disease with multilevel lumbar spinal lesions. (18590411)
2008
29
Cutaneous Rosai-Dorfman disease. (18627744)
2008
30
Rosai Dorfman disease--a rare entity report of two cases with nodal and extranodal involvement. (18988397)
2008
31
Rosai-Dorfman disease presenting as bilateral eyelid swellings. (16484848)
2006
32
Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease): evidence for a dendritic cell derivation? (16761737)
2005
33
Isolated Rosai Dorfman disease of the central nervous system presenting as dural-based and intraparenchymal lesions. (15943162)
2005
34
Spinal cord compression as a result of Rosai-Dorfman disease of the upper cervical spine in a child. (15650889)
2005
35
Fine-needle aspiration cytology of Rosai-Dorfman disease. (15349995)
2004
36
Extranodal sinus histiocytosis (Rosai-Dorfman disease) of the brain parenchyma. (12601463)
2003
37
Is there a true association between Rosai-Dorfman disease and malignancy? (14632828)
2003
38
Rosai-Dorfman disease presenting in the gastrointestinal tract. (12562257)
2003
39
Cutaneous rosai-dorfman disease is a distinct clinical entity. (12357197)
2002
40
Extranodal Rosai-Dorfman disease involving the meninges. (12356124)
2002
41
Cutaneous Rosai-Dorfman disease preceding inguinal lymphadenopathy. (12121554)
2002
42
Test and teach. Diagnosis: Subcutaneous Rosai-Dorfman disease. (12408348)
2002
43
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of two cases with fine-needle aspiration cytology. (11135468)
2001
44
Rosai dorfman disease - an unusual presentation: A case report. (23119695)
2000
45
Cutaneous Rosai-Dorfman disease--a pathologic review of 2 cases. (11063196)
2000
46
Importance of Papanicolaou-stained smears and immunocytochemistry in the diagnosis of Rosai-Dorfman disease. (10097737)
1999
47
Nasal manifestation of extranodal Rosai-Dorfman disease--diagnosis and management. (10435144)
1999
48
Pathological case of the month. Multifocal Rosai-Dorfman disease of soft tissue. (10555727)
1999
49
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). (9725535)
1998
50
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997

Variations for Rosai-Dorfman Disease

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Expression for genes affiliated with Rosai-Dorfman Disease

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Search GEO for disease gene expression data for Rosai-Dorfman Disease.

Pathways for genes affiliated with Rosai-Dorfman Disease

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GO Terms for genes affiliated with Rosai-Dorfman Disease

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Cellular components related to Rosai-Dorfman Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.5CD163, STAB1

Biological processes related to Rosai-Dorfman Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein catabolic processGO:00301639.5CTSD, CTSE
2acute-phase responseGO:00069539.5CD163, CRP

Molecular functions related to Rosai-Dorfman Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle bindingGO:00301699.6CRP, STAB1
2scavenger receptor activityGO:00050449.5CD163, STAB1
3aspartic-type endopeptidase activityGO:00041909.2CTSD, CTSE

Sources for Rosai-Dorfman Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet