MCID: JVN003
MIFTS: 53

Juvenile Xanthogranuloma malady

Skin diseases, Rare diseases categories

Summaries for Juvenile Xanthogranuloma

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Wikipedia:65 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 langerhans-cell histiocytosis and histiocytosis, 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, 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, eye and bone, and related mouse phenotypes are pigmentation and normal.

Aliases & Classifications for Juvenile Xanthogranuloma

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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Juvenile Xanthogranuloma, Aliases & Descriptions:

Name: Juvenile Xanthogranuloma 10 12 45 49 62
Multiple Eruptive Juvenile Xanthogranuloma 10 62
 
Naevoxanthoendothelioma 10
Xanthoma Neviforme 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:4424
MeSH35 D014972
NCIt40 C3451
Orphanet49 158000
MESH via Orphanet36 D014972
ICD10 via Orphanet28 D76.3
UMLS via Orphanet63 C0043324

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:

 49 (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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Drug clinical trials:

Search ClinicalTrials for Juvenile Xanthogranuloma

Search NIH Clinical Center for Juvenile Xanthogranuloma

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

Animal Models for Juvenile Xanthogranuloma or affiliated genes

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MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9MLANA, KIT, PMEL, TYR
2MP:00028738.2KIT, S100B, STAB1, TYR, TRG
3MP:00030127.9MLANA, TRG, KIT, PMEL, TYR
4MP:00107717.9MLANA, PMEL, S100B, KIT, TRG, TYR

Publications for Juvenile Xanthogranuloma

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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 370)
idTitleAuthorsYear
1
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. (25801534)
2015
2
Juvenile xanthogranuloma with bilateral retinal detachment. (25787311)
2015
3
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
4
Erosive and mitotically active juvenile xanthogranuloma on the neck of an infant. (25187300)
2014
5
Three different ophthalmic presentations of juvenile xanthogranuloma. (24914080)
2014
6
Case series of volar juvenile xanthogranuloma: clinical observation of a peripheral rim of hyperkeratosis. (25227151)
2014
7
Isolated intracranial juvenile xanthogranuloma. A report of two cases and review of the literature. (25281434)
2014
8
Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood. (24582118)
2014
9
Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)
2013
10
Infantile juvenile xanthogranuloma of the chest wall mimicking mesenchymal hamartoma: report of a case. (22864545)
2012
11
Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. (22977671)
2012
12
Juvenile xanthogranuloma presenting as bilateral non-infiltrative extraconal superior orbital tumour in a 27 year old nigerian woman: features, management and outcome. (23071425)
2012
13
Solitary juvenile xanthogranuloma in the lung of a young adult. (21753717)
2011
14
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
15
Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. (21626171)
2011
16
Neonatal systemic juvenile xanthogranuloma with an ominous presentation and successful treatment. (21695102)
2011
17
Rapid-growing juvenile xanthogranuloma: The reality of a second opinion teleconsultation. Letters to the editor. (20695867)
2010
18
Solitary juvenile xanthogranuloma in the upper cervical spine: case report and review of the literatures. (18228052)
2008
19
An 'eruptive' variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis. (18840155)
2008
20
What's your diagnosis? Juvenile xanthogranuloma of the iris. (18404952)
2008
21
Juvenile xanthogranuloma of the finger: an unusual localization. (17683396)
2007
22
Juvenile xanthogranuloma en plaque. (18036001)
2007
23
Congenital plaque on the chest. Diagnosis: solitary giant congenital juvenile xanthogranuloma. (17376208)
2007
24
Juvenile xanthogranuloma associated with contralateral lymphadenopathy. (16190992)
2005
25
Linear juvenile xanthogranuloma. (15283809)
2004
26
Histopathologic maturation of juvenile xanthogranuloma in a short period. (11358553)
2001
27
Isolated juvenile xanthogranuloma of the subglottis: case report. (11295817)
2001
28
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
29
Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature. (10658117)
1999
30
Severe systemic toxicity caused by brimonidine drops in an infant with presumed juvenile xanthogranuloma. (10707152)
1999
31
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
32
Diagnosis and management of iris juvenile xanthogranuloma. (9027680)
1997
33
Juvenile xanthogranuloma occurring in the oral cavity: case report and histopathological findings. (9416582)
1997
34
Juvenile xanthogranuloma: report of case. (8530991)
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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Search GEO for disease gene expression data for Juvenile Xanthogranuloma.

Pathways for genes affiliated with Juvenile Xanthogranuloma

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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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Compounds related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1s 1004510.1F13A1, S100B
2reticulin4510.1F13A1, S100B
3dopachrome4510.0TYR, PMEL
4b 7234510.0S100B, F13A1
5hemocyanin459.9PMEL, TYR
6gsts459.9S100B, KIT
7formaldehyde45 2610.7S100B, TYR, KIT
8paclitaxel45 51 1311.5KIT, S100B, TYR
9lactate459.5S100B, KIT, MLANA
10hematoxylin459.5KIT, F13A1, MLANA, S100B
11vegf459.4S100B, F13A1, TYR, KIT
12glutamine459.2F13A1, KIT, S100B
13retinoic acid45 2610.0S100B, TYR, KIT, FSCN1
14testosterone45 61 26 1311.9TYR, KIT, TRG, S100B
15paraffin458.7KIT, FSCN1, S100B, TYR, MLANA, F13A1

GO Terms for genes affiliated with Juvenile Xanthogranuloma

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Cellular components related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424709.4PMEL, TYR, MLANA

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

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:00082839.4S100B, FSCN1, TYR

Products for genes affiliated with Juvenile Xanthogranuloma

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Sources for Juvenile Xanthogranuloma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet