RDD
MCID: RSD004
MIFTS: 49

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 20 58 54
Sinus Histiocytosis with Massive Lymphadenopathy 20 58
Shml 20 58
Histiocytosis with Joint Contractures and Sensorineural Deafness 70
Destombes-Rosai-Dorfman Disease 58
Rosai-Dorfman-Destombes Disease 58
Rosaï-Dorfman Disease 20
Sinus Histiocytosis 70
Rdd 20

Characteristics:

Orphanet epidemiological data:

58
rosai-dorfman disease
Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Rosai-Dorfman Disease

GARD : 20 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 polyclonal hypergammaglobulinemia and 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 Cytokine Signaling in Immune system. Affiliated tissues include lymph node, spinal cord and bone marrow, and related phenotypes are fever and anemia

Wikipedia : 73 Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as... 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 389)
# Related Disease Score Top Affiliating Genes
1 polyclonal hypergammaglobulinemia 31.1 SLC29A3 CRP
2 histiocytosis 30.9 STAB1 SLC29A3 S100B MAP2K1 CD163 BRAF
3 langerhans cell histiocytosis 30.9 S100B MAP2K1 FSCN1 CD163 BRAF
4 juvenile xanthogranuloma 30.6 S100B FSCN1 BRAF
5 rare tumor 30.5 FSCN1 CR2
6 inflammatory myofibroblastic tumor 30.4 S100B CR2 CCND1
7 adult xanthogranuloma 30.2 CR2 CD163
8 melanoma, uveal 29.9 S100B MAP2K1 CCND1 BRAF
9 dermatofibrosarcoma protuberans 29.9 S100B PDGFRA CD163
10 sarcoma 29.9 S100B PDGFRA KRAS CCND1 BRAF
11 castleman disease 29.8 S100B FSCN1 CRP CR2
12 ewing sarcoma 29.5 S100B PDGFRA KRAS CCND1
13 rhabdomyosarcoma 29.4 S100B PDGFRA MAP2K1 KRAS CCND1
14 histiocytosis-lymphadenopathy plus syndrome 11.9
15 meningioma, familial 10.9
16 intracranial meningioma 10.9
17 secretory meningioma 10.9
18 lymphoplasmacyte-rich meningioma 10.9
19 posttransplant acute limbic encephalitis 10.8
20 exophthalmos 10.8
21 lymphoproliferative syndrome 10.7
22 non-langerhans-cell histiocytosis 10.7
23 igg4-related disease 10.6
24 uveitis 10.6
25 lymphoma 10.6
26 erdheim-chester disease 10.6
27 hemolytic anemia 10.5
28 b-cell lymphoma 10.5
29 rhinoscleroma 10.5
30 lymphoma, hodgkin, classic 10.5
31 splenomegaly 10.5
32 anemia, autoimmune hemolytic 10.4
33 exanthem 10.4
34 melanoma 10.4
35 spindle cell sarcoma 10.4
36 fibrous histiocytoma 10.4
37 iridocyclitis 10.4
38 ataxia and polyneuropathy, adult-onset 10.4
39 deficiency anemia 10.4
40 diffuse large b-cell lymphoma 10.4
41 marginal zone b-cell lymphoma 10.4
42 ptosis 10.4
43 osteomyelitis 10.4
44 mastitis 10.4
45 lymphadenitis 10.4
46 paraplegia 10.4
47 orbital disease 10.4
48 autoimmune disease 10.3
49 retinal detachment 10.3
50 yemenite deaf-blind hypopigmentation syndrome 10.3

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
2 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
3 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
4 dysgammaglobulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002961
5 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
6 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
7 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
8 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
9 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
10 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
11 paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010550
12 seizure 31 occasional (7.5%) HP:0001250
13 seizures 58 Occasional (29-5%)

UMLS symptoms related to Rosai-Dorfman Disease:


fever

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 SLC29A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.78 SLC29A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.78 CRP KRAS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.78 PDGFRA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.78 SLC29A3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.78 PDGFRA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.78 CRP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.78 CRP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.78 SLC29A3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 CRP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.78 PDGFRA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.78 SLC29A3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.78 SLC29A3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.78 PDGFRA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.78 SLC29A3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.78 PDGFRA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.78 PDGFRA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.78 SLC29A3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.78 KRAS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.78 PDGFRA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 PDGFRA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 CRP KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.78 SLC29A3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.78 PDGFRA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.78 SLC29A3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.78 SLC29A3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.78 PDGFRA

MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 BRAF CCND1 CD163 CR2 CRP CTSD
2 hematopoietic system MP:0005397 10.1 BRAF CCND1 CD163 CR2 CTSD CTSE
3 immune system MP:0005387 10.06 BRAF CCND1 CD163 CR2 CRP CTSD
4 integument MP:0010771 9.91 BRAF CCND1 CTSD CTSE FSCN1 KRAS
5 neoplasm MP:0002006 9.63 BRAF CCND1 KRAS MAP2K1 PDGFRA SLC29A3
6 normal MP:0002873 9.56 BRAF CCND1 KRAS MAP2K1 PDGFRA S100B
7 respiratory system MP:0005388 9.17 BRAF CCND1 CD163 FSCN1 KRAS PDGFRA

Drugs & Therapeutics for Rosai-Dorfman Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical, Structural, and Functional Neuroimaging Study of Cognition in Adults With Erdheim-Chester Disease, Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Other Histiocytoses Recruiting NCT03127709

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:

40
Lymph Node, Spinal Cord, Bone Marrow, Pancreas, Trachea, Colon, Testis

Publications for Rosai-Dorfman Disease

Articles related to Rosai-Dorfman Disease:

(show top 50) (show all 1518)
# Title Authors PMID Year
1
Extranodal Rosai-Dorfman disease with multifocal bone and epidural involvement causing recurrent spinal cord compression. 61 54
16211443 2005
2
Expression of CD163 (hemoglobin scavenger receptor) in normal tissues, lymphomas, carcinomas, and sarcomas is largely restricted to the monocyte/macrophage lineage. 54 61
15832085 2005
3
CD163: a specific marker of macrophages in paraffin-embedded tissue samples. 54 61
15491976 2004
4
May 2003: 57-year-old-woman with acute loss of strength in her right upper extremity and slurred speech. 61 54
14655768 2003
5
Cathepsin D and E co-expression in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and Langerhans' cell histiocytosis: further evidences of a phenotypic overlap between these histiocytic disorders. 54 61
8055153 1994
6
Malignant behaviour of primary intracranial Rosai Dorfman disease: A rare presentation of a benign disease. 61
33276004 2021
7
Rosai-Dorfman disease of the pancreas: Cytologic analysis of three cases presenting as pancreatic masses. 61
33058558 2021
8
Musculoskeletal imaging features of non-Langerhans cell histiocytoses. 61
33787962 2021
9
The utility of fine needle aspiration cytology in orbital haematolymphoid neoplasms. 61
33125778 2021
10
Rosai-Dorfman disease with infiltration of IgG4-bearing plasma cells presenting as laryngeal-nasal masses and cervical lymphadenopathy: A case report. 61
33761691 2021
11
Long-term Management of Panuveitis and Choroidal Mass Associated with Rosai Dorfman Disease with Pegylated Interferon. 61
33683183 2021
12
"Role Of Stereotactic Radiosurgery In Intracranial Histiocytosis: A Systematic Review Of Literature Of An Emerging Modality For Localized Disease". 61
33744421 2021
13
Histiocytosis and Neoplasms of Macrophage-Dendritic Cell Lineages: Multimodality Imaging with Emphasis on PET/CT. 61
33606566 2021
14
Ocular Adnexal MALT Lymphoma in Association With Rosai-Dorfman Disease in a Child. 61
33710034 2021
15
[Dysplastic Cerebellar Gangliocytoma(Lhermitte-Duclos Disease)]. 61
33762463 2021
16
Histiocytic Diseases of Neonates: Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Juvenile Xanthogranuloma. 61
33583503 2021
17
Dermoscopy and reflectance confocal microscopy for the diagnosis of generalized pure cutaneous Rosai-Dorfman disease. 61
32812293 2021
18
Rosai-Dorfman Disease in Cervical Lymph Nodes: The Challenges of Diagnosis in a Resource Limited Setting and Use of Immunohistochemistry in the Diagnosis. 61
33766573 2021
19
[Rosai-Dorfman disease as a rare cause of a pancreatic mass]. 61
33306139 2021
20
Rosai-Dorfman Disease: A Rare Clinicopathological Presentation and Review of the Literature. 61
32504287 2021
21
Correction to: MR imaging of cerebral involvement of Rosai-Dorfman disease: a single-centre experience with review of the literature. 61
32809174 2021
22
Rare case of extranodal Rosai-Dorfman disease presenting as a middle cranial fossa tumour. 61
33653869 2021
23
Extranodal multifocal Rosai-Dorfman disease of the breast: A case report. 61
33171367 2021
24
Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease. 61
33284430 2021
25
Pregnant patient with extranodal CNS Rosai-Dorfman disease with new-onset seizures: the conundrum of differentiating disease progression from eclampsia. 61
33602767 2021
26
MRI features of intra-axial histiocytic brain mass lesions. 61
33077156 2021
27
Autopsy case of Rosai-Dorfman disease presenting as fibrinous pericarditis. 61
33227653 2021
28
Cutaneous Rosai-Dorfman disease: a challenging diagnosis. 61
33541998 2021
29
Osseous Rosai-Dorfman disease of tibia in children: A case report. 61
33644210 2021
30
Treating Rosai-Dorfman disease and RAS-associated autoimmune leucoproliferative disorder with malignant transformation. 61
33238033 2021
31
Rosai-Dorfman Disease of the Talus in a Child: A Case Report. 61
33690806 2021
32
Extended treatment response to imatinib in Rosai-Dorfman disease. 61
33619765 2021
33
Rosai-Dorfman disease with corneal anaesthesia: case report and review of literature. 61
32702306 2021
34
Isolated extranodal Rosai-Dorfman disease of the orbit in an elderly male. 61
31971052 2021
35
Rosai-Dorfman disease extending to the brain. 61
33433316 2021
36
MR imaging of cerebral involvement of Rosai-Dorfman disease: a single-centre experience with review of the literature. 61
32458270 2021
37
Potential role of 18F-FDG PET/CT in a case of progressive Rosai Dorfman disease. 61
33392352 2021
38
Diagnosis and treatment of Rosai-Dorfman disease of the spine: a systematic literature review. 61
33461611 2021
39
KRAS 117N positive Rosai-Dorfman disease with atypical features. 61
32974961 2021
40
Cytologic and histological features of rare nonepithelial and nonlymphoid tumors of the thyroid. 61
33493367 2021
41
Rosai-Dorfman Disease Displays a Unique Monocyte-Macrophage Phenotype Characterized by Expression of OCT2. 61
33177341 2021
42
Highlights of the Management of Adult Histiocytic Disorders: Langerhans Cell Histiocytosis, Erdheim-Chester Disease, Rosai-Dorfman Disease, and Hemophagocytic Lymphohistiocytosis. 61
32943371 2021
43
Case of Generalized Tumor-Type Rosai-Dorfman Disease With Sarcoidosis-Like Histological Features and IgG4-Positive Plasma Cells. 61
33337631 2021
44
[Systemic Rosai-Dorfman-Destombes disease associated with a myelodysplastic syndrome. Efficacy of hematologic treatment]. 61
33485702 2021
45
Primary Cutaneous Rosai-Dorfman Disease of the Scalp. 61
33354400 2021
46
An extremely rare case of Rosai-Dorfman disease in the spleen. 61
33407333 2021
47
Rosai-Dorfman disease diagnosed by fine needle aspiration. 61
32539230 2021
48
Adult Orbital Lesions in Saudi Arabia: A Multi-centered Demographic Study with Clinicopathological Correlation. 61
32959608 2020
49
Emperipolesis of lymphocytes by mesothelial cells in pleural effusion involved by T-lymphoblastic lymphoma. 61
32621636 2020
50
Rosai-Dorfman disease masquerading as Uveal Melanoma: Case report and review of literature. 61
29913127 2020

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 top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 S100B PDGFRA MAP2K1 KRAS FSCN1 CTSE
2
Show member pathways
13.27 PDGFRA MAP2K1 KRAS FSCN1 CCND1 BRAF
3
Show member pathways
12.79 PDGFRA MAP2K1 KRAS CCND1 BRAF
4
Show member pathways
12.76 PDGFRA MAP2K1 KRAS CCND1 BRAF
5
Show member pathways
12.75 PDGFRA MAP2K1 KRAS BRAF
6 12.7 PDGFRA MAP2K1 KRAS CCND1 BRAF
7 12.56 PDGFRA MAP2K1 KRAS BRAF
8
Show member pathways
12.51 PDGFRA MAP2K1 KRAS CCND1 BRAF
9
Show member pathways
12.45 PDGFRA MAP2K1 KRAS CR2 BRAF
10
Show member pathways
12.42 PDGFRA MAP2K1 KRAS BRAF
11
Show member pathways
12.41 MAP2K1 KRAS CCND1 BRAF
12
Show member pathways
12.39 MAP2K1 KRAS CTSD CCND1
13
Show member pathways
12.39 PDGFRA MAP2K1 KRAS CCND1 BRAF
14
Show member pathways
12.33 MAP2K1 KRAS CR2 BRAF
15
Show member pathways
12.3 MAP2K1 KRAS CR2 BRAF
16
Show member pathways
12.29 SLC22A2 PDGFRA MAP2K1 KRAS
17 12.15 MAP2K1 KRAS CCND1 BRAF
18 12.15 PDGFRA MAP2K1 KRAS FSCN1 CCND1
19
Show member pathways
12.07 MAP2K1 KRAS BRAF
20
Show member pathways
12.06 PDGFRA MAP2K1 KRAS
21 12.01 MAP2K1 KRAS CTSD
22 12.01 MAP2K1 KRAS CCND1
23 12.01 MAP2K1 KRAS CCND1 BRAF
24
Show member pathways
12 MAP2K1 KRAS BRAF
25
Show member pathways
11.94 MAP2K1 KRAS CTSD
26 11.93 MAP2K1 KRAS CCND1
27 11.92 MAP2K1 KRAS CTSD
28 11.91 MAP2K1 KRAS BRAF
29
Show member pathways
11.9 PDGFRA MAP2K1 KRAS CCND1 BRAF
30 11.89 MAP2K1 KRAS BRAF
31
Show member pathways
11.88 MAP2K1 KRAS BRAF
32
Show member pathways
11.84 MAP2K1 KRAS CCND1 BRAF
33 11.81 MAP2K1 KRAS BRAF
34 11.76 PDGFRA MAP2K1 KRAS
35
Show member pathways
11.72 MAP2K1 KRAS BRAF
36 11.69 MAP2K1 KRAS BRAF
37 11.65 PDGFRA MAP2K1 KRAS BRAF
38 11.62 MAP2K1 KRAS BRAF
39 11.61 PDGFRA MAP2K1 KRAS
40
Show member pathways
11.55 MAP2K1 KRAS BRAF
41 11.5 MAP2K1 KRAS BRAF
42 11.43 MAP2K1 CCND1 BRAF
43 11.32 MAP2K1 KRAS CCND1 BRAF
44 11.23 MAP2K1 KRAS BRAF
45 11.07 KRAS CCND1
46 11.07 PDGFRA MAP2K1 KRAS CCND1 BRAF
47 11.06 MAP2K1 BRAF
48 11.06 MAP2K1 KRAS BRAF
49 11 MAP2K1 KRAS
50 10.97 MAP2K1 BRAF

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 peptidyl-tyrosine phosphorylation GO:0018108 9.54 PDGFRA MAP2K1 BRAF
2 MAPK cascade GO:0000165 9.46 PDGFRA MAP2K1 KRAS BRAF
3 face development GO:0060324 9.32 MAP2K1 BRAF
4 Leydig cell differentiation GO:0033327 9.26 PDGFRA CCND1
5 positive regulation of gene expression GO:0010628 9.02 SLC22A2 MAP2K1 KRAS CRP BRAF
6 regulation of axon regeneration GO:0048679 8.96 MAP2K1 BRAF

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.46 PDGFRA KRAS CCND1 BRAF
2 protein tyrosine kinase activity GO:0004713 9.13 PDGFRA MAP2K1 BRAF
3 low-density lipoprotein particle binding GO:0030169 8.62 STAB1 CRP

Sources for Rosai-Dorfman Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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