MCID: RSD004
MIFTS: 39

Rosai-Dorfman Disease malady

Categories: Rare diseases, Immune diseases, Ear diseases

Aliases & Classifications for Rosai-Dorfman Disease

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 48 50
Sinus Histiocytosis with Massive Lymphadenopathy 48 54
Rosaï-Dorfman Disease 48 54
Shml 48 54
Histiocytosis with Joint Contractures and Sensorineural Deafness 68
 
Destombes-Rosaï-Dorfman Disease 54
Rosaï-Dorfman-Destombes Disease 54
Sinus Histiocytosis 68
Rdd 48

Characteristics:

Orphanet epidemiological data:

54
sinus histiocytosis with massive lymphadenopathy:
Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet54 ORPHA158014
ICD10 via Orphanet31 D76.3

Summaries for Rosai-Dorfman Disease

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NIH Rare Diseases:48 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 histiocytosis-lymphadenopathy plus syndrome and histiocytosis, and has symptoms including muscle weakness, anemia and lymphadenopathy. An important gene associated with Rosai-Dorfman Disease is CD163 (CD163 Molecule). Affiliated tissues include bone, skin and spinal cord, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance (Z-score < -2).

Related Diseases for Rosai-Dorfman Disease

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis-lymphadenopathy plus syndrome12.1
2histiocytosis10.8
3pancreatic intraductal papillary-mucinous adenoma10.4CD163, CR2
4lymphoma10.4
5malignant type ab thymoma10.4CD163, CR2
6lumbosacral lipoma10.4CD163, CTSD
7adenosquamous bile duct carcinoma10.4CD163, CR2
8cervicitis10.4
9thyroiditis10.3
10meningitis10.3
11pemphigus10.3CR2, CRP
12uveitis10.3
13angioma hereditary neurocutaneous10.3CR2, CRP
14chronic apical periodontitis10.2CD163, CRP
15dental abscess10.2CRP, SLC29A3
16sarcoma10.2
17laryngitis10.2
18mediastinitis10.2
19igg4-related disease10.2
20relapsing epidemic typhus10.2PDGFRA, S100B
21gallbladder leiomyosarcoma10.2CD163, S100B
22sinusitis10.2
23anus leiomyosarcoma10.1PDGFRA, S100B
24b-cell lymphomas10.1
25rhinoscleroma10.1
26juvenile xanthogranuloma10.1
27loeffler syndrome10.1CRP, PDGFRA
28pulmonary systemic sclerosis10.1CD163, CRP
29renal tubular acidosis, distal, autosomal recessive10.1PDGFRA, S100B
30malignant giant cell tumor10.1CD163, CRP
31systemic lupus erythematosus10.0
32myelodysplastic syndrome10.0
33cerebellar ataxia10.0
34arthritis10.0
35diffuse large b-cell lymphoma10.0
36hemolytic anemia10.0
37leukemia10.0
38lymphoblastic leukemia10.0
39choroiditis10.0
40panniculitis10.0
41cerebritis10.0
42lymphoplasmacyte-rich meningioma10.0
43pancreatitis10.0
44lupus erythematosus10.0
45ataxia10.0
46histiocytic sarcoma10.0
47mononeuritis of lower limb10.0CRP, S100B
48neutrophil immunodeficiency syndrome10.0CD163, PDGFRA, S100B
49vertebrobasilar insufficiency10.0CRP, S100B
50lung cancer9.9

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



Diseases related to rosai-dorfman disease

Symptoms & Phenotypes for Rosai-Dorfman Disease

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Human phenotypes related to Rosai-Dorfman Disease:

 64 54 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness64 hallmark (90%) HP:0001324
2 anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001903
3 lymphadenopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0002716
4 abnormality of temperature regulation64 hallmark (90%) HP:0004370
5 abnormal immunoglobulin level64 hallmark (90%) HP:0010701
6 abnormality of the skin64 occasional (7.5%) HP:0000951
7 seizures54 Occasional (29-5%)
8 subcutaneous nodule54 Occasional (29-5%)
9 fever54 Very frequent (99-80%)
10 headache54 Occasional (29-5%)
11 osteolysis54 Occasional (29-5%)
12 dysgammaglobulinemia54 Very frequent (99-80%)
13 paresthesia54 Occasional (29-5%)
14 paraplegia54 Occasional (29-5%)
15 erythema54 Occasional (29-5%)
16 papule54 Occasional (29-5%)

UMLS symptoms related to Rosai-Dorfman Disease:


hepatomegaly

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.1CRP, PDGFRA, SLC29A3
2GR00366-A-588.5CTSD, CTSE, S100B, SLC29A3

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.6CR2, CRP, CTSD, CTSE, FSCN1, PDGFRA

Drugs & Therapeutics for Rosai-Dorfman Disease

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Interventional clinical trials:

idNameStatusNCT IDPhase
1International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Rosai-Dorfman Disease

Genetic Tests for Rosai-Dorfman Disease

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Anatomical Context for Rosai-Dorfman Disease

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MalaCards organs/tissues related to Rosai-Dorfman Disease:

36
Bone, Skin, Spinal cord, Thyroid, Kidney, Lung, Liver

Publications for Rosai-Dorfman Disease

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Articles related to Rosai-Dorfman Disease:

(show top 50)    (show all 604)
idTitleAuthorsYear
1
Primary Rosai-Dorfman disease of the femur. (27785544)
2017
2
Rosai-Dorfman Disease Manifesting as a Pancreatic Head Mass Diagnosed Nonoperatively. (27997302)
2017
3
Choroid plexus involvement in Rosai-Dorfman disease. (28084291)
2017
4
Cutaneous Rosai-Dorfman disease associated with uveitis. (28073706)
2017
5
Tracheobronchial Involvement of Rosai-Dorfman Disease: Case Report and Review of the Literature. (26886634)
2016
6
Management Strategies in Rosai-Dorfman Disease: To Do or Not To Do. (26907652)
2016
7
Breast Involvement in Pure Cutaneous Rosai-Dorfman Disease: Ultrasound and Sonoelastography Appearance With a Review of the Literature. (26998930)
2016
8
Pleomorphic cutaneous Rosai-Dorfman disease. (27743409)
2016
9
Intrathoracic Rosai Dorfman Disease with Focal Aggregates of IgG4-bearing Plasma Cells. Case Report and Literature Review. (26820713)
2016
10
Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease. (27828638)
2016
11
Intracranial multifocal Rosai-Dorfman disease. (27800534)
2016
12
Rosai-Dorfman disease: Familiar yet enigmatic. (27370529)
2016
13
Rosai-Dorfman Disease Masquerading as Cholangiocarcinoma. (27609704)
2016
14
Intraperitoneal Rosai-Dorfman disease associated with clear cell sarcoma: first case report. (27814905)
2016
15
A Case Indistinguishable Between Indeterminate Cell Histiocytosis and Cutaneous Rosai-Dorfman Disease. (27507795)
2016
16
Rosai-Dorfman disease and the heart. (26989642)
2016
17
99mTc-Sestamibi Avid Soft Tissue Lesions in Rosai-Dorfman Disease. (27824326)
2016
18
Redefining the Prevalence of Dural Involvement in Rosai-Dorfman Disease of the Central Nervous System. (26968450)
2016
19
Extranodal manifestation of Rosai-Dorfman disease in the breast tissue. (27594932)
2016
20
A rare case of Rosai-Dorfman disease without lymphadenopathy. (26837011)
2016
21
Rosai-Dorfman Disease. (27766815)
2016
22
A Rare Presentation of Rosai-Dorfman Disease as a Breast Mass. (27345754)
2016
23
Cutaneous Involvement of Pre-existing Rosai-Dorfman Disease via Post-herpetic Isotopic Response. (27611178)
2016
24
Intracranial Rosai-Dorfman disease: An rare entity with an uncommon presentation. (27625265)
2016
25
Cutaneous rosai dorfman disease: A case report and literature review. (27773129)
2016
26
Perirrenal presentation of extranodal Rosai-Dorfman disease. (27617557)
2016
27
Double compression caused by isolated spinal Rosai-Dorfman disease. (26851720)
2016
28
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and cirrhosis of the liver: A case report and literature review. (27138663)
2016
29
Extra Nodal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy) Presenting as Asymmetric Bilateral Optic Atrophy : An Atypical Ocular Presentation. (27091209)
2016
30
Mercaptopurine Treatment in an Adult Man with Orbital and Intracranial Rosai-Dorfman Disease. (27840753)
2016
31
Cutaneous Rosai-Dorfman Disease in a Patient with Human Immunodeficiency Virus. (26990470)
2016
32
Rosai-Dorfman Disease Involving Multiple Organs: An Unusual Case with Poor Prognosis. (27872644)
2016
33
Intracranial Rosai-Dorfman disease. (27561856)
2016
34
Unusual presentation of Rosai-Dorfman disease in a 14-month-old Italian child: a case report and review of the literature. (27142277)
2016
35
Is it a Metastatic Disease: A Case Report and New Understanding of Rosai-Dorfman Disease? (26913847)
2016
36
Sinus histiocytosis with massive lymphadenopathy: extra-nodal Rosai-Dorfman disease presenting as a rare aetiology of a large intracardiac mass. (27742810)
2016
37
MRI and CT findings of isolated intracranial Rosai-Dorfman disease in a child. (26915894)
2016
38
Isolated Intracranial Rosai-Dorfman Disease. (26949555)
2016
39
Rosai Dorfman disease with mainly cutaneous manifestations. (28051236)
2016
40
A rare cause of lymphadenopathy - Rosai-Dorfman disease in a HIV-positive Ugandan woman. (26759277)
2016
41
Rosai-Dorfman disease affecting the nasal cavities and paranasal sinuses. (27777489)
2016
42
Extranodal Rosai-Dorfman Disease: Clinicopathologic Series of 10 Patients With Radiologic Correlation and Review of the Literature. (26803323)
2016
43
An interesting skin nodule - Extranodal, cutaneous Rosai-Dorfman disease. (27773152)
2016
44
Soft tissue Rosai-Dorfman disease in child: A case report and literature review. (27442634)
2016
45
Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation. (26922062)
2016
46
Rosai-Dorfman disease: An unusual isolated cavernous sinus lesion. (27841216)
2016
47
Is It a Metastatic Disease: A Case Report and New Understanding of Rosai-Dorfman Disease? (27898474)
2016
48
Isolated localization of Rosai Dorfman disease as renal mass: a case report and review of literature. (27642405)
2016
49
Multiple aneurysms and Rosai-Dorfman disease: association or coincidence? (26396129)
2015
50
Rosai-Dorfman Disease Involving the Ear and Lateral Skull Base. (25675314)
2015

Variations for Rosai-Dorfman Disease

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Expression for genes affiliated with Rosai-Dorfman Disease

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

Pathways for genes affiliated with Rosai-Dorfman Disease

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GO Terms for genes affiliated with Rosai-Dorfman Disease

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

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.4CD163, STAB1

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

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:000695310.1CD163, CRP
2protein catabolic processGO:00301639.6CTSD, CTSE

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:000419010.3CTSD, CTSE
2low-density lipoprotein particle bindingGO:00301699.8CRP, STAB1
3scavenger receptor activityGO:00050449.4CD163, STAB1
4protein homodimerization activityGO:00428039.3CR2, CTSE, PDGFRA, S100B

Sources for Rosai-Dorfman Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet