MCID: JVN003
MIFTS: 36

Juvenile Xanthogranuloma malady

Categories: Skin diseases, Rare diseases, Immune diseases

Aliases & Classifications for Juvenile Xanthogranuloma

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Juvenile Xanthogranuloma:

Name: Juvenile Xanthogranuloma 10 47 12 51 65
Multiple Eruptive Juvenile Xanthogranuloma 10
Xanthogranuloma, Juvenile 36
 
Naevoxanthoendothelioma 10
Xanthoma Neviforme 10

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:4424
MeSH36 D014972
NCIt42 C3451
Orphanet51 158000
ICD10 via Orphanet28 D76.3
MESH via Orphanet37 D014972
UMLS via Orphanet66 C0043324
UMLS65 C0043324

Summaries for Juvenile Xanthogranuloma

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Wikipedia:68 Juvenile xanthogranuloma is a form of histiocytosis, classified as \"non-Langerhans cell... more...

MalaCards based summary: Juvenile Xanthogranuloma, also known as multiple eruptive juvenile xanthogranuloma, is related to melanoma and endotheliitis, and has symptoms including abnormality of the oral cavity, visual impairment and abnormality of the anterior chamber. An important gene associated with Juvenile Xanthogranuloma is F13A1 (Coagulation Factor XIII A Chain). Affiliated tissues include lung, skin and colon, and related mouse phenotypes are pigmentation and integument.

Related Diseases for Juvenile Xanthogranuloma

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Graphical network of the top 20 diseases related to Juvenile Xanthogranuloma:



Diseases related to juvenile xanthogranuloma

Symptoms for Juvenile Xanthogranuloma

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Symptoms:

 51 (show all 9)
  • follicular/erythematous/edematous papules/milium
  • anterior chamber anomaly
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • visual loss/blindness/amblyopia
  • enanthema/aphtosa/aphta/leukoplakia
  • cafe-au-lait spot
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • structural anomalies of the respiratory system and diaphragm
  • myeloproliferative syndrome/chronic leukemia

HPO human phenotypes related to Juvenile Xanthogranuloma:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity occasional (7.5%) HP:0000163
2 visual impairment occasional (7.5%) HP:0000505
3 abnormality of the anterior chamber occasional (7.5%) HP:0000593
4 cafe-au-lait spot occasional (7.5%) HP:0000957
5 leukemia occasional (7.5%) HP:0001909
6 abnormality of the respiratory system occasional (7.5%) HP:0002086
7 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

Drugs & Therapeutics for Juvenile Xanthogranuloma

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Interventional clinical trials:

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

Search NIH Clinical Center for Juvenile Xanthogranuloma


Cochrane evidence based reviews: xanthogranuloma, juvenile

Genetic Tests for Juvenile Xanthogranuloma

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Anatomical Context for Juvenile Xanthogranuloma

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MalaCards organs/tissues related to Juvenile Xanthogranuloma:

33
Lung, Skin, Colon, Eye, Endothelial, Breast, Kidney

Animal Models for Juvenile Xanthogranuloma or affiliated genes

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MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8NF1, PMEL, TYR
2MP:00107717.6LYZ, NF1, PMEL, S100B, TYR

Publications for Juvenile Xanthogranuloma

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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 382)
idTitleAuthorsYear
1
Cyclosporine-Induced Posterior Reversible Encephalopathy Syndrome in a Patient with Pemphigus Vulgaris. (26273167)
2015
2
Cellular senescence checkpoint function determines differential Notch1-dependent oncogenic and tumor-suppressor activities. (24931169)
2015
3
Oral intake of curcumin markedly activated CYP 3A4: in vivo and ex-vivo studies. (25300360)
2014
4
Varicose veins: diagnosis and management. (24288936)
2013
5
Can we optimize our teams? Multidisciplinary care for multiple sclerosis. (24289841)
2013
6
Plasma viremia and cellular HIV-1 DNA persist despite autologous hematopoietic stem cell transplantation for HIV-related lymphoma. (23493152)
2013
7
Epithelioid hemangioma of the spine: a case series of six patients and review of the literature. (24045160)
2013
8
The alterations of matrix metalloproteinase-9 in mouse brainstem during herpes simplex virus type 1-induced facial palsy. (23817985)
2013
9
The expression and significance of MRP1, LRP, TOPOIII^, and BCL2 in tongue squamous cell carcinoma. (21793937)
2012
10
Scleredema of Buschke following Mycoplasma pneumoniae respiratory infection. (21413959)
2011
11
The effect of vitamin A supplementation and diphtheria-tetanus-pertussis vaccination on parasitaemia in an experimental murine malaria model. (21105844)
2011
12
Evolution and comparative genomics of subcellular specializations: EST sequencing of Torpedo electric organ. (21429463)
2011
13
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. (21325262)
2011
14
Evaluation of anti-invasion effect of resveratrol and related methoxy analogues on human hepatocarcinoma cells. (20131808)
2010
15
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. (20089612)
2010
16
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (20454695)
2010
17
Cysteine mutagenesis reveals transmembrane residues associated with charge translocation in prestin. (19926791)
2010
18
Erectile dysfunction and cardiovascular disease: efficacy and safety of phosphodiesterase type 5 inhibitors in men with both conditions. (19181648)
2009
19
Inhibition of hypoxia inducible factor by phenethyl isothiocyanate. (19376091)
2009
20
Expression of activated signal transducer and activator of transcription 3 predicts poor clinical outcome in gastric adenocarcinoma. (19664131)
2009
21
Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. (18187064)
2008
22
A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma. (17497722)
2007
23
Adiponectin deficiency protects mice from chemically induced colonic inflammation. (17258715)
2007
24
ALDH1 is a marker of normal and malignant human mammary stem cells and a predictor of poor clinical outcome. (18371393)
2007
25
Colorectal resection in patients with ovarian and primary peritoneal carcinoma. (16730631)
2006
26
The CENP-B homolog, Abp1, interacts with the initiation protein Cdc23 (MCM10) and is required for efficient DNA replication in fission yeast. (17112379)
2006
27
Differential actions of IL-1 alpha and IL-1 beta in glial cells share common IL-1 signalling pathways. (15671867)
2005
28
Thoracic actinomycosis as a cause of superior vena cava syndrome: report of a case. (15108086)
2004
29
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. (15099588)
2004
30
A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease. (12711671)
2003
31
Adult autoimmune enteropathy treated successfully with tacrolimus. (14581765)
2003
32
Ocular TFF-peptides: new mucus-associated secretory products of conjunctival goblet cells. (12613926)
2002
33
Leydig cell function after cryptorchidism: evidence of the beneficial result of early surgery. (11912442)
2002
34
Clinical significance of MT1-MMP mRNA expression in breast cancer. (11182063)
2001
35
Exercise intensity based on heart rate while walking in spastic cerebral palsy. (11759573)
2001
36
Absence of congenital prethrombotic disorders in children with Legg-Perthes disease. (10647105)
2000
37
Leiomyomatosis peritonealis disseminata in a postmenopausal woman. (11045333)
2000
38
CYP2D6 genotyping in patients on psychoactive drug therapy. (11097351)
2000
39
The Mycobacterium xenopi GyrA protein splicing element: characterization of a minimal intein. (9335286)
1997
40
Endomyocardial fibrosis in Zimbabwe--how rare is it? A report of two cases. (8997819)
1996
41
A chimeric proinsulin-CD5 protein expressed in AtT-20 cells is directed to the cell surface via the constitutive pathway. (7545131)
1995
42
Purification of natural human IFN-gamma antibodies. (1959942)
1991
43
Stump the experts. Extra-mammary Paget's disease in the perianal region. (2157742)
1990
44
Cytosolic calcium mobilization and thromboxane synthesis in a human megakaryocytic leukemia cell. (2108872)
1990
45
The enhanced relative intensity of cAMP-dependent protein phosphorylation in stomach tumors]. (2169140)
1990
46
Intestinal transit in healthy southern Indian subjects and in patients with tropical sprue. (2920924)
1989
47
Plexiform neurofibroma infiltrating the facial nerve. (420602)
1979
48
Prednisone therapy of acute alcoholic hepatitis. Report of a controlled trial. (4751740)
1973
49
50

Variations for Juvenile Xanthogranuloma

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Expression for genes affiliated with Juvenile Xanthogranuloma

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Search GEO for disease gene expression data for Juvenile Xanthogranuloma.

Pathways for genes affiliated with Juvenile Xanthogranuloma

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GO Terms for genes affiliated with Juvenile Xanthogranuloma

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Sources for Juvenile Xanthogranuloma

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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