MCID: RSD004
MIFTS: 39

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 breast abscess and meningitis, 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, bone and skin.

Related Diseases for Rosai-Dorfman Disease

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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

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

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:

33
Lymph node, Bone, Skin, Breast, Endothelial, Brain, Thyroid

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 553)
idTitleAuthorsYear
1
Single Bilateral Dexamethasone Implant in Addition to Panretinal Photocoagulation and Oral Azathioprine Treatment in IRVAN Syndrome. (25802506)
2015
2
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution. (26230955)
2015
3
Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study. (25311314)
2015
4
Diagnostic benefits of adrenocortical scintigraphy in hepatic adrenal rest tumor. (25283230)
2014
5
Effects of combinational CYP3A5 6986A>G polymorphism in graft liver and native intestine on the pharmacokinetics of tacrolimus in liver transplant patients: a meta-analysis. (24378577)
2014
6
Pathomorphological changes of bone marrow adipocytes in process of steroid-associated osteonecrosis. (23696921)
2013
7
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. (24229697)
2013
8
Rosacea - S1 guideline. (23647643)
2013
9
Varicose veins: diagnosis and management. (24288936)
2013
10
The presence of HIV-1 Tat protein second exon delays fas protein-mediated apoptosis in CD4+ T lymphocytes: a potential mechanism for persistent viral production. (23364796)
2013
11
Effect of emodin on endoplasmic reticulum stress in rats with severe acute pancreatitis. (23605470)
2013
12
miRNA-130a targets ATG2B and DICER1 to inhibit autophagy and trigger killing of chronic lymphocytic leukemia cells. (22350415)
2012
13
High thymidine kinase 1 (TK1) expression is a predictor of poor survival in patients with pT1 of lung adenocarcinoma. (22143937)
2012
14
The MTHFR C677T polymorphism and prostate cancer risk: new findings from a meta-analysis of 7306 cases and 8062 controls. (22938427)
2012
15
Association of common polymorphisms in the fractalkine receptor (CX3CR1) with obesity. (20523302)
2011
16
Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. (21220025)
2011
17
Management of seizures in Lennox-Gastaut syndrome. (21351810)
2011
18
Propylthiouracil induced anti-neutrophil cytoplasmic antibody-associated vasculitis with bone marrow plasmacytosis and granulocytopenia. (19493451)
2009
19
Combined primary neuroendocrine carcinoma and hepatocellular carcinoma of the liver. (19686999)
2009
20
Dual regulation of the ATP-sensitive potassium channel by activation of cGMP-dependent protein kinase. (18231807)
2008
21
Lissencephaly type II. (18809028)
2008
22
High-dose erythropoietin alters platelet reactivity and bleeding time in rodents in contrast to the neuroprotective variant carbamyl-erythropoietin (CEPO). (18392330)
2008
23
Expression and significance of BLyS/April in patients with acute idiopathic thrombocytopenic purpura]. (19175985)
2008
24
Epigenetic DNA-methylation regulation of genes coding for lipid raft-associated components: a role for raft proteins in cell transformation and cancer progression (review). (17487380)
2007
25
Amiodarone-induced thyrotoxicosis: clinical course and predictors of outcome. (17572251)
2007
26
Magnesium, essential for base excision repair enzymes, inhibits substrate binding of N-methylpurine-DNA glycosylase. (16901897)
2006
27
Chronic treatment with prednisolone represses the circadian oscillation of clock gene expression in mouse peripheral tissues. (16269518)
2006
28
Genetic and environmental influences on therapeutic and toxicity outcomes: studies with CYP2A6. (18666753)
2006
29
Localization and characterization of pituitary adenylate cyclase-activating polypeptide receptors in the human cerebellum during development. (16572459)
2006
30
A recombinant cell bioassay for measurement of overall estrogenic activity of serum: preliminary results in women with breast cancer. (15387438)
2004
31
Relation of C-reactive protein to features of the metabolic syndrome in normal glucose tolerant, impaired glucose tolerant, and newly diagnosed type 2 diabetic subjects. (12629450)
2003
32
Isoform-specific phosphoinositide 3-kinase inhibitors as therapeutic agents. (12901953)
2003
33
Differential effects of retinoic acid on the growth of isogenic metastatic and non-metastatic breast cancer cell lines and their association with distinct expression of retinoic acid receptor beta isoforms 2 and 4. (12579317)
2003
34
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)
2002
35
Hepatocyte growth factor and stem cell factor involvement in paracrine interplays of theca and granulosa cells in the human ovary. (11334911)
2001
36
Reversible posterior leukoencephalopathy syndrome in hepatitis C virus-positive long-term hemodialysis patients. (11273899)
2001
37
Activation via multiple signaling pathways induces down-regulation of platelet-activating factor receptors on human B lymphocytes. (10946267)
2000
38
Screening for ESR mutations in breast and ovarian cancer patients. (9195227)
1997
39
Significance of elevated procollagen-III-peptide and transforming growth factor-beta levels of bronchoalveolar lavage fluids from idiopathic pulmonary fibrosis patients. (9163845)
1997
40
Remarkably suppressed manganese superoxide dismutase activity in malignant pheochromocytoma. (7752317)
1995
41
Serum levels of insulin-like growth factor I and insulin-like growth factor-binding protein-1 and -3 in women with regular menstrual cycles. (7538473)
1995
42
Ultrastructural localization of ras-related proteins using epitope- tagged plasmids. (7537292)
1995
43
Potter's syndrome: a temporal bone histopathological study. (8371331)
1993
44
Location of a membrane-bound carbonic anhydrase isoenzyme (CA IV) in the human male reproductive tract. (8468457)
1993
45
Refined crystal structure of the influenza virus N9 neuraminidase-NC41 Fab complex. (1381757)
1992
46
Effect of tumor necrosis factor on the generation of chlorinated oxidants by adherent human neutrophils. (1649239)
1991
47
Tracheal agenesis: a case report and literature review. (6740752)
1984
48
Helminthiasis. Nematode infections. (4925107)
1970
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