RDD
MCID: RSD004
MIFTS: 52

Rosai-Dorfman Disease (RDD)

Categories: Bone diseases, Ear diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rosai-Dorfman Disease

MalaCards integrated aliases for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 53 55
Sinus Histiocytosis with Massive Lymphadenopathy 53 59
Rosaï-Dorfman Disease 53 59
Shml 53 59
Histiocytosis with Joint Contractures and Sensorineural Deafness 73
Destombes-Rosaï-Dorfman Disease 59
Rosaï-Dorfman-Destombes Disease 59
Sinus Histiocytosis 73
Rdd 53

Characteristics:

Orphanet epidemiological data:

59
rosaï-dorfman disease
Age of onset: Adolescent,Adult;

Classifications:



Summaries for Rosai-Dorfman Disease

NIH Rare Diseases : 53 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. Rosai-Dorfman disease is a self-limited and seldom life-threatening disease which commonly does not require therapy.  

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 fever An important gene associated with Rosai-Dorfman Disease is CD163 (CD163 Molecule), and among its related pathways/superpathways are Innate Immune System and 4-1BB Pathway. Affiliated tissues include lymph node, bone and skin, and related phenotypes are seizures and fever

Related Diseases for Rosai-Dorfman Disease

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 histiocytosis 31.2 CD163 MAP2K1 S100B SLC29A3 STAB1
2 langerhans cell histiocytosis 30.9 CD163 MAP2K1 S100B
3 histiocytic sarcoma 30.7 CD163 CR2
4 juvenile xanthogranuloma 30.5 FSCN1 S100B
5 castleman disease 30.1 CR2 CRP
6 histiocytosis-lymphadenopathy plus syndrome 12.5
7 lymphoma 10.7
8 uveitis 10.5
9 igg4-related disease 10.5
10 sarcoma 10.5
11 b-cell lymphomas 10.5
12 panniculitis 10.4
13 diffuse large b-cell lymphoma 10.3
14 hemolytic anemia 10.3
15 rhinoscleroma 10.3
16 melanoma 10.3
17 lupus erythematosus 10.3
18 lymphosarcoma 10.3
19 systemic lupus erythematosus 10.3
20 anemia, autoimmune hemolytic 10.3
21 sjogren syndrome 10.3
22 aceruloplasminemia 10.3
23 leukemia, acute lymphoblastic 10.3
24 myelodysplastic syndrome 10.3
25 arthritis 10.3
26 leukemia 10.3
27 marginal zone b-cell lymphoma 10.3
28 left ventricular noncompaction 10.3
29 nodal marginal zone lymphoma 10.3
30 lymphocytic leukemia 10.3
31 spinal meningioma 10.3
32 lymphoplasmacyte-rich meningioma 10.3
33 interdigitating dendritic cell sarcoma 10.2 CD163 CR2
34 spleen cancer 10.2 CD163 CR2
35 langerhans cell sarcoma 10.2 CD163 CR2
36 liver inflammatory pseudotumor 10.2 CR2 CRP
37 histiocytic and dendritic cell cancer 10.2 CD163 CR2
38 mastoiditis 10.2 CRP SLC29A3
39 adenosquamous gallbladder carcinoma 10.2 CTSD PDGFRA
40 infiltrating lipoma 10.2 CD163 CTSD
41 suppurative otitis media 10.1 CRP SLC29A3
42 breast cancer 10.1
43 hemifacial hyperplasia 10.1
44 melanoma, uveal 10.1
45 retinal detachment 10.1
46 ascites, chylous 10.1
47 lung cancer 10.1
48 factor xii deficiency 10.1
49 lymphoma, hodgkin, classic 10.1
50 mycosis fungoides 10.1

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



Diseases related to Rosai-Dorfman Disease

Symptoms & Phenotypes for Rosai-Dorfman Disease

Human phenotypes related to Rosai-Dorfman Disease:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
3 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
4 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
5 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
6 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
7 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
8 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
9 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034
10 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
11 dysgammaglobulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002961
12 paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010550

UMLS symptoms related to Rosai-Dorfman Disease:


fever

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

26 (show all 38)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 SLC29A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.84 SLC29A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.84 KRAS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.84 CRP KRAS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.84 PDGFRA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.84 SLC29A3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.84 SLC29A3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.84 PDGFRA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.84 CRP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.84 SLC29A3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.84 CRP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.84 KRAS SLC29A3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.84 KRAS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.84 SLC29A3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.84 KRAS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.84 PDGFRA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.84 SLC29A3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.84 KRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.84 PDGFRA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 CRP KRAS PDGFRA SLC29A3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.84 KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.84 CRP KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.84 SLC29A3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.84 PDGFRA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.84 SLC29A3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.84 SLC29A3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.84 KRAS
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.83 S100B
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.83 CTSE S100B
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.83 SLC29A3
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.83 SLC29A3
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.83 CTSD
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.83 CTSD CTSE S100B SLC29A3
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.83 S100B
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.83 CTSE
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.83 CTSE
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.83 S100B
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.83 CTSD

MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 CD163 CR2 CRP CTSD CTSE KRAS
2 immune system MP:0005387 9.61 CD163 CR2 CRP CTSD CTSE FSCN1
3 integument MP:0010771 9.1 CTSD CTSE KRAS MAP2K1 PDGFRA S100B

Drugs & Therapeutics for Rosai-Dorfman Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
2 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Rosai-Dorfman Disease

Genetic Tests for Rosai-Dorfman Disease

Anatomical Context for Rosai-Dorfman Disease

MalaCards organs/tissues related to Rosai-Dorfman Disease:

41
Lymph Node, Bone, Skin, Thyroid, Lung, B Cells, Spinal Cord

Publications for Rosai-Dorfman Disease

Articles related to Rosai-Dorfman Disease:

(show top 50) (show all 1019)
# Title Authors Year
1
Cutaneous Rosai-Dorfman disease of the face with a leonine appearance: successful response to dapsone. ( 29400286 )
2018
2
Retromastoid Approach for Posterior Fossa Skull Base Rosai-Dorfman Disease-A Rare Pathology: 3-Dimensional Operative Video. ( 29788437 )
2018
3
Long-term remission of refractory Rosai-Dorfman disease after salvage therapy with clofarabine in an adult patient. ( 29980874 )
2018
4
Extranodal Rosai-Dorfman Disease Presenting as a Mediastinal Mass with Pulmonary Artery Invasion. ( 29850299 )
2018
5
Castleman Disease and Rosai-Dorfman Disease. ( 29217303 )
2018
6
Rosai-Dorfman Disease: Rare Pulmonary Involvement Mimicking Pulmonary Langerhans Cell Histiocytosis and Review of the Literature. ( 29850355 )
2018
7
Extranodal Rosai-Dorfman Disease With Mucosal Involvement of the Stomach in a Background of Autoimmune Atrophic Gastritis. ( 29720012 )
2018
8
Low-dose weekly methotrexate used to treat cutaneous Rosai-Dorfman disease. ( 29869440 )
2018
9
Bronchial Involvement in Rosai Dorfman Disease. ( 29233361 )
2018
10
Melanoma Mimicking Rosai-Dorfman Disease. ( 29405342 )
2018
11
Spastic Quadriparesis and Communicating Hydrocephalus as Late Sequel of Rosai-Dorfman Disease: A Case Report and Review of Literature. ( 29682050 )
2018
12
Rosai-Dorfman Disease - Five Years Retrospective Analysis from Tertiary Cancer Center. ( 29607816 )
2018
13
<sup>18</sup> F-fluoro-2-deoxyglucose positron emission-computed tomography in a rare cutaneous form of Rosai-Dorfman disease: A case report. ( 29435284 )
2018
14
Successful treatment of disseminated Rosai-Dorfman disease with siltuximab. ( 29599203 )
2018
15
Rosai-Dorfman disease masquerading as Uveal Melanoma: Case report and review of literature. ( 29913127 )
2018
16
Chest wall resection and reconstruction for Rosai-Dorfman disease masquerading as a chest wall sarcoma. ( 29181991 )
2018
17
Isolated Multinodular Soft-Tissue Rosai-Dorfman Disease on FDG PET/CT. ( 29215410 )
2018
18
Rosai-Dorfman Disease: Case Report of an Unusual Testicular Involvement and Review ofA Literature. ( 29666019 )
2018
19
Generalized erythematous and scaly plaques and papules: a rare case of Rosai-Dorfman disease accompanied by multiple myeloma. ( 29924217 )
2018
20
Going Bone Deep: Osseous Rosai-Dorfman Disease in an Adult with Recurrent, Culture-Negative Osteomyelitis. ( 29888015 )
2018
21
BRAF V600E mutation detected in a case of Rosai-Dorfman disease. ( 29748446 )
2018
22
Orbital presentation of Rosai-Dorfman disease. ( 29937156 )
2018
23
A unique combination of Rosai-Dorfman disease and mycosis fungoides: a case report. ( 29854404 )
2018
24
Osseous Rosai-Dorfman Disease Presenting as a Solitary Lesion of the Distal Radius. ( 29678430 )
2018
25
Ophthalmic Findings of Rosai-Dorfman Disease. ( 29428455 )
2018
26
Cutaneous Rosai-Dorfman Disease: A Novel Clinical Presentation. ( 29602416 )
2018
27
Rosai-Dorfman disease: Ultrasonography and histopathology study of a soft tissue mass in the forearm. ( 29606510 )
2018
28
Cataract surgery in a case of Rosai-Dorfman disease with proptosis. ( 30274849 )
2018
29
Rosai-Dorfman Disease Complicated by Autoimmune Hemolytic Anemia in a Child: A Case Report and Review of the Literature. ( 29515411 )
2018
30
Dome-shaped Papules on the Left Flank: A Quiz. Cutaneous Rosai-Dorfman Disease (sinus histiocytosis with massive lymphadenopathy. ( 28795760 )
2018
31
Head and Neck Sinus Histiocytosis with Massive Lymphadenopathy Radiology-Pathology Correlation. ( 29855802 )
2018
32
Case presentation commentary on "Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum." ( 30397865 )
2018
33
Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum. ( 30109595 )
2018
34
Rosai Dorfman disease and peripheral T-cell lymphoma: A rare co-occurrence. ( 30464074 )
2018
35
Cytodiagnosis of Rosai-Dorfman disease masquerading as lymphoma: A case report with brief review of literature. ( 30498323 )
2018
36
Simultaneous Occurrence of Rosai-Dorfman Disease and Nodal Marginal Zone Lymphoma in a Patient with Sjögren's Syndrome. ( 30305966 )
2018
37
Focal Rosai-Dorfman disease coexisting with lymphoma in the same anatomic site: a localized histiocytic proliferation associated with MAPK/ERK pathway activation. ( 30323237 )
2018
38
Rosai-Dorfman Disease Involving Bone Marrow in Association With Acute Myeloid Leukemia. ( 30066590 )
2018
39
Successful treatment of Rosai-Dorfman disease using ALA-PDT. ( 29197644 )
2018
40
A Study on Clinical Characteristics and Magnetic Resonance Imaging Manifestations on Systemic Rosai-Dorfman Disease. ( 29451149 )
2018
41
A quintessential syndrome with a rare marvelling aetiology: Rosai-Dorfman disease presenting as Conus-Cauda syndrome. ( 29455179 )
2018
42
A case report of Rosai-Dorfman disease with kidney involvement. ( 29480236 )
2018
43
Rosai-Dorfman Disease: Rare Presentation as Isolated Mediastinal and Hilar Lymphadenopathy. ( 29531870 )
2018
44
Primary isolated intracranial Rosai-Dorfman disease: Report of a rare case and review of the literature. ( 29709301 )
2018
45
A Case of Cutaneous Rosai-Dorfman Disease. ( 30003792 )
2018
46
Rosai-Dorfman Disease Presenting as Peripheral Vascular Insufficiency. ( 30012448 )
2018
47
BRAF mutation leading to central nervous system rosai-dorfman disease. ( 30014527 )
2018
48
Intracranial Rosai-Dorfman Disease Involving the Cavernous Sinus: A Case Report and Review of the Literature. ( 30099183 )
2018
49
Solitary extranodal Rosai-Dorfman disease of the mandible: an exceedingly rare presentation. ( 30101140 )
2018
50
Recurrent cutaneous Rosai-Dorfman disease. ( 30129525 )
2018

Variations for Rosai-Dorfman Disease

Expression for Rosai-Dorfman Disease

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

Pathways for Rosai-Dorfman Disease

GO Terms for Rosai-Dorfman Disease

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

# Name GO ID Score Top Affiliating Genes
1 acute-phase response GO:0006953 8.96 CD163 CRP
2 cell motility GO:0048870 8.62 FSCN1 MAP2K1

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

# Name GO ID Score Top Affiliating Genes
1 aspartic-type endopeptidase activity GO:0004190 8.96 CTSD CTSE
2 low-density lipoprotein particle binding GO:0030169 8.62 CRP STAB1

Sources for Rosai-Dorfman Disease

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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