MCID: JVN003
MIFTS: 50

Juvenile Xanthogranuloma malady

Skin diseases category

Summaries for Juvenile Xanthogranuloma

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63Wikipedia, 32MalaCards
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Wikipedia:63 Juvenile xanthogranuloma is a form of histiocytosis, classified as \"non-Langerhans cell... more...

MalaCards: Juvenile Xanthogranuloma, also known as multiple eruptive juvenile xanthogranuloma, is related to histiocytosis and langerhans-cell histiocytosis, and has symptoms including anterior chamber anomaly, subcutaneous nodules/lipomas/tumefaction/swelling and follicular/erythematous/edematous papules/milium. An important gene associated with Juvenile Xanthogranuloma is F13A1 (coagulation factor XIII, A1 polypeptide), and among its related pathways is Selected targets of HNF1. The compounds s 100 and reticulin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and tongue, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Aliases & Classifications for Juvenile Xanthogranuloma

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8Disease Ontology, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

juvenile xanthogranuloma 8 10 44 48 60
multiple eruptive juvenile xanthogranuloma 8
naevoxanthoendothelioma 8
xanthoma neviforme 8


External Ids:

Disease Ontology8 DOID:4424
MeSH34 D014972
NCIt39 C3451
MESH via Orphanet35 D014972
ICD10 via Orphanet26 D76.3
SNOMED-CT via Orphanet57 400031009, 400204000
UMLS via Orphanet61 C0043324

Related Diseases for Juvenile Xanthogranuloma

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Juvenile Xanthogranuloma:



Diseases related to juvenile xanthogranuloma

Clinical Features for Juvenile Xanthogranuloma

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Juvenile Xanthogranuloma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Juvenile Xanthogranuloma

Drug clinical trials:

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Search NIH Clinical Center for Juvenile Xanthogranuloma

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Genetic Tests for Juvenile Xanthogranuloma

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Anatomical Context for Juvenile Xanthogranuloma

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32MalaCards
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MalaCards organs/tissues related to Juvenile Xanthogranuloma:

32
Skin, Bone, Tongue, Bone marrow, Brain, Liver, Myeloid, Lung, Heart, Retina, Eye, T cells, Kidney, Testis

Animal Models for Juvenile Xanthogranuloma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7PMEL, MLANA, TYR, KIT
2MP:00030128.5KIT, TYR, TRG, MLANA, PMEL
3MP:00107718.1KIT, TYR, TRG, MLANA, S100B, PMEL

Publications for Juvenile Xanthogranuloma

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50PubMed
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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 346)
idTitleAuthorsYear
1
Juvenile Xanthogranuloma: Diverse Presentations of Noncutaneous Disease. (24065046)
2013
2
Isolated intraspinal juvenile xanthogranuloma in an infant presenting as acute paraplegia. (23254572)
2013
3
Isolated juvenile xanthogranuloma in the larynx of a three-year-old child. (23801051)
2013
4
A Large Juvenile Xanthogranuloma within the Tongue. (24326868)
2013
5
Cardiac juvenile xanthogranuloma in an infant presenting with pericardial effusion. (22691125)
2013
6
Cataract surgery in juvenile xanthogranuloma: Case report and a brief review of literature. (24145561)
2013
7
Infantile juvenile xanthogranuloma of the chest wall mimicking mesenchymal hamartoma: report of a case. (22864545)
2012
8
Neonatal systemic juvenile xanthogranuloma with an ominous presentation and successful treatment. (21695102)
2011
9
Fine-needle cytology of cutaneous juvenile xanthogranuloma and langerhans cell histiocytosis. (21491610)
2011
10
Rapid-growing juvenile xanthogranuloma: The reality of a second opinion teleconsultation. Letters to the editor. (20695867)
2010
11
Histiocyte-rich pleomorphic mastocytoma: an uncommon variant mimicking juvenile xanthogranuloma and Langerhans cell histiocytosis. (19602070)
2009
12
Gingival juvenile xanthogranuloma in an adult patient: case report with immunohistochemical analysis and literature review. (19138643)
2009
13
What's your diagnosis? Juvenile xanthogranuloma of the iris. (18404952)
2008
14
Juvenile xanthogranuloma: case report and review of the literature. (19721800)
2008
15
Central nervous system juvenile xanthogranuloma with malignant transformation. (17520744)
2008
16
Congenital plaque on the chest. Diagnosis: solitary giant congenital juvenile xanthogranuloma. (17376208)
2007
17
An unusual presentation of juvenile xanthogranuloma. (17958822)
2007
18
Isolated juvenile xanthogranuloma in the bone marrow: report of a case and review of the literature. (17378689)
2007
19
Deep-seated congenital juvenile xanthogranuloma: report of a case with emphasis on cytologic features. (17536559)
2007
20
Glaucoma in juvenile xanthogranuloma. (16912017)
2006
21
Juvenile xanthogranuloma associated with contralateral lymphadenopathy. (16190992)
2005
22
Pathology quiz case. Nasal juvenile xanthogranuloma (JXG). (15655197)
2005
23
FNA of cutaneous juvenile xanthogranuloma--a case report. (16761754)
2005
24
Intramuscular juvenile xanthogranuloma in an adult: a case report with immunohistochemical study. (15679444)
2005
25
Linear juvenile xanthogranuloma. (15283809)
2004
26
Juvenile xanthogranuloma with presumed involvement of the optic disc and retina. (15477475)
2004
27
Juvenile xanthogranuloma of the proximal nail fold. (12869149)
2003
28
Juvenile xanthogranuloma of the limbus in an adult. (12096972)
2002
29
Bilateral multifocal uveal juvenile xanthogranuloma in a young boy with systemic disease. (12107521)
2002
30
Juvenile xanthogranuloma as a sequel to Langerhans cell histiocytosis: a report of three cases. (11488823)
2001
31
Juvenile xanthogranuloma: concurrent involvement of skin and eye. (11588432)
2001
32
Mononuclear variant of juvenile xanthogranuloma in the oral cavity of an adult patient. (11298565)
2001
33
Juvenile xanthogranuloma with tracheal and bronchial involvement. (10397147)
1999
34
Uncommon clinical presentations of juvenile xanthogranuloma. (9693185)
1998
35
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
36
Diagnosis and management of iris juvenile xanthogranuloma. (9027680)
1997
37
Juvenile xanthogranuloma. (9091465)
1997
38
An unusual case of benign neonatal hemangiomatosis mimicking juvenile xanthogranuloma. (9169340)
1997
39
Urticaria pigmentosa and juvenile xanthogranuloma: case report and brief review of the literature. (9122068)
1996
40
Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. (7632061)
1995
41
Juvenile xanthogranuloma and acute leukemia: a case report. (8177146)
1994
42
Solitary orbital involvement with juvenile xanthogranuloma. (2123087)
1990
43
Congenital oral juvenile xanthogranuloma: report of a case. (3112345)
1987
44
Juvenile xanthogranuloma of the testis. (3923211)
1985
45
Association of juvenile xanthogranuloma with juvenile myeloid leukemia. (6422862)
1984
46
Membrane activity in juvenile xanthogranuloma. (6782143)
1981
47
Juvenile xanthogranuloma diagnosed by paracentesis. (4204591)
1974
48
Juvenile xanthogranuloma. An atypical case with study of ultrastructure. (4621595)
1972
49
Juvenile xanthogranuloma of the cornea and conjunctiva. (4966156)
1967
50
JUVENILE XANTHOGRANULOMA: REPORT OF A CASE. (14261713)
1965

Genetic Variations for Juvenile Xanthogranuloma

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Expression for genes affiliated with Juvenile Xanthogranuloma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Xanthogranuloma

Search GEO for disease gene expression data for Juvenile Xanthogranuloma.

Pathways for genes affiliated with Juvenile Xanthogranuloma

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12EMD Millipore
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Pathways related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TYR, F13A1

Compounds for genes affiliated with Juvenile Xanthogranuloma

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 59Tocris Bioscience
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Compounds related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1s 1004410.1F13A1, S100B
2reticulin4410.1F13A1, S100B
3dopachrome4410.0TYR, PMEL
4b 723449.9F13A1, S100B
5hemocyanin449.9TYR, PMEL
6gsts449.7S100B, KIT
7formaldehyde44 2410.7S100B, TYR, KIT
8paclitaxel44 49 1111.5KIT, TYR, S100B
9hematoxylin449.4S100B, MLANA, F13A1, KIT
10testosterone44 59 11 2412.1S100B, TRG, TYR, KIT
11vegf448.9KIT, TYR, F13A1, S100B
12paraffin448.7KIT, FSCN1, TYR, F13A1, MLANA, S100B

GO Terms for genes affiliated with Juvenile Xanthogranuloma

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16Gene Ontology
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Cellular components related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:0424709.4TYR, MLANA, PMEL

Products for genes affiliated with Juvenile Xanthogranuloma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Xanthogranuloma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet