MCID: RSD004
MIFTS: 48

Rosai-Dorfman Disease

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

Aliases & Classifications for Rosai-Dorfman Disease

MalaCards integrated aliases for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 49 51 49 55
Sinus Histiocytosis with Massive Lymphadenopathy 49 55
Shml 49 55
Histiocytosis with Joint Contractures and Sensorineural Deafness 69
Destombes-Rosaï-Dorfman Disease 55
Rosaï-Dorfman-Destombes Disease 55
Sinus Histiocytosis 69
Rdd 49

Characteristics:

Orphanet epidemiological data:

55
rosaï-dorfman disease
Age of onset: Adolescent,Adult;

Classifications:



Summaries for Rosai-Dorfman Disease

NIH Rare Diseases : 49 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.   Last updated: 7/22/2013

MalaCards based summary : Rosai-Dorfman Disease, also known as sinus histiocytosis with massive lymphadenopathy, is related to langerhans cell histiocytosis and castleman disease, and has symptoms including seizures, subcutaneous nodule and anemia. An important gene associated with Rosai-Dorfman Disease is CD163 (CD163 Molecule). Affiliated tissues include lymph node, bone and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 133)
# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 30.8 CD163 S100B
2 castleman disease 30.4 CR2 CRP
3 juvenile xanthogranuloma 30.3 FSCN1 S100B
4 histiocytosis 29.9 CD163 FSCN1 S100B SLC29A3 STAB1
5 histiocytic sarcoma 29.4 CD163 CR2 FSCN1 S100B
6 histiocytosis-lymphadenopathy plus syndrome 12.4
7 meningioma, familial 10.6
8 lymphoma 10.5
9 cervicitis 10.5
10 thyroiditis 10.4
11 meningitis 10.4
12 uveitis 10.4
13 sarcoma 10.4
14 igg4-related disease 10.4
15 laryngitis 10.4
16 infiltrating lipoma 10.3 CD163 CTSD
17 adenosquamous gallbladder carcinoma 10.3 CTSD PDGFRA
18 interdigitating dendritic cell sarcoma 10.3 CD163 CR2
19 spleen cancer 10.3 CD163 CR2
20 hemorrhagic fever with renal syndrome 10.3 CD163 CRP
21 mediastinitis 10.3
22 histiocytic and dendritic cell cancer 10.3 CD163 CR2
23 liver inflammatory pseudotumor 10.3 CR2 CRP
24 b-cell lymphomas 10.3
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
26 sinusitis 10.3
27 carotid artery disease 10.2 CD163 CRP
28 leukocyte disease 10.2 CRP PDGFRA
29 mastoiditis 10.2 CRP SLC29A3
30 cutaneous fibrous histiocytoma 10.2 CD163 S100B
31 rhinoscleroma 10.2
32 reticular perineurioma 10.2 PDGFRA S100B
33 suppurative otitis media 10.2 CRP SLC29A3
34 chordoma 10.1 PDGFRA S100B
35 reticulohistiocytic granuloma 10.1 CD163 FSCN1
36 salmonellosis 10.1
37 pancreatitis 10.1
38 diffuse large b-cell lymphoma 10.1
39 lymphoblastic leukemia 10.1
40 aceruloplasminemia 10.1
41 melanoma 10.1
42 systemic lupus erythematosus 10.1
43 hemolytic anemia 10.1
44 choroiditis 10.1
45 leukemia 10.1
46 petroclival meningioma 10.1
47 cerebritis 10.1
48 myelodysplastic syndrome 10.1
49 ataxia-oculomotor apraxia 3 10.1
50 ataxia and polyneuropathy, adult-onset 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:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 subcutaneous nodule 55 31 occasional (7.5%) Occasional (29-5%) HP:0001482
3 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
4 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
5 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
6 lymphadenopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002716
7 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
8 dysgammaglobulinemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002961
9 paresthesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003401
10 paraplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0010550
11 erythema 55 31 occasional (7.5%) Occasional (29-5%) HP:0010783
12 papule 55 31 occasional (7.5%) Occasional (29-5%) HP:0200034

UMLS symptoms related to Rosai-Dorfman Disease:


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

25 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.83 S100B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.83 S100B CTSE
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.83 SLC29A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.83 SLC29A3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.83 CTSD
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.83 S100B SLC29A3 CTSD CTSE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.83 S100B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.83 CTSE
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.83 CTSE
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.83 S100B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.83 CTSD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 SLC29A3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.68 SLC29A3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 CRP
15 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.68 PDGFRA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.68 SLC29A3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.68 SLC29A3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 PDGFRA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.68 CRP
20 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 SLC29A3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 CRP
22 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 SLC29A3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.68 SLC29A3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.68 PDGFRA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.68 SLC29A3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 PDGFRA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 PDGFRA CRP SLC29A3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 CRP
29 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.68 SLC29A3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 PDGFRA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.68 SLC29A3
32 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 SLC29A3

MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 PDGFRA S100B STAB1 CD163 CR2 CRP
2 immune system MP:0005387 9.23 SLC29A3 CD163 CR2 CRP 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:

38
Lymph Node, Bone, Skin, Thyroid, Spinal Cord, Brain, Kidney

Publications for Rosai-Dorfman Disease

Articles related to Rosai-Dorfman Disease:

(show top 50) (show all 644)
# Title Authors Year
1
A Study on Clinical Characteristics and Magnetic Resonance Imaging Manifestations on Systemic Rosai-Dorfman Disease. ( 29451149 )
2018
2
<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
3
Ophthalmic Findings of Rosai-Dorfman Disease. ( 29428455 )
2018
4
Isolated Multinodular Soft-Tissue Rosai-Dorfman Disease on FDG PET/CT. ( 29215410 )
2018
5
Chest wall resection and reconstruction for Rosai-Dorfman disease masquerading as a chest wall sarcoma. ( 29181991 )
2018
6
Castleman Disease and Rosai-Dorfman Disease. ( 29217303 )
2018
7
Bronchial Involvement in Rosai Dorfman Disease. ( 29233361 )
2018
8
Cutaneous Rosai-Dorfman disease of the face with a leonine appearance: successful response to dapsone. ( 29400286 )
2018
9
Melanoma Mimicking Rosai-Dorfman Disease. ( 29405342 )
2018
10
Systemic Rosai-Dorfman disease with central nervous system involvement. ( 28881164 )
2017
11
Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. ( 28664935 )
2017
12
Rosai-Dorfman disease with features of IgG4-related disease in the breast: Cases report and literature review. ( 28577522 )
2017
13
Extra-Axial Mass in the Foramen Magnum Causing Cervical Compressive Myelopathy as a Complication of Rosai-Dorfman Disease. ( 28748682 )
2017
14
A rarity in breast pathology: A male case of Rosai-Dorfman disease and literature review. ( 28600957 )
2017
15
Membranoproliferative glomerulonephritis associated with Rosai-Dorfman disease. ( 29043148 )
2017
16
Cystoid macular oedema associated with Rosai-Dorfman disease: a case report. ( 28806938 )
2017
17
Extranodal Rosai-Dorfman disease arising in the heart: clinical course and review of literature. ( 28797681 )
2017
18
Cutaneous Rosai-Dorfman disease associated with uveitis. ( 28073706 )
2017
19
Successful Treatment of Rosai-Dorfman disease Using ALA-PDT. ( 29197644 )
2017
20
Choroid plexus involvement in Rosai-Dorfman disease. ( 28084291 )
2017
21
Disseminated cutaneous Mycobacterium kansasii infection presenting with Rosai-Dorfman disease-like histological features in a patient carrying anti-interferon-I^ autoantibodies. ( 28836691 )
2017
22
Multimodality imaging-based evaluation of Rosai-Dorfman disease in the head and neck: A retrospective observational study. ( 29390533 )
2017
23
Review of Rosai-Dorfman Disease: New Insights into the Pathogenesis of This Rare Disorder. ( 28614806 )
2017
24
Rosai-Dorfman disease and uveitis. ( 28943506 )
2017
25
Immunoglobulin G4-related Chronic Rhinosinusitis: A Pitfall in the Differential Diagnosis of Granulomatosis with Polyangiitis, Rosai-Dorfman Disease and Fungal Rhinosinusitis. ( 29288039 )
2017
26
Cutaneous Rosai-Dorfman Disease With Linear Lesions and Monoclonal Gammopathy. ( 28930107 )
2017
27
Intraosseous Rosai-Dorfman disease diagnosed by touch imprint cytology evaluation: A case series. ( 28834636 )
2017
28
Atypical Primary Cutaneous Rosai Dorfman Disease: A Case Report. ( 28639453 )
2017
29
A fatal case of Rosai-Dorfman disease. ( 28781868 )
2017
30
Giant isolated transcranial Rosai-Dorfman disease with diffuse involvement of nasal and paranasal tissues: case report and literature review. ( 28670983 )
2017
31
Thyroid involvement by Rosai-Dorfman disease. ( 29056254 )
2017
32
Soft Tissue Rosai-Dorfman Disease: Case report. ( 29372088 )
2017
33
Isolated intracranial Rosai-Dorfman disease mimicking petroclival meningioma in a child: Case report and review of the literature. ( 29381971 )
2017
34
Laryngeal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy): A Retrospective Study of 5 Cases. ( 28770226 )
2017
35
Rosai-Dorfman Disease with Activating KRAS Mutation - Response to Cobimetinib. ( 29236635 )
2017
36
Recurrent intracranial Rosai-Dorfman disease: Management of a challenging case. ( 28761538 )
2017
37
Rosai-Dorfman Disease Manifesting as a Pancreatic Head Mass Diagnosed Nonoperatively. ( 27997302 )
2017
38
Primary intraosseous Rosai-Dorfman disease: Long-term follow-up with recurrence after surgical excision. ( 28937393 )
2017
39
Primary Rosai-Dorfman disease of the femur. ( 27785544 )
2017
40
Cutaneous Rosai-Dorfman Disease. ( 28859745 )
2017
41
Rosai-Dorfman Disease. ( 29319260 )
2017
42
Is Rosai-Dorfman disease a reactve process? Detection of a MAP2K1 L115V mutation in a case of Rosai-Dorfman disease. ( 28597077 )
2017
43
Image Gallery: Metachronic occurrence of primary cutaneous marginal zone B-cell lymphoma and primary cutaneous Rosai-Dorfman disease in the same patient. ( 29313941 )
2017
44
Sinus Histiocytosis With Massive Lymphadenopathy (Rosai Dorfman Disease): Diagnostic and Treatment Modalities for this Rare Entity Revisited. ( 29200169 )
2017
45
Tracheobronchial Involvement of Rosai-Dorfman Disease: Case Report and Review of the Literature. ( 26886634 )
2016
46
Sinus histiocytosis with massive lymphadenopathy: extra-nodal Rosai-Dorfman disease presenting as a rare aetiology of a large intracardiac mass. ( 27742810 )
2016
47
Pleomorphic cutaneous Rosai-Dorfman disease. ( 27743409 )
2016
48
Isolated localization of Rosai Dorfman disease as renal mass: a case report and review of literature. ( 27642405 )
2016
49
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and cirrhosis of the liver: A case report and literature review. ( 27138663 )
2016
50
Unusual presentation of Rosai-Dorfman disease in a 14-month-old Italian child: a case report and review of the literature. ( 27142277 )
2016

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

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

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 8.62 CD163 STAB1

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

# Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 8.96 CTSD CTSE
2 acute-phase response GO:0006953 8.62 CD163 CRP

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.56 CR2 CTSE PDGFRA S100B
2 scavenger receptor activity GO:0005044 9.16 CD163 STAB1
3 aspartic-type endopeptidase activity GO:0004190 8.96 CTSD CTSE
4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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