MCID: RSD004
MIFTS: 52

Rosai-Dorfman Disease

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

Aliases & Classifications for Rosai-Dorfman Disease

MalaCards integrated aliases for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 53 55 53 59
Sinus Histiocytosis with Massive Lymphadenopathy 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 langerhans cell histiocytosis and juvenile xanthogranuloma, 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 subcutaneous nodule

Wikipedia : 76 Rosai–Dorfman disease, originally known as sinus histiocytosis with massive lymphadenopathy, is a rare... more...

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 langerhans cell histiocytosis 30.6 CD163 MAP2K1 S100B
2 juvenile xanthogranuloma 30.2 FSCN1 S100B
3 castleman disease 30.1 CR2 CRP
4 histiocytosis 28.9 CD163 FSCN1 MAP2K1 S100B SLC29A3 STAB1
5 histiocytosis-lymphadenopathy plus syndrome 12.4
6 adenosquamous gallbladder carcinoma 10.7 CTSD PDGFRA
7 lymphoma 10.5
8 undifferentiated pleomorphic sarcoma 10.5 KRAS PDGFRA
9 lung adenoid cystic carcinoma 10.5 KRAS PDGFRA
10 infiltrating lipoma 10.5 CD163 CTSD
11 cervicitis 10.4
12 interdigitating dendritic cell sarcoma 10.4 CD163 CR2
13 thyroiditis 10.4
14 spleen cancer 10.4 CD163 CR2
15 mastoiditis 10.4 CRP SLC29A3
16 langerhans cell sarcoma 10.4 CD163 CR2
17 meningitis 10.4
18 reticular perineurioma 10.4 PDGFRA S100B
19 acneiform dermatitis 10.4 KRAS MAP2K1
20 histiocytic and dendritic cell cancer 10.4 CD163 CR2
21 uveitis 10.4
22 syringocystadenoma papilliferum 10.4 KRAS S100B
23 aggressive digital papillary adenocarcinoma 10.3 KRAS S100B
24 laryngitis 10.3
25 mediastinitis 10.3
26 igg4-related disease 10.3
27 sarcoma 10.3
28 suppurative otitis media 10.3 CRP SLC29A3
29 b-cell lymphomas 10.3
30 adenosquamous cell lung carcinoma 10.3 KRAS PDGFRA
31 cutaneous fibrous histiocytoma 10.3 CD163 S100B
32 sinusitis 10.2
33 liver inflammatory pseudotumor 10.2 CR2 CRP
34 diffuse large b-cell lymphoma 10.2
35 rhinoscleroma 10.2
36 melanoma 10.2
37 pulmonic stenosis 10.1 KRAS MAP2K1
38 histiocytic sarcoma 10.1
39 arthritis 10.1
40 cerebritis 10.1
41 salmonellosis 10.1
42 petroclival meningioma 10.1
43 panniculitis 10.1
44 hemolytic anemia 10.1
45 aceruloplasminemia 10.1
46 hepatitis 10.1
47 lymphoblastic leukemia 10.1
48 systemic lupus erythematosus 10.1
49 leukemia, acute lymphoblastic 10.1
50 leukemia 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 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
3 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
5 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
6 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
7 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
8 dysgammaglobulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002961
9 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
10 paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010550
11 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
12 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034

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 KRAS CRP
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 SLC29A3 KRAS PDGFRA CRP
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 KRAS CRP
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 S100B CTSE
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 SLC29A3 S100B CTSD CTSE
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 KRAS MAP2K1 PDGFRA S100B STAB1 CD163
2 immune system MP:0005387 9.61 KRAS PDGFRA SLC29A3 CD163 CR2 CRP
3 integument MP:0010771 9.1 KRAS MAP2K1 PDGFRA S100B CTSD CTSE

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, Spinal Cord, B Cells, Kidney

Publications for Rosai-Dorfman Disease

Articles related to Rosai-Dorfman Disease:

(show top 50) (show all 683)
# 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
A Study on Clinical Characteristics and Magnetic Resonance Imaging Manifestations on Systemic Rosai-Dorfman Disease. ( 29451149 )
2018
29
Primary isolated intracranial Rosai-Dorfman disease: Report of a rare case and review of the literature. ( 29709301 )
2018
30
Rosai-Dorfman Disease. ( 29319260 )
2017
31
A fatal case of Rosai-Dorfman disease. ( 28781868 )
2017
32
Cutaneous Rosai-Dorfman Disease. ( 28859745 )
2017
33
Primary Rosai-Dorfman disease of the femur. ( 27785544 )
2017
34
Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. ( 28664935 )
2017
35
Isolated intracranial Rosai-Dorfman disease mimicking petroclival meningioma in a child: Case report and review of the literature. ( 29381971 )
2017
36
Primary intraosseous Rosai-Dorfman disease: Long-term follow-up with recurrence after surgical excision. ( 28937393 )
2017
37
Recurrent intracranial Rosai-Dorfman disease: Management of a challenging case. ( 28761538 )
2017
38
Extra-Axial Mass in the Foramen Magnum Causing Cervical Compressive Myelopathy as a Complication of Rosai-Dorfman Disease. ( 28748682 )
2017
39
Review of Rosai-Dorfman Disease: New Insights into the Pathogenesis of This Rare Disorder. ( 28614806 )
2017
40
Thyroid involvement by Rosai-Dorfman disease. ( 29056254 )
2017
41
Rosai-Dorfman Disease with Activating KRAS Mutation - Response to Cobimetinib. ( 29236635 )
2017
42
Atypical Primary Cutaneous Rosai Dorfman Disease: A Case Report. ( 28639453 )
2017
43
Rosai-Dorfman Disease Manifesting as a Pancreatic Head Mass Diagnosed Nonoperatively. ( 27997302 )
2017
44
Systemic Rosai-Dorfman disease with central nervous system involvement. ( 28881164 )
2017
45
Membranoproliferative glomerulonephritis associated with Rosai-Dorfman disease. ( 29043148 )
2017
46
Image Gallery: Metachronic occurrence of primary cutaneous marginal zone B-cell lymphoma and primary cutaneous Rosai-Dorfman disease in the same patient. ( 29313941 )
2017
47
Cystoid macular oedema associated with Rosai-Dorfman disease: a case report. ( 28806938 )
2017
48
Choroid plexus involvement in Rosai-Dorfman disease. ( 28084291 )
2017
49
Laryngeal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy): A Retrospective Study of 5 Cases. ( 28770226 )
2017
50
Disseminated cutaneous Mycobacterium kansasii infection presenting with Rosai-Dorfman disease-like histological features in a patient carrying anti-interferon-I^ autoantibodies. ( 28836691 )
2017

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

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 CRP CTSD CTSE FSCN1 KRAS MAP2K1
2
Show member pathways
12.3 CR2 KRAS MAP2K1 PDGFRA
3 12.03 FSCN1 KRAS MAP2K1 PDGFRA
4
Show member pathways
11.87 KRAS MAP2K1 PDGFRA
5 11.76 CTSD KRAS MAP2K1
6
Show member pathways
11.72 CTSD KRAS MAP2K1
7 11.68 CTSD KRAS MAP2K1
8 11.59 KRAS MAP2K1 PDGFRA
9
Show member pathways
11.52 KRAS MAP2K1 PDGFRA
10 11.44 KRAS MAP2K1 PDGFRA
11 11.08 KRAS MAP2K1
12
Show member pathways
11 CRP MAP2K1
13 10.94 KRAS MAP2K1 PDGFRA
14 10.8 KRAS MAP2K1
15 10.42 KRAS MAP2K1 PDGFRA

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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