MCID: RSD004
MIFTS: 43

Rosai-Dorfman Disease malady

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

Aliases & Classifications for Rosai-Dorfman Disease

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Sources:
65UMLS, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rosai-Dorfman Disease:

Name: Rosai-Dorfman Disease 45 47
Sinus Histiocytosis with Massive Lymphadenopathy 45 51
Rosaï-Dorfman Disease 45 51
Shml 45 51
Histiocytosis with Joint Contractures and Sensorineural Deafness 65
 
Destombes-Rosaï-Dorfman Disease 51
Rosaï-Dorfman-Destombes Disease 51
Sinus Histiocytosis 65
Rdd 45

Characteristics:

Orphanet epidemiological data:

51
sinus histiocytosis with massive lymphadenopathy:
Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet51 158014
ICD10 via Orphanet28 D76.3
UMLS65 C0019625, C1864445

Summaries for Rosai-Dorfman Disease

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NIH Rare Diseases:45 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 meningitis and histiocytosis-lymphadenopathy plus syndrome, and has symptoms including muscle weakness, anemia and lymphadenopathy. An important gene associated with Rosai-Dorfman Disease is CD163 (CD163 Molecule), and among its related pathways is Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include lymph node, breast and bone.

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 105)
idRelated DiseaseScoreTop Affiliating Genes
1meningitis30.8CRP, S100B
2histiocytosis-lymphadenopathy plus syndrome11.9
3histiocytosis10.9
4lymphoma10.6
5cervicitis10.5
6thyroiditis10.5
7langerhans-cell histiocytosis10.4
8spondylocamptodactyly10.4CD163, CRP
9keratomalacia10.4CD163, CRP
10uveitis10.4
11laryngitis10.4
12mediastinitis10.4
13igg4-related disease10.4
14breast abscess10.4CRP, SLC29A3
15carotid artery thrombosis10.3CD163, CRP
16sarcoma10.3
17granulomatous dermatitis10.3CD163, FSCN1
18b-cell lymphomas10.3
19sinusitis10.3
20rhinoscleroma10.3
21juvenile xanthogranuloma10.3
22dyslexia10.2CD163, S100B
23basal ganglia calcification, idiopathic, 510.2CD163, PDGFRA
24systemic lupus erythematosus10.2
25myelodysplastic syndrome10.2
26cerebellar ataxia10.2
27arthritis10.2
28diffuse large b-cell lymphoma10.2
29hemolytic anemia10.2
30leukemia10.2
31lymphoblastic leukemia10.2
32panniculitis10.2
33cerebritis10.2
34lymphoplasmacyte-rich meningioma10.2
35lupus erythematosus10.2
36ataxia10.2
37histiocytic sarcoma10.2
38malignant giant cell tumor of the tendon sheath10.1CD163, CRP
39hypothyroidism due to deficient transcription factors involved in pituitary development or function10.1PDGFRA, S100B
40barbiturate dependence10.1CD163, S100B
41renal tubular acidosis, distal, autosomal recessive10.1PDGFRA, S100B
42vesicoureteral reflux10.1PDGFRA, S100B
43cellular schwannoma10.1PDGFRA, S100B
44lung cancer10.0
45breast cancer10.0
46factor xii deficiency10.0
47autoimmune lymphoproliferative syndrome10.0
48granuloma annulare10.0
49hemangioma10.0
50hepatitis10.0

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



Diseases related to rosai-dorfman disease

Symptoms for Rosai-Dorfman Disease

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Symptoms:

 51 (show all 7)
  • lymphadenopathy/polyadenopathies
  • muscle weakness/flaccidity
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • anaemia
  • fever/chilling
  • follicular/erythematous/edematous papules/milium
  • subcutaneous nodules/lipomas/tumefaction/swelling

HPO human phenotypes related to Rosai-Dorfman Disease:

(show all 6)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 anemia hallmark (90%) HP:0001903
3 lymphadenopathy hallmark (90%) HP:0002716
4 abnormality of temperature regulation hallmark (90%) HP:0004370
5 abnormal immunoglobulin level hallmark (90%) HP:0010701
6 abnormality of the skin occasional (7.5%) HP:0000951

UMLS symptoms related to Rosai-Dorfman Disease:


hepatomegaly

Drugs & Therapeutics for Rosai-Dorfman Disease

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Drugs for Rosai-Dorfman Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Octreotideapproved, investigationalPhase 119883150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
 
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Ocphyl
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide acetate
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatin
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
2
SomatostatinPhase 115351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
3pancreatic polypeptidePhase 120
4phenylalanineNutraceuticalPhase 1145

Interventional clinical trials:

idNameStatusNCT IDPhase
1Indium In 111 Pentetreotide in Treating Patients With Refractory CancerTerminatedNCT00002947Phase 1
2International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

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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:

33
Lymph node, Breast, Bone, Kidney, Lung, Thyroid, Liver

Animal Models for Rosai-Dorfman Disease or affiliated genes

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MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Rosai-Dorfman Disease

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Articles related to Rosai-Dorfman Disease:

(show top 50)    (show all 575)
idTitleAuthorsYear
1
Multiple aneurysms and Rosai-Dorfman disease: association or coincidence? (26396129)
2015
2
Rosai-Dorfman Disease Involving the Ear and Lateral Skull Base. (25675314)
2015
3
Pulmonary manifestations revealing Rosai-Dorfman disease. (26422575)
2015
4
A lethal intracranial Rosai-Dorfman disease of the brainstem diagnosed at autopsy. (26184902)
2015
5
An unusual presentation of extranodal Rosai-Dorfman disease threatening the airway. (26188562)
2015
6
A Case of Cutaneous Rosai-Dorfman Disease with underlying calvarial involvement and absence of BRAF(V600E) mutation. (26858984)
2015
7
Orbital Rosai-Dorfman Disease in a fifty-eight years old woman. (24353690)
2013
8
Emperipolesis is not pathognomonic for Rosai-Dorfman disease: rhinoscleroma mimicking Rosai-Dorfman disease, a clinical series. (24238175)
2013
9
Fine-needle aspiration of primary Rosai-Dorfman disease of the bone without peripheral lymphadenopathy: a challenging diagnosis. (22021127)
2013
10
Rosai-Dorfman disease presenting with extensive cutaneous manifestation - case report. (23739703)
2013
11
Rare coexistence of Rosai-Dorfman disease and nodal marginal zone lymphoma complicated by severe life-threatening autoimmune hemolytic anemia. (23270580)
2013
12
Rosai-dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: third reported occurrence. (22864941)
2012
13
Cutaneous Rosai-Dorfman disease: a case report. (23217947)
2012
14
A case of rosai-dorfman disease with highly elevated serum ferritin. (22389884)
2012
15
Rosai-Dorfman disease presenting as multiple breast masses in an otherwise asymptomatic male patient. (22137724)
2012
16
Fine needle aspiration diagnosis of Rosai-Dorfman Disease involving thyroid. (22438629)
2012
17
Symptomatic extranodal Rosai-Dorfman disease treated with steroids, radiation, and surgery. (21931038)
2011
18
Sinus histiocytosis with massive lymphadenopathy Rosai-Dorfman disease: a unique case presentation. (21906971)
2011
19
Rosai-Dorfman disease--perianaesthetic concerns. (20593637)
2010
20
Intracranial Rosai Dorfman Disease: report of three cases and literature review. (22028755)
2010
21
Primary Rosai-Dorfman disease of bone: a clinicopathologic study of 15 cases. (20679880)
2010
22
Rosai-Dorfman disease. (21103807)
2010
23
Extranodal Rosai-Dorfman disease of the kidney. (19139612)
2009
24
Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: second case report. (19020944)
2009
25
Rosai-Dorfman disease: sinus histiocytosis with massive lymphadenopathy. (21686390)
2009
26
Rosai-Dorfman disease of lung: a case report and review of the literatures. (19493405)
2009
27
Rosai-Dorfman disease causing spinal cord compression: case report. (18496169)
2008
28
Extranodal Rosai-Dorfman disease with multilevel lumbar spinal lesions. (18590411)
2008
29
A rare case of extranodal Rosai-Dorfman disease. (16980664)
2006
30
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) treated with 2-chlorodeoxyadenosine. (16302214)
2006
31
Rosai-Dorfman disease mimicking a sphenoid wing meningioma. (15805669)
2005
32
Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease): evidence for a dendritic cell derivation? (16761737)
2005
33
Nasal and paranasal sinus manifestation of Rosai-Dorfman disease. (16218519)
2005
34
Clinical and histopathologic spectrum of cutaneous Rosai-Dorfman disease in Taiwan. (15583585)
2004
35
Sinus histocytosis with massive lymphadenopathy (Rosai-Dorfman disease) in a patient with primary Sjogren's syndrome. (15163114)
2004
36
Extranodal sinus histiocytosis (Rosai-Dorfman disease) of the brain parenchyma. (12601463)
2003
37
Cutaneous rosai-dorfman disease is a distinct clinical entity. (12357197)
2002
38
Cutaneous sinus histiocytosis (Rosai-Dorfman disease) presenting clinically as vasculitis. (12004323)
2002
39
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of two cases with fine-needle aspiration cytology. (11135468)
2001
40
Rosai-Dorfman disease mimicking parasagittal meningioma: case presentation and review of literature. (10874144)
2000
41
Rosai dorfman disease - an unusual presentation: A case report. (23119695)
2000
42
Cutaneous Rosai-Dorfman disease--a pathologic review of 2 cases. (11063196)
2000
43
Importance of Papanicolaou-stained smears and immunocytochemistry in the diagnosis of Rosai-Dorfman disease. (10097737)
1999
44
Nasal manifestation of extranodal Rosai-Dorfman disease--diagnosis and management. (10435144)
1999
45
Review of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) of head and neck. (10579239)
1999
46
Immunohistologic findings and adhesion molecule pattern in primary pure cutaneous Rosai-Dorfman disease with xanthomatous features. (9700380)
1998
47
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
48
Monokine expression in Langerhans' cell histiocytosis and sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) (8691347)
1996
49
50

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

idSuper pathwaysScoreTop Affiliating Genes
19.6PDGFRA, S100B

GO Terms for genes affiliated with Rosai-Dorfman Disease

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Sources for Rosai-Dorfman Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet