MCID: JVN003
MIFTS: 53

Juvenile Xanthogranuloma malady

Skin diseases, Rare diseases, Immune diseases categories

Summaries for Juvenile Xanthogranuloma

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 langerhans-cell histiocytosis and histiocytosis, and has symptoms including anterior chamber anomaly, visual loss/blindness/amblyopia and chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis. 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, tongue and bone, and related mouse phenotypes are pigmentation and normal.

Aliases & Classifications for Juvenile Xanthogranuloma

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9Disease Ontology, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases, Immune diseases
Orphanet: 50 
Rare skin diseases


Aliases & Descriptions:

juvenile xanthogranuloma 9 11 46 50 63
multiple eruptive juvenile xanthogranuloma 9
naevoxanthoendothelioma 9
xanthoma neviforme 9


External Ids:

Disease Ontology9 DOID:4424
NCIt41 C3451
MeSH36 D014972
MESH via Orphanet37 D014972
ICD10 via Orphanet27 D76.3
SNOMED-CT via Orphanet60 400031009, 400204000
UMLS via Orphanet64 C0043324

Related Diseases for Juvenile Xanthogranuloma

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18GeneCards, 19GeneDecks
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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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50Orphanet
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Symptoms:

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

Drugs & Therapeutics for Juvenile Xanthogranuloma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Juvenile Xanthogranuloma

Drug clinical trials:

Search ClinicalTrials for Juvenile Xanthogranuloma

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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34MalaCards
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MalaCards organs/tissues related to Juvenile Xanthogranuloma:

34
Skin, Tongue, Bone, Bone marrow, Brain, Myeloid, Liver, Eye, Retina, Lung, Heart, Testis, T cells, Kidney

Animal Models for Juvenile Xanthogranuloma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9MLANA, TYR, PMEL, KIT
2MP:00028738.2TRG, KIT, S100B, STAB1, TYR
3MP:00030127.9MLANA, TYR, PMEL, KIT, TRG
4MP:00107717.9TRG, KIT, S100B, PMEL, TYR, MLANA

Publications for Juvenile Xanthogranuloma

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53PubMed
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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 339)
idTitleAuthorsYear
1
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
2
Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)
2013
3
Infantile juvenile xanthogranuloma of the chest wall mimicking mesenchymal hamartoma: report of a case. (22864545)
2012
4
Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. (22977671)
2012
5
Juvenile xanthogranuloma presenting as bilateral non-infiltrative extraconal superior orbital tumour in a 27 year old nigerian woman: features, management and outcome. (23071425)
2012
6
Nonlipidized juvenile xanthogranuloma: an unusual variant with a potential diagnostic pitfall. (22204961)
2012
7
Solitary juvenile xanthogranuloma in the lung of a young adult. (21753717)
2011
8
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
9
Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. (21626171)
2011
10
Neonatal systemic juvenile xanthogranuloma with an ominous presentation and successful treatment. (21695102)
2011
11
Structural correlations between dermoscopic and histopathological features of juvenile xanthogranuloma. (20698915)
2011
12
Rapid-growing juvenile xanthogranuloma: The reality of a second opinion teleconsultation. Letters to the editor. (20695867)
2010
13
Solitary juvenile xanthogranuloma of the temporal muscle and bone penetrating the dura mater in a 2-month-old boy. (19951050)
2009
14
Solitary juvenile xanthogranuloma in the upper cervical spine: case report and review of the literatures. (18228052)
2008
15
An 'eruptive' variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis. (18840155)
2008
16
What's your diagnosis? Juvenile xanthogranuloma of the iris. (18404952)
2008
17
Juvenile xanthogranuloma of the finger: an unusual localization. (17683396)
2007
18
Juvenile xanthogranuloma en plaque. (18036001)
2007
19
Congenital plaque on the chest. Diagnosis: solitary giant congenital juvenile xanthogranuloma. (17376208)
2007
20
Juvenile xanthogranuloma associated with contralateral lymphadenopathy. (16190992)
2005
21
Linear juvenile xanthogranuloma. (15283809)
2004
22
Successful treatment of congenital systemic juvenile xanthogranuloma with Langerhans cell histiocytosis-based chemotherapy. (15167350)
2004
23
Histopathologic maturation of juvenile xanthogranuloma in a short period. (11358553)
2001
24
Isolated juvenile xanthogranuloma of the subglottis: case report. (11295817)
2001
25
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
26
Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature. (10658117)
1999
27
Severe systemic toxicity caused by brimonidine drops in an infant with presumed juvenile xanthogranuloma. (10707152)
1999
28
Giant juvenile xanthogranuloma of the tongue. (10442777)
1999
29
Juvenile xanthogranuloma of the eyelid in an adult. (9823370)
1998
30
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
31
Diagnosis and management of iris juvenile xanthogranuloma. (9027680)
1997
32
Juvenile xanthogranuloma occurring in the oral cavity: case report and histopathological findings. (9416582)
1997
33
Juvenile xanthogranuloma: report of case. (8530991)
1996
34
Juvenile xanthogranuloma on the palm. (9122074)
1996
35
Benign juvenile xanthogranuloma of the larynx. (7607823)
1995
36
Juvenile xanthogranuloma. (7616589)
1995
37
Ocular lesions in patients with cutaneous juvenile xanthogranuloma. (8123585)
1994
38
Juvenile xanthogranuloma with extra-cutaneous lesions--a case report. (7748839)
1994
39
Aquagenic pruritus associated with juvenile xanthogranuloma. (8348719)
1993
40
Early treatment of juvenile xanthogranuloma of the iris with subconjunctival steroids. (8435403)
1993
41
Unusual aspects of juvenile xanthogranuloma. (8408830)
1993
42
Congenital macronodular juvenile xanthogranuloma of the eyelid. (1923358)
1991
43
Juvenile xanthogranuloma and neurofibromatosis. (1792210)
1991
44
Juvenile xanthogranuloma with pulmonary lesions. (3124069)
1988
45
Pathologic quiz case 1. Adolescent (juvenile) xanthogranuloma. (3118907)
1987
46
Juvenile xanthogranulomas and xanthoma disseminatum--variations on a single theme. (3088071)
1986
47
Juvenile xanthogranuloma of the oral mucosa. (6795560)
1981
48
Juvenile xanthogranuloma with recurrent subdural effusions. (6789861)
1981
49
Juvenile xanthogranuloma and urticaria pigmentosa. (804295)
1975
50
Juvenile xanthogranuloma. (4629468)
1972

Variations for Juvenile Xanthogranuloma

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Expression for genes affiliated with Juvenile Xanthogranuloma

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2BioGPS, 16Gene 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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51PathCards, 13EMD Millipore
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Pathways related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Juvenile Xanthogranuloma

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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1s 1004610.1S100B, F13A1
2reticulin4610.1F13A1, S100B
3dopachrome4610.0TYR, PMEL
4b 7234610.0S100B, F13A1
5hemocyanin469.9PMEL, TYR
6gsts469.9KIT, S100B
7formaldehyde46 2510.7KIT, S100B, TYR
8paclitaxel46 52 1211.5TYR, S100B, KIT
9lactate469.5KIT, S100B, MLANA
10hematoxylin469.5KIT, S100B, F13A1, MLANA
11vegf469.4TYR, F13A1, S100B, KIT
12glutamine469.2F13A1, S100B, KIT
13retinoic acid46 2510.0KIT, S100B, FSCN1, TYR
14testosterone46 62 25 1211.9TYR, S100B, KIT, TRG
15paraffin468.7KIT, MLANA, TYR, F13A1, FSCN1, S100B

GO Terms for genes affiliated with Juvenile Xanthogranuloma

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17Gene Ontology
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Cellular components related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

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

Biological processes related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:0082839.4S100B, FSCN1, TYR

Products for genes affiliated with Juvenile Xanthogranuloma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Xanthogranuloma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet