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, 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, 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
  • 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Juvenile Xanthogranuloma:

32
Skin, Bone, Tongue, 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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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
A histiocytic disorder that does not easily fit into the classification of the juvenile xanthogranuloma family. (23789603)
2013
2
Central nervous system juvenile xanthogranuloma after langerhans cell histiocytosis. (23109301)
2013
3
Giant congenital juvenile xanthogranuloma. (23235892)
2013
4
Clustered juvenile xanthogranuloma. (22957538)
2013
5
A case of Juvenile Xanthogranuloma in the Nasal Cavity of a Neonate. (24082228)
2013
6
Juvenile xanthogranuloma with lichenoid appearance. (21980990)
2012
7
Severe persistent bone marrow failure following therapy with 2-chlorodeoxyadenosine for relapsing juvenile xanthogranuloma of the brain. (21384540)
2012
8
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia. (19785027)
2010
9
Juvenile xanthogranuloma with hematological dysfunction treated with 2CDA-AraC. (20589639)
2010
10
Congenital disseminated juvenile xanthogranuloma with unusual skin presentation and renal involvement. (19515049)
2009
11
Solitary juvenile xanthogranuloma in the upper cervical spine: case report and review of the literatures. (18228052)
2008
12
An infant with juvenile xanthogranuloma, multiple cafAc-au-lait macules, acute myeloid leukaemia: an incomplete, rare form of triple association? (18331316)
2008
13
Long-term follow-up of solitary intracerebral juvenile xanthogranuloma. Case report and review of the literature. (19066439)
2008
14
Juvenile xanthogranuloma. (16550899)
2006
15
Juvenile xanthogranuloma of the finger. (16445413)
2006
16
Juvenile xanthogranuloma: a case report of a preterm baby. (16516638)
2006
17
Juvenile xanthogranuloma of the corneoscleral limbus. (16015097)
2005
18
Anetoderma developing in juvenile xanthogranuloma. (15941443)
2005
19
Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas. (15342987)
2004
20
Juvenile xanthogranuloma of the iris as the first manifestation of a neurofibromatosis. (12795438)
2003
21
Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. (12717244)
2003
22
Juvenile xanthogranuloma: a rare cause of subglottic cyst and stenosis. (14569709)
2003
23
Isolated juvenile xanthogranuloma of the subglottis: case report. (11295817)
2001
24
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
25
Juvenile xanthogranuloma of the tongue. (11077357)
2000
26
Anetoderma in a patient with juvenile xanthogranuloma. (10233285)
1999
27
Juvenile xanthogranuloma occurring in the oral cavity: case report and histopathological findings. (9416582)
1997
28
Juvenile xanthogranuloma of temporal bone--a case report. (9292136)
1997
29
Juvenile xanthogranuloma: report of case. (8530991)
1996
30
Juvenile xanthogranuloma beneath a fingernail. (8864606)
1996
31
Juvenile xanthogranuloma of the iris with bilateral spontaneous hyphema. (8771527)
1996
32
Juvenile xanthogranuloma: forms of systemic disease and their clinical implications. (8765620)
1996
33
Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. (8651728)
1996
34
Benign juvenile xanthogranuloma of the larynx. (7607823)
1995
35
Juvenile xanthogranuloma. (7616589)
1995
36
Solitary giant xanthogranuloma and benign cephalic histiocytosis--variants of juvenile xanthogranuloma. (7577591)
1995
37
Giant congenital juvenile xanthogranuloma. (7971557)
1994
38
Early treatment of juvenile xanthogranuloma of the iris with subconjunctival steroids. (8435403)
1993
39
Juvenile xanthogranuloma with extracutaneous lesions. (1408451)
1992
40
Juvenile xanthogranuloma. (1772515)
1991
41
Juvenile xanthogranuloma of the paravertebral soft tissue in infancy: a report of two cases. (1707526)
1991
42
Giant juvenile xanthogranuloma: exophytic and endophytic variants. (2123341)
1990
43
Juvenile xanthogranuloma underneath a toenail. (3115685)
1987
44
Multiple recurrences of juvenile xanthogranuloma of the eyelid. (3928867)
1985
45
Radiation therapy in the management of ocular juvenile xanthogranuloma. (6809712)
1982
46
Juvenile xanthogranuloma with recurrent subdural effusions. (6789861)
1981
47
Juvenile xanthogranuloma of the ciliary body in an adult. (4977437)
1969
48
Juvenile xanthogranuloma with extracutaneous lesions. A case report and review of the literature. (4954676)
1966
49
NEVOXANTHO-ENDOTHELIOMA (JUVENILE XANTHOGRANULOMA) OF THE EYE CURED WITH X-RAY THERAPY. (14176448)
1964
50
Juvenile xanthogranuloma (nevoxanthoendothelioma). (13999800)
1963

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