MCID: JVN003
MIFTS: 46

Juvenile Xanthogranuloma malady

Skin diseases, Rare diseases categories

Aliases & Classifications for Juvenile Xanthogranuloma

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Juvenile Xanthogranuloma, Aliases & Descriptions:

Name: Juvenile Xanthogranuloma 9 11 43 47 60
Multiple Eruptive Juvenile Xanthogranuloma 9
 
Naevoxanthoendothelioma 9
Xanthoma Neviforme 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


External Ids:

Disease Ontology9 DOID:4424
MeSH33 D014972
NCIt38 C3451
Orphanet47 158000
MESH via Orphanet34 D014972
ICD10 via Orphanet26 D76.3
UMLS via Orphanet61 C0043324

Summaries for Juvenile Xanthogranuloma

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Wikipedia:63 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 neurofibromatosis, 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.

Related Diseases for Juvenile Xanthogranuloma

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Diseases in the Adult Xanthogranuloma family:

juvenile xanthogranuloma

Diseases related to Juvenile Xanthogranuloma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1langerhans-cell histiocytosis31.6S100B, F13A1
2neurofibromatosis31.3KIT, S100B
3histiocytosis31.1STAB1, FSCN1, S100B
4rosai-dorfman disease31.0S100B, FSCN1
5osteopetrosis30.4MIR4315-1, MIR4315-2
6melanoma29.5KIT, MLANA, TYR, PMEL, F13A1, FSCN1
7leukemia10.6
8perineurioma10.5S100B
9cervicitis10.5
10liposarcoma10.4TYR
11neurofibromatosis, type 110.3
12urticaria pigmentosa10.3
13urticaria10.3
14granular cell tumor10.3MLANA, S100B
15cutaneous fibrous histiocytoma10.3S100B, F13A1
16hemangiopericytoma10.3S100B, F13A1
17giant cell tumor10.3S100B, F13A1
18malignant fibroxanthoma10.3F13A1, S100B
19amelanotic melanoma10.3S100B, TYR
20pick disease10.3
21niemann-pick disease10.3
22chorioretinitis10.3
23cutaneous mastocytosis10.3
24lymphoblastic leukemia10.3
25myeloid leukemia10.3
26uveitis10.3
27mastocytosis10.3
28benign cephalic histiocytosis10.3
29clear cell sarcoma10.2KIT, S100B
30malignant mixed mullerian tumor10.2S100B, KIT
31pigmentation disease10.2KIT, TYR
32smooth muscle tumor10.2S100B, KIT
33malignant peripheral nerve sheath tumor10.2S100B, KIT
34fibrous histiocytoma10.2F13A1, FSCN1, S100B
35dandy-walker syndrome10.2MIR4315-2, MIR4315-1
36vitiligo-associated multiple autoimmune disease susceptibility 110.2MLANA, TYR, PMEL
37testicular cancer10.2MLANA, TYR, PMEL
38salivary gland adenoid cystic carcinoma10.2S100B, KIT
39papilloma10.2FSCN1
40influenza10.2PMEL, TYR, MLANA
41factor vii deficiency10.1TYR, KIT
42sarcoma, synovial10.1KIT, S100B
43dermatofibrosarcoma protuberans10.1KIT, F13A1, S100B
44tuberous sclerosis10.1F13A1, S100B
45leiomyosarcoma10.1MLANA, S100B, KIT
46gastrointestinal stromal tumor10.1S100B, KIT
47neurofibroma10.1KIT, S100B, F13A1
48wiskott-aldrich syndrome10.1
49acute leukemia10.1
50cataract10.1

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:

 47 (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:

31
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:

35
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Juvenile Xanthogranuloma

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Compounds related to Juvenile Xanthogranuloma according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1s 1004310.1S100B, F13A1
2reticulin4310.1F13A1, S100B
3dopachrome4310.0TYR, PMEL
4b 7234310.0S100B, F13A1
5hemocyanin439.9PMEL, TYR
6gsts439.9KIT, S100B
7formaldehyde43 2410.7KIT, S100B, TYR
8paclitaxel43 49 1211.5TYR, S100B, KIT
9lactate439.5KIT, S100B, MLANA
10hematoxylin439.5KIT, S100B, F13A1, MLANA
11vegf439.4TYR, F13A1, S100B, KIT
12glutamine439.2F13A1, S100B, KIT
13retinoic acid43 2410.0KIT, S100B, FSCN1, TYR
14testosterone43 59 24 1211.9TYR, S100B, KIT, TRG
15paraffin438.7KIT, MLANA, TYR, F13A1, FSCN1, S100B

GO Terms for genes affiliated with Juvenile Xanthogranuloma

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Cellular components related to Juvenile Xanthogranuloma according to GeneCards Suite gene sharing:

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

Biological processes related to Juvenile Xanthogranuloma according to GeneCards Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet