MCID: RSD004
MIFTS: 53

Rosai-Dorfman Disease malady

Rare diseases, Bone diseases, Immune diseases, Ear diseases categories

Aliases & Classifications for Rosai-Dorfman Disease

About this section
Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Rosai-Dorfman Disease, Aliases & Descriptions:

Name: Rosai-Dorfman Disease 41 43
Sinus Histiocytosis with Massive Lymphadenopathy 41 47
Destombes-Rosaï-Dorfman Disease 41 47
Rosaï-Dorfman-Destombes Disease 41 47
Rosaï-Dorfman Disease 41 47
 
Shml 41 47
Histiocytosis with Joint Contractures and Sensorineural Deafness 60
Sinus Histiocytosis 60
Rdd 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
sinus histiocytosis with massive lymphadenopathy:
Age of onset: Adolescent,Adult


External Ids:

Orphanet47 158014
ICD10 via Orphanet26 D76.3

Summaries for Rosai-Dorfman Disease

About this section


NIH Rare Diseases:41 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 and langerhans-cell histiocytosis, and has symptoms including muscle weakness, anemia and lymphadenopathy. An important gene associated with Rosai-Dorfman Disease is SLC29A3 (solute carrier family 29 (equilibrative nucleoside transporter), member 3), and among its related pathways are Jak/Stat Pathway and PDGFR-alpha signaling pathway. The compounds iron sucrose and nh4cl have been mentioned in the context of this disorder. Affiliated tissues include lymph node, bone and breast, and related mouse phenotypes are hematopoietic system and immune system.

Related Diseases for Rosai-Dorfman Disease

About this section

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

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis31.8SLC29A3, FSCN1, STAB1, S100B, CD163
2langerhans-cell histiocytosis31.6S100B, S100A1
3juvenile xanthogranuloma31.4S100B, FSCN1
4sarcoma30.8S100B, S100A1, PDGFRA, FSCN1, CD163
5neurofibromatosis30.6S100B, PDGFRA
6amyloidosis30.6SERPINA3, CTSD, CRP
7breast cancer30.5SERPINA3, CTSD, S100A1, FSCN1
8tuberculosis30.4SRF, CTSD, CRP
9arthritis30.3SRF, SERPINA3, CRP, ALPP, CD163
10systemic lupus erythematosus30.3F3, ALPP, SRF, CRP
11leukemia30.2PDGFRA, ALPP, SERPINA3, SRF, CTSD
12melanoma30.0FSCN1, SERPINA3, SRF, PDGFRA, S100A1, S100B
13lung cancer29.9FSCN1, SRF, PDGFRA, ALPP, S100A1, SERPINA3
14liver cirrhosis29.7F3, SERPINA3, TF, ALPP, CTSD
15cervicitis10.7
16thyroiditis10.7
17meningitis10.6
18mediastinitis10.6
19uveitis10.6
20laryngitis10.5
21perineurioma10.5S100B
22glomus tumor10.5S100A1
23histiocytosis-lymphadenopathy plus syndrome10.5
24b-cell lymphomas10.5
25sinusitis10.5
26rhinoscleroma10.5
27malignant histiocytosis10.5SERPINA3
28chondroma10.5PDGFRA
29cutaneous fibrous histiocytoma10.4S100A1, S100B
30syringoma10.4S100B, S100A1
31subacute thyroiditis10.4
32myelodysplastic syndrome10.4
33cerebellar ataxia10.4
34diffuse large b-cell lymphoma10.4
35hemolytic anemia10.4
36lymphoplasmacyte-rich meningioma10.4
37cerebritis10.4
38lupus erythematosus10.4
39lymphoblastic leukemia10.4
40panniculitis10.4
41ataxia10.4
42histiocytic sarcoma10.4
43myoepithelioma10.4S100A1, S100B
44dermatofibrosarcoma protuberans10.4S100B, S100A1
45granular cell tumor10.4S100A1, S100B
46hemangiopericytoma10.4S100B, S100A1
47malignant mixed mullerian tumor10.4S100B, S100A1
48breast cyst10.4CTSD, SERPINA3
49alzheimer disease-210.4CTSD, SERPINA3
50smooth muscle tumor10.4S100A1, S100B

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



Diseases related to rosai-dorfman disease

Symptoms for Rosai-Dorfman Disease

About this section

Symptoms:

 47 (show all 7)
  • lymphadenopathy/polyadenopathies
  • muscle weakness/flaccidity
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • anaemia
  • fever/chilling
  • follicular/erythematous/edematous papules/milium
  • subcutaneous nodules/lipomas/tumefaction/swelling

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

Drugs & Therapeutics for Rosai-Dorfman Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Rosai-Dorfman Disease

Search NIH Clinical Center for Rosai-Dorfman Disease

Genetic Tests for Rosai-Dorfman Disease

About this section

Anatomical Context for Rosai-Dorfman Disease

About this section

MalaCards organs/tissues related to Rosai-Dorfman Disease:

31
Lymph node, Bone, Breast, Skin, Spinal cord, Thyroid, Kidney, Lung, Colon, B cells, Bone marrow, Liver, Pancreas, Testis, Thymus, Trachea, Neutrophil, Eye, Brain, Heart, Salivary gland, Ovary, Prostate, Testes, Hypothalamus, Appendix, Pituitary

Animal Models for Rosai-Dorfman Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2SLC29A3, CTSD, PDGFRA, SRF, F3, TF
2MP:00053877.8FSCN1, F3, SRF, PDGFRA, CRP, CTSD
3MP:00053697.8F3, STAB1, SRF, PDGFRA, S100A1
4MP:00053857.5F3, STAB1, SRF, PDGFRA, CRP, S100A1
5MP:00028737.2S100B, F3, STAB1, SRF, ALPP, PDGFRA
6MP:00053767.1TF, F3, STAB1, SRF, PDGFRA, CRP
7MP:00107687.1TF, F3, STAB1, SRF, ALPP, PDGFRA

Publications for Rosai-Dorfman Disease

About this section

Articles related to Rosai-Dorfman Disease:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Rosai-Dorfman Disease Involving the Ear and Lateral Skull Base. (25675314)
2015
2
Cutaneous rosai-dorfman disease: a case report and a review of the literature. (25812620)
2015
3
Orbital Rosai-Dorfman Disease in a fifty-eight years old woman. (24353690)
2013
4
Emperipolesis is not pathognomonic for Rosai-Dorfman disease: rhinoscleroma mimicking Rosai-Dorfman disease, a clinical series. (24238175)
2013
5
Fine-needle aspiration of primary Rosai-Dorfman disease of the bone without peripheral lymphadenopathy: a challenging diagnosis. (22021127)
2013
6
Rosai-Dorfman disease presenting with extensive cutaneous manifestation - case report. (23739703)
2013
7
Rare coexistence of Rosai-Dorfman disease and nodal marginal zone lymphoma complicated by severe life-threatening autoimmune hemolytic anemia. (23270580)
2013
8
Steroid-resistant extranodal rosai-dorfman disease of cheek mass and ptosis treated with radiation therapy. (23738161)
2013
9
Rosai-dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: third reported occurrence. (22864941)
2012
10
Cutaneous Rosai-Dorfman disease: a case report. (23217947)
2012
11
A case of rosai-dorfman disease with highly elevated serum ferritin. (22389884)
2012
12
Rosai-Dorfman disease presenting as multiple breast masses in an otherwise asymptomatic male patient. (22137724)
2012
13
Fine needle aspiration diagnosis of Rosai-Dorfman Disease involving thyroid. (22438629)
2012
14
Rosai-Dorfman disease presenting as a thoracic intradural extramedullary spinal tumor but without extraspinal manifestations. (21959966)
2012
15
Sinus histiocytosis with massive lymphadenopathy Rosai-Dorfman disease: a unique case presentation. (21906971)
2011
16
Rosai-Dorfman disease--perianaesthetic concerns. (20593637)
2010
17
Intracranial Rosai Dorfman Disease: report of three cases and literature review. (22028755)
2010
18
Primary Rosai-Dorfman disease of bone: a clinicopathologic study of 15 cases. (20679880)
2010
19
Rosai-Dorfman disease. (21103807)
2010
20
Extranodal Rosai-Dorfman disease of bone and nose: a case report and review of literature. (23596759)
2010
21
Extranodal Rosai-Dorfman disease of the kidney. (19139612)
2009
22
Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: second case report. (19020944)
2009
23
Rosai-Dorfman disease: sinus histiocytosis with massive lymphadenopathy. (21686390)
2009
24
Rosai-Dorfman disease of lung: a case report and review of the literatures. (19493405)
2009
25
Rosai-Dorfman disease: a case with lymphadenopathy and liver involvement. (19262248)
2009
26
Rosai-Dorfman disease causing spinal cord compression: case report. (18496169)
2008
27
Extranodal Rosai-Dorfman disease with multilevel lumbar spinal lesions. (18590411)
2008
28
Cutaneous Rosai-Dorfman disease. (18627744)
2008
29
A rare case of extranodal Rosai-Dorfman disease. (16980664)
2006
30
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) treated with 2-chlorodeoxyadenosine. (16302214)
2006
31
Rosai-Dorfman disease presenting as bilateral eyelid swellings. (16484848)
2006
32
Rosai-Dorfman disease mimicking a sphenoid wing meningioma. (15805669)
2005
33
Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease): evidence for a dendritic cell derivation? (16761737)
2005
34
Nasal and paranasal sinus manifestation of Rosai-Dorfman disease. (16218519)
2005
35
Isolated Rosai Dorfman disease of the central nervous system presenting as dural-based and intraparenchymal lesions. (15943162)
2005
36
Sinus histocytosis with massive lymphadenopathy (Rosai-Dorfman disease) in a patient with primary Sjogren's syndrome. (15163114)
2004
37
Extranodal sinus histiocytosis (Rosai-Dorfman disease) of the brain parenchyma. (12601463)
2003
38
Hypoesthesia in the inferior alveolar nerve as the unique clinical manifestation of Rosai-Dorfman disease. (12524619)
2003
39
Cutaneous rosai-dorfman disease is a distinct clinical entity. (12357197)
2002
40
Cutaneous sinus histiocytosis (Rosai-Dorfman disease) presenting clinically as vasculitis. (12004323)
2002
41
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of two cases with fine-needle aspiration cytology. (11135468)
2001
42
Rosai-Dorfman disease mimicking parasagittal meningioma: case presentation and review of literature. (10874144)
2000
43
Rosai dorfman disease - an unusual presentation: A case report. (23119695)
2000
44
Cutaneous Rosai-Dorfman disease--a pathologic review of 2 cases. (11063196)
2000
45
Importance of Papanicolaou-stained smears and immunocytochemistry in the diagnosis of Rosai-Dorfman disease. (10097737)
1999
46
Nasal manifestation of extranodal Rosai-Dorfman disease--diagnosis and management. (10435144)
1999
47
Review of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) of head and neck. (10579239)
1999
48
Immunohistologic findings and adhesion molecule pattern in primary pure cutaneous Rosai-Dorfman disease with xanthomatous features. (9700380)
1998
49
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
50
Monokine expression in Langerhans' cell histiocytosis and sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) (8691347)
1996

Variations for Rosai-Dorfman Disease

About this section

Clinvar genetic disease variations for Rosai-Dorfman Disease:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC29A3NM_018344.5(SLC29A3): c.1228C> T (p.Gln410Ter)single nucleotide variantPathogenicGRCh37Chr 10, 73122165: 73122165
2SLC29A3NM_018344.5(SLC29A3): c.300+1G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 73082812: 73082812
3SLC29A3NM_018344.5(SLC29A3): c.1088G> A (p.Arg363Gln)single nucleotide variantPathogenicrs387907066GRCh37Chr 10, 73122025: 73122025
4SLC29A3NM_018344.5(SLC29A3): c.1087C> T (p.Arg363Trp)single nucleotide variantPathogenicrs387907067GRCh37Chr 10, 73122024: 73122024
5SLC29A3NM_018344.5(SLC29A3): c.1157G> A (p.Arg386Gln)single nucleotide variantPathogenicrs397515429GRCh37Chr 10, 73122094: 73122094
6SLC29A3NM_018344.5(SLC29A3): c.607T> C (p.Ser203Pro)single nucleotide variantPathogenicrs397514626GRCh37Chr 10, 73111542: 73111542
7SLC29A3NM_018344.5(SLC29A3): c.1279G> A (p.Gly427Ser)single nucleotide variantPathogenicrs121912583GRCh37Chr 10, 73122216: 73122216
8SLC29A3NM_018344.5(SLC29A3): c.1330G> T (p.Glu444Ter)single nucleotide variantPathogenicrs267607056GRCh37Chr 10, 73122267: 73122267
9SLC29A3NM_018344.5(SLC29A3): c.1309G> A (p.Gly437Arg)single nucleotide variantPathogenicrs121912584GRCh37Chr 10, 73122246: 73122246
10SLC29A3NM_018344.5(SLC29A3): c.347T> G (p.Met116Arg)single nucleotide variantPathogenicrs267607057GRCh37Chr 10, 73104012: 73104012
11SLC29A3NM_018344.5(SLC29A3): c.1346C> G (p.Thr449Arg)single nucleotide variantPathogenicrs267607058GRCh37Chr 10, 73122283: 73122283

Expression for genes affiliated with Rosai-Dorfman Disease

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

Pathways for genes affiliated with Rosai-Dorfman Disease

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
9.8CRP, SERPINA3
29.4PDGFRA, SRF

Compounds for genes affiliated with Rosai-Dorfman Disease

About this section

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

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1iron sucrose4310.1CRP, TF
2nh4cl439.9TF, CTSD, CRP
3phosphoethanolamine439.8CRP, ALPP
4betacarotene439.8CRP, TF, SERPINA3
5silver439.7SERPINA3, CTSD, S100A1
6guanidine hydrochloride439.6F3, ALPP, SERPINA3
7p003439.6CTSD, S100B, CRP
8alpha tocopherol439.6CRP, TF, CTSD
9citrate439.6F3, CRP, S100B, TF
10cyclophosphamide43 49 1211.5TF, CTSD, F3, CRP
11b 723439.5S100B, S100A1, ALPP
12polyethylene glycol439.4TF, ALPP, CRP
13vitamin b12439.4SERPINA3, TF, ALPP, CRP
14polysulfone439.3F3, CRP, SRF
15nocodazole43 1210.2CTSD, SRF, TF
16sialic acid439.2TF, S100B, SRF, SERPINA3
17biotin43 24 1211.1S100A1, TF, CRP
18ascorbic acid43 2410.1TF, CRP, S100B, ALPP, CTSD
19folate439.1SERPINA3, TF, ALPP, PDGFRA, CRP
20vitamin a43 24 1211.0SRF, TF, SERPINA3, CRP
21methotrexate49 43 1211.0SERPINA3, SRF, TF, CRP
22homocysteine43 2410.0F3, SRF, CRP
23latex438.9CTSD, SRF, CRP, ALPP
24phospholipid438.8F3, SRF, S100B, S100A1
25fibrinogen438.7SRF, TF, SERPINA3, F3, CRP
26thymidine43 249.7CTSD, S100B, PDGFRA, ALPP, SRF
27cysteine438.7SERPINA3, F3, CTSD, ALPP, S100B, S100A1
28progesterone43 28 59 24 1212.6SERPINA3, CTSD, S100B, S100A1, SRF
29cyclosporin a43 28 5910.6TF, SRF, ALPP, S100B, CTSD
30acetylcholine43 49 28 24 1212.6SERPINA3, S100A1, SRF, S100B, CRP
31norepinephrine43 24 1210.6TF, ALPP, CRP, S100B, SRF
32nadph43 249.5S100B, SRF, SERPINA3, CTSD
33zinc43 249.5S100A1, SRF, SERPINA3, CTSD, S100B
34testosterone43 59 24 1211.5CTSD, CRP, SRF, S100B, ALPP
35aspartate438.5TF, F3, ALPP, CRP, S100B, CTSD
36cycloheximide438.5CTSD, F3, SRF, ALPP, CRP
37dexamethasone43 49 28 1211.4CD163, S100B, SERPINA3, ALPP, SRF
38heparin43 28 24 1211.4F3, CTSD, S100B, ALPP, SRF, SERPINA3
39glutamate438.4ALPP, S100B, CTSD, SRF, TF
40lactate438.3CRP, TF, SRF, ALPP, CTSD, S100B
41cholesterol43 28 24 1211.3TF, SRF, SERPINA3, CTSD, CRP, ALPP
42serine437.9CTSD, ALPP, SRF, S100B, SERPINA3, F3
43iron43 248.9CD163, TF, SERPINA3, SRF, S100B, CRP
44creatinine437.7S100B, F3, CTSD, CRP, ALPP, SRF
45alanine437.7CTSD, S100B, CRP, ALPP, SRF, F3
46vegf437.7PDGFRA, CRP, TF, F3, CTSD, S100B
47estrogen437.6SRF, S100B, TF, CTSD, SERPINA3, S100A1
48paraffin437.6CTSD, S100B, CD163, S100A1, PDGFRA, ALPP
49retinoic acid43 248.2CTSD, S100B, PDGFRA, ALPP, F3, FSCN1
50calcium43 49 24 129.7S100B, CRP, CTSD, CD163, PDGFRA, S100A1

GO Terms for genes affiliated with Rosai-Dorfman Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.9CTSD, S100B, CRP, F3, TF
2extracellular regionGO:00055768.2CTSD, TF, SERPINA3, CRP, S100B, CD163

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:00550039.4PDGFRA, SRF
2acute-phase responseGO:00069539.1CD163, CRP, SERPINA3

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

idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle bindingGO:00301699.5CRP, STAB1
2S100 protein bindingGO:00445489.4S100B, S100A1
3protein homodimerization activityGO:00428038.1SRF, PDGFRA, CRP, S100A1, S100B
4protein bindingGO:00055155.5CTSD, TF, SERPINA3, FSCN1, F3, STAB1

Products for genes affiliated with Rosai-Dorfman Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Rosai-Dorfman Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet