MCID: RSD004
MIFTS: 41

Rosai-Dorfman Disease malady

Rare diseases, Bone diseases, Immune diseases, Ear diseases categories

Aliases & Classifications for Rosai-Dorfman Disease

About this section
Sources:
65UMLS, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet
See all 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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 158014
ICD10 via Orphanet28 D76.3

Summaries for Rosai-Dorfman Disease

About this section
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 histiocytoma and leishmaniasis, and has symptoms including muscle weakness, anemia and lymphadenopathy. An important gene associated with Rosai-Dorfman Disease is CD163 (CD163 Molecule). Affiliated tissues include lymph node, bone and breast, and related mouse phenotype immune system.

Related Diseases for Rosai-Dorfman Disease

About this section

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



Diseases related to rosai-dorfman disease

Symptoms for Rosai-Dorfman Disease

About this section

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

Drugs & Therapeutics for Rosai-Dorfman Disease

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Octreotideapproved, investigationalPhase 119183150-76-9383414, 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 114151110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
3pancreatic polypeptidePhase 120
4phenylalanineNutraceuticalPhase 1130

Interventional clinical trials:

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

Search NIH Clinical Center for Rosai-Dorfman Disease

Genetic Tests for Rosai-Dorfman Disease

About this section

Anatomical Context for Rosai-Dorfman Disease

About this section

MalaCards organs/tissues related to Rosai-Dorfman Disease:

33
Lymph node, Bone, Breast, Skin, Spinal cord, Thyroid, Kidney

Animal Models for Rosai-Dorfman Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Rosai-Dorfman Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.2CR2, CRP, CTSD, CTSE, FSCN1, PDGFRA

Publications for Rosai-Dorfman Disease

About this section

Articles related to Rosai-Dorfman Disease:

(show top 50)    (show all 545)
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
Orbital Rosai-Dorfman Disease in a fifty-eight years old woman. (24353690)
2013
7
Emperipolesis is not pathognomonic for Rosai-Dorfman disease: rhinoscleroma mimicking Rosai-Dorfman disease, a clinical series. (24238175)
2013
8
Fine-needle aspiration of primary Rosai-Dorfman disease of the bone without peripheral lymphadenopathy: a challenging diagnosis. (22021127)
2013
9
Rosai-Dorfman disease presenting with extensive cutaneous manifestation - case report. (23739703)
2013
10
Rare coexistence of Rosai-Dorfman disease and nodal marginal zone lymphoma complicated by severe life-threatening autoimmune hemolytic anemia. (23270580)
2013
11
Rosai-dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: third reported occurrence. (22864941)
2012
12
Cutaneous Rosai-Dorfman disease: a case report. (23217947)
2012
13
A case of rosai-dorfman disease with highly elevated serum ferritin. (22389884)
2012
14
Rosai-Dorfman disease presenting as multiple breast masses in an otherwise asymptomatic male patient. (22137724)
2012
15
Fine needle aspiration diagnosis of Rosai-Dorfman Disease involving thyroid. (22438629)
2012
16
Rosai-Dorfman disease presenting as a thoracic intradural extramedullary spinal tumor but without extraspinal manifestations. (21959966)
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 bone and nose: a case report and review of literature. (23596759)
2010
24
Extranodal Rosai-Dorfman disease of the kidney. (19139612)
2009
25
Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: second case report. (19020944)
2009
26
Rosai-Dorfman disease: sinus histiocytosis with massive lymphadenopathy. (21686390)
2009
27
Rosai-Dorfman disease of lung: a case report and review of the literatures. (19493405)
2009
28
Rosai-Dorfman disease causing spinal cord compression: case report. (18496169)
2008
29
Extranodal Rosai-Dorfman disease with multilevel lumbar spinal lesions. (18590411)
2008
30
A rare case of extranodal Rosai-Dorfman disease. (16980664)
2006
31
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) treated with 2-chlorodeoxyadenosine. (16302214)
2006
32
Rosai-Dorfman disease mimicking a sphenoid wing meningioma. (15805669)
2005
33
Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease): evidence for a dendritic cell derivation? (16761737)
2005
34
Nasal and paranasal sinus manifestation of Rosai-Dorfman disease. (16218519)
2005
35
Isolated Rosai Dorfman disease of the central nervous system presenting as dural-based and intraparenchymal lesions. (15943162)
2005
36
Clinical and histopathologic spectrum of cutaneous Rosai-Dorfman disease in Taiwan. (15583585)
2004
37
Sinus histocytosis with massive lymphadenopathy (Rosai-Dorfman disease) in a patient with primary Sjogren's syndrome. (15163114)
2004
38
Extranodal sinus histiocytosis (Rosai-Dorfman disease) of the brain parenchyma. (12601463)
2003
39
Cutaneous rosai-dorfman disease is a distinct clinical entity. (12357197)
2002
40
Cutaneous sinus histiocytosis (Rosai-Dorfman disease) presenting clinically as vasculitis. (12004323)
2002
41
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of two cases with fine-needle aspiration cytology. (11135468)
2001
42
Rosai-Dorfman disease mimicking parasagittal meningioma: case presentation and review of literature. (10874144)
2000
43
Rosai dorfman disease - an unusual presentation: A case report. (23119695)
2000
44
Cutaneous Rosai-Dorfman disease--a pathologic review of 2 cases. (11063196)
2000
45
Importance of Papanicolaou-stained smears and immunocytochemistry in the diagnosis of Rosai-Dorfman disease. (10097737)
1999
46
Nasal manifestation of extranodal Rosai-Dorfman disease--diagnosis and management. (10435144)
1999
47
Review of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) of head and neck. (10579239)
1999
48
Immunohistologic findings and adhesion molecule pattern in primary pure cutaneous Rosai-Dorfman disease with xanthomatous features. (9700380)
1998
49
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
50
Monokine expression in Langerhans' cell histiocytosis and sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) (8691347)
1996

Variations for Rosai-Dorfman Disease

About this section

Expression for genes affiliated with Rosai-Dorfman Disease

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

Pathways for genes affiliated with Rosai-Dorfman Disease

About this section

GO Terms for genes affiliated with Rosai-Dorfman Disease

About this section

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:00069539.7CD163, 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:000419010.1CTSD, CTSE
2low-density lipoprotein particle bindingGO:00301699.6CRP, STAB1
3scavenger receptor activityGO:00050449.6CD163, STAB1
4protein homodimerization activityGO:00428038.8CR2, CTSE, PDGFRA, S100B

Sources for Rosai-Dorfman Disease

About this section
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