RDD
MCID: RSD004
MIFTS: 41

Rosai-Dorfman Disease (RDD) malady

Categories: Rare diseases, Immune diseases, Ear diseases

Aliases & Classifications for Rosai-Dorfman Disease

Aliases & Descriptions for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 50 52 50 56
Sinus Histiocytosis with Massive Lymphadenopathy 50 56
Shml 50 56
Histiocytosis with Joint Contractures and Sensorineural Deafness 69
Destombes-Rosaï-Dorfman Disease 56
Rosaï-Dorfman-Destombes Disease 56
Sinus Histiocytosis 69
Rdd 50

Characteristics:

Orphanet epidemiological data:

56
rosaï-dorfman disease
Age of onset: Adolescent,Adult;

Classifications:



External Ids:

Orphanet 56 ORPHA158014
ICD10 via Orphanet 34 D76.3

Summaries for Rosai-Dorfman Disease

NIH Rare Diseases : 50 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 juvenile xanthogranuloma and histiocytosis-lymphadenopathy plus syndrome, 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, breast and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

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 104)
id Related Disease Score Top Affiliating Genes
1 juvenile xanthogranuloma 30.1 CD163 S100B
2 histiocytosis-lymphadenopathy plus syndrome 12.1
3 histiocytosis 10.8
4 lymphoma 10.4
5 cervicitis 10.4
6 thyroiditis 10.3
7 meningitis 10.3
8 uveitis 10.3
9 laryngitis 10.2
10 igg4-related disease 10.2
11 mediastinitis 10.2
12 sarcoma 10.2
13 mite infestation 10.2 CD163 CR2
14 childhood immature teratoma of ovary 10.2 CD163 CTSD
15 sinusitis 10.2
16 bilateral breast cancer 10.2 CD163 CR2
17 adenosquamous colon carcinoma 10.2 CD163 CR2
18 geniculate herpes zoster 10.2 CR2 CRP
19 cervical polyp 10.2 CRP SLC29A3
20 plummer's disease 10.1 CD163 CRP
21 hypertensive heart disease 10.1 CRP SLC29A3
22 invasive mole 10.1 PDGFRA S100B
23 rhinoscleroma 10.1
24 b-cell lymphomas 10.1
25 dentin dysplasia with sclerotic bones 10.1 CD163 S100B
26 neuromuscular disease 10.1 CD163 FSCN1
27 arthritis 10.0
28 diffuse large b-cell lymphoma 10.0
29 choroiditis 10.0
30 hemolytic anemia 10.0
31 cerebritis 10.0
32 leukemia 10.0
33 systemic lupus erythematosus 10.0
34 ataxia 10.0
35 histiocytic sarcoma 10.0
36 myelodysplastic syndrome 10.0
37 cerebellar ataxia 10.0
38 panniculitis 10.0
39 lymphoplasmacyte-rich meningioma 10.0
40 lymphoblastic leukemia 10.0
41 pancreatitis 10.0
42 lupus erythematosus 10.0
43 intra-abdominal lymph node mast cell malignancy 10.0 CRP S100B
44 neutrophil immunodeficiency syndrome 10.0 CD163 PDGFRA S100B
45 sengers syndrome 10.0 PDGFRA S100B
46 c-p angle neurinoma 10.0 PDGFRA S100B
47 cavernous sinus meningioma 10.0 CD163 FSCN1 S100B
48 desmoid tumor 9.9 CR2 FSCN1 S100B
49 prostate adenocarcinoma 9.9
50 breast lymphoma 9.9

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:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 subcutaneous nodule 56 32 Occasional (29-5%) HP:0001482
3 anemia 56 32 Very frequent (99-80%) HP:0001903
4 fever 56 32 Very frequent (99-80%) HP:0001945
5 headache 56 32 Occasional (29-5%) HP:0002315
6 lymphadenopathy 56 32 Very frequent (99-80%) HP:0002716
7 osteolysis 56 32 Occasional (29-5%) HP:0002797
8 dysgammaglobulinemia 56 32 Very frequent (99-80%) HP:0002961
9 paresthesia 56 32 Occasional (29-5%) HP:0003401
10 paraplegia 56 32 Occasional (29-5%) HP:0010550
11 erythema 56 32 Occasional (29-5%) HP:0010783
12 papule 56 32 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
id 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 CTSE S100B
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 CTSD CTSE S100B SLC29A3
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 CRP SLC29A3 PDGFRA
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 CTSD CTSE PDGFRA S100B STAB1 CD163
2 immune system MP:0005387 9.23 CTSE FSCN1 PDGFRA SLC29A3 CD163 CR2

Drugs & Therapeutics for Rosai-Dorfman Disease

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
Lymph Node, Breast, Bone, Spinal Cord, Thyroid, Kidney, Lung

Publications for Rosai-Dorfman Disease

Articles related to Rosai-Dorfman Disease:

(show top 50) (show all 604)
id Title Authors Year
1
Primary Rosai-Dorfman disease of the femur. ( 27785544 )
2017
2
Cutaneous Rosai-Dorfman disease associated with uveitis. ( 28073706 )
2017
3
Choroid plexus involvement in Rosai-Dorfman disease. ( 28084291 )
2017
4
Rosai-Dorfman Disease Manifesting as a Pancreatic Head Mass Diagnosed Nonoperatively. ( 27997302 )
2017
5
Intracranial Rosai-Dorfman disease: An rare entity with an uncommon presentation. ( 27625265 )
2016
6
Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease. ( 27828638 )
2016
7
Rosai-Dorfman Disease. ( 27766815 )
2016
8
Intracranial multifocal Rosai-Dorfman disease. ( 27800534 )
2016
9
Cutaneous rosai dorfman disease: A case report and literature review. ( 27773129 )
2016
10
An interesting skin nodule - Extranodal, cutaneous Rosai-Dorfman disease. ( 27773152 )
2016
11
Is it a Metastatic Disease: A Case Report and New Understanding of Rosai-Dorfman Disease? ( 26913847 )
2016
12
Double compression caused by isolated spinal Rosai-Dorfman disease. ( 26851720 )
2016
13
Extranodal Rosai-Dorfman Disease: Clinicopathologic Series of 10 Patients With Radiologic Correlation and Review of the Literature. ( 26803323 )
2016
14
Rosai-Dorfman Disease Masquerading as Cholangiocarcinoma. ( 27609704 )
2016
15
MRI and CT findings of isolated intracranial Rosai-Dorfman disease in a child. ( 26915894 )
2016
16
Mercaptopurine Treatment in an Adult Man with Orbital and Intracranial Rosai-Dorfman Disease. ( 27840753 )
2016
17
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and cirrhosis of the liver: A case report and literature review. ( 27138663 )
2016
18
Perirrenal presentation of extranodal Rosai-Dorfman disease. ( 27617557 )
2016
19
Redefining the Prevalence of Dural Involvement in Rosai-Dorfman Disease of the Central Nervous System. ( 26968450 )
2016
20
Intraperitoneal Rosai-Dorfman disease associated with clear cell sarcoma: first case report. ( 27814905 )
2016
21
Breast Involvement in Pure Cutaneous Rosai-Dorfman Disease: Ultrasound and Sonoelastography Appearance With a Review of the Literature. ( 26998930 )
2016
22
Rosai-Dorfman Disease Involving Multiple Organs: An Unusual Case with Poor Prognosis. ( 27872644 )
2016
23
Rosai-Dorfman disease: Familiar yet enigmatic. ( 27370529 )
2016
24
Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation. ( 26922062 )
2016
25
Sinus histiocytosis with massive lymphadenopathy: extra-nodal Rosai-Dorfman disease presenting as a rare aetiology of a large intracardiac mass. ( 27742810 )
2016
26
Isolated localization of Rosai Dorfman disease as renal mass: a case report and review of literature. ( 27642405 )
2016
27
Extra Nodal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy) Presenting as Asymmetric Bilateral Optic Atrophy : An Atypical Ocular Presentation. ( 27091209 )
2016
28
A rare case of Rosai-Dorfman disease without lymphadenopathy. ( 26837011 )
2016
29
Intracranial Rosai-Dorfman disease. ( 27561856 )
2016
30
99mTc-Sestamibi Avid Soft Tissue Lesions in Rosai-Dorfman Disease. ( 27824326 )
2016
31
Tracheobronchial Involvement of Rosai-Dorfman Disease: Case Report and Review of the Literature. ( 26886634 )
2016
32
A Rare Presentation of Rosai-Dorfman Disease as a Breast Mass. ( 27345754 )
2016
33
Management Strategies in Rosai-Dorfman Disease: To Do or Not To Do. ( 26907652 )
2016
34
Isolated Intracranial Rosai-Dorfman Disease. ( 26949555 )
2016
35
Soft tissue Rosai-Dorfman disease in child: A case report and literature review. ( 27442634 )
2016
36
A Case Indistinguishable Between Indeterminate Cell Histiocytosis and Cutaneous Rosai-Dorfman Disease. ( 27507795 )
2016
37
Rosai Dorfman disease with mainly cutaneous manifestations. ( 28051236 )
2016
38
Rosai-Dorfman disease affecting the nasal cavities and paranasal sinuses. ( 27777489 )
2016
39
Cutaneous Involvement of Pre-existing Rosai-Dorfman Disease via Post-herpetic Isotopic Response. ( 27611178 )
2016
40
Extranodal manifestation of Rosai-Dorfman disease in the breast tissue. ( 27594932 )
2016
41
Rosai-Dorfman disease and the heart. ( 26989642 )
2016
42
Intrathoracic Rosai Dorfman Disease with Focal Aggregates of IgG4-bearing Plasma Cells. Case Report and Literature Review. ( 26820713 )
2016
43
Is It a Metastatic Disease: A Case Report and New Understanding of Rosai-Dorfman Disease? ( 27898474 )
2016
44
A rare cause of lymphadenopathy - Rosai-Dorfman disease in a HIV-positive Ugandan woman. ( 26759277 )
2016
45
Unusual presentation of Rosai-Dorfman disease in a 14-month-old Italian child: a case report and review of the literature. ( 27142277 )
2016
46
Rosai-Dorfman disease: An unusual isolated cavernous sinus lesion. ( 27841216 )
2016
47
Pleomorphic cutaneous Rosai-Dorfman disease. ( 27743409 )
2016
48
Cutaneous Rosai-Dorfman Disease in a Patient with Human Immunodeficiency Virus. ( 26990470 )
2016
49
Rosai-Dorfman disease involving gallbladder and liver-Report of a case. ( 26073916 )
2015
50
Pulmonary manifestations revealing Rosai-Dorfman disease. ( 26422575 )
2015

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:

id Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 8.96 CD163 STAB1
2 microvillus GO:0005902 8.62 FSCN1 PDGFRA

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

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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