MCID: JVN003
MIFTS: 53

Juvenile Xanthogranuloma malady

Skin diseases, Rare diseases, Immune diseases categories
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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 neurofibromatosis, and has symptoms including follicular/erythematous/edematous papules/milium, anterior chamber anomaly 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 normal.

Aliases & Classifications for Juvenile Xanthogranuloma

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Juvenile Xanthogranuloma, Aliases & Descriptions:

Name: Juvenile Xanthogranuloma 8 10 44 48 62
Multiple Eruptive Juvenile Xanthogranuloma 8 62
 
Naevoxanthoendothelioma 8
Xanthoma Neviforme 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases, Immune diseases
Orphanet: 48 
Rare skin diseases


External Ids:

Disease Ontology8 DOID:4424
NCIt39 C3451
MeSH34 D014972
MESH via Orphanet35 D014972
ICD10 via Orphanet26 D76.3
UMLS via Orphanet63 C0043324

Related Diseases for Juvenile Xanthogranuloma

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Diseases in the Juvenile Xanthogranuloma family:

Adult Xanthogranuloma

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1langerhans-cell histiocytosis31.6F13A1, S100B
2neurofibromatosis31.3S100B, KIT
3histiocytosis31.1S100B, STAB1, FSCN1
4rosai-dorfman disease31.0S100B, FSCN1
5osteopetrosis30.4MIR4315-1, MIR4315-2
6melanoma29.5MLANA, TYR, PMEL, F13A1, FSCN1, S100B
7leukemia10.6
8perineurioma10.5S100B
9cervicitis10.4
10liposarcoma10.4TYR
11urticaria pigmentosa10.4
12urticaria10.4
13granular cell tumor10.3S100B, MLANA
14cutaneous fibrous histiocytoma10.3F13A1, S100B
15hemangiopericytoma10.3S100B, F13A1
16giant cell tumor10.3F13A1, S100B
17malignant fibroxanthoma10.3S100B, F13A1
18amelanotic melanoma10.3TYR, S100B
19acute lymphoblastic leukemia10.3
20juvenile myelomonocytic leukemia10.3
21niemann-pick disease10.3
22chorioretinitis10.3
23lymphoblastic leukemia10.3
24myeloid leukemia10.3
25uveitis10.3
26benign cephalic histiocytosis10.3
27clear cell sarcoma10.2KIT, S100B
28malignant mixed mullerian tumor10.2KIT, S100B
29pigmentation disease10.2KIT, TYR
30smooth muscle tumor10.2KIT, S100B
31malignant peripheral nerve sheath tumor10.2S100B, KIT
32fibrous histiocytoma10.2F13A1, FSCN1, S100B
33dandy-walker syndrome10.2MIR4315-1, MIR4315-2
34vitiligo10.2MLANA, TYR, PMEL
35testicular cancer10.2MLANA, TYR, PMEL
36salivary gland adenoid cystic carcinoma10.2KIT, S100B
37papilloma10.2FSCN1
38influenza10.2MLANA, TYR, PMEL
39factor vii deficiency10.2KIT, TYR
40synovial sarcoma10.2KIT, S100B
41dermatofibrosarcoma protuberans10.1F13A1, S100B, KIT
42tuberous sclerosis10.1S100B, F13A1
43leiomyosarcoma10.1KIT, S100B, MLANA
44paraganglioma10.1S100B, KIT
45neurofibroma10.1F13A1, S100B, KIT
46gastrointestinal stromal tumor10.1S100B, KIT
47acute leukemia10.1
48cataract10.1
49chronic myeloid leukemia10.1
50diabetes mellitus10.1

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:

48 (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:

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

Animal Models for Juvenile Xanthogranuloma or affiliated genes

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MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

36
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 361)
idTitleAuthorsYear
1
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
2
Erosive and mitotically active juvenile xanthogranuloma on the neck of an infant. (25187300)
2014
3
Three different ophthalmic presentations of juvenile xanthogranuloma. (24914080)
2014
4
Case series of volar juvenile xanthogranuloma: clinical observation of a peripheral rim of hyperkeratosis. (25227151)
2014
5
Isolated intracranial juvenile xanthogranuloma. A report of two cases and review of the literature. (25281434)
2014
6
Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood. (24582118)
2014
7
Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)
2013
8
Infantile juvenile xanthogranuloma of the chest wall mimicking mesenchymal hamartoma: report of a case. (22864545)
2012
9
Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. (22977671)
2012
10
Juvenile xanthogranuloma presenting as bilateral non-infiltrative extraconal superior orbital tumour in a 27 year old nigerian woman: features, management and outcome. (23071425)
2012
11
Nonlipidized juvenile xanthogranuloma: an unusual variant with a potential diagnostic pitfall. (22204961)
2012
12
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
13
Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. (21626171)
2011
14
Neonatal systemic juvenile xanthogranuloma with an ominous presentation and successful treatment. (21695102)
2011
15
Rapid-growing juvenile xanthogranuloma: The reality of a second opinion teleconsultation. Letters to the editor. (20695867)
2010
16
Solitary juvenile xanthogranuloma in the upper cervical spine: case report and review of the literatures. (18228052)
2008
17
An 'eruptive' variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis. (18840155)
2008
18
What's your diagnosis? Juvenile xanthogranuloma of the iris. (18404952)
2008
19
Juvenile xanthogranuloma of the finger: an unusual localization. (17683396)
2007
20
Juvenile xanthogranuloma en plaque. (18036001)
2007
21
Congenital plaque on the chest. Diagnosis: solitary giant congenital juvenile xanthogranuloma. (17376208)
2007
22
Juvenile xanthogranuloma associated with contralateral lymphadenopathy. (16190992)
2005
23
Linear juvenile xanthogranuloma. (15283809)
2004
24
Successful treatment of congenital systemic juvenile xanthogranuloma with Langerhans cell histiocytosis-based chemotherapy. (15167350)
2004
25
Histopathologic maturation of juvenile xanthogranuloma in a short period. (11358553)
2001
26
Isolated juvenile xanthogranuloma of the subglottis: case report. (11295817)
2001
27
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
28
Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature. (10658117)
1999
29
Severe systemic toxicity caused by brimonidine drops in an infant with presumed juvenile xanthogranuloma. (10707152)
1999
30
Giant juvenile xanthogranuloma of the tongue. (10442777)
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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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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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 1004410.1S100B, F13A1
2reticulin4410.1F13A1, S100B
3dopachrome4410.0TYR, PMEL
4b 7234410.0S100B, F13A1
5hemocyanin449.9PMEL, TYR
6gsts449.9KIT, S100B
7formaldehyde44 2410.7KIT, S100B, TYR
8paclitaxel44 50 1111.5TYR, S100B, KIT
9lactate449.5KIT, S100B, MLANA
10hematoxylin449.5KIT, S100B, F13A1, MLANA
11vegf449.4TYR, F13A1, S100B, KIT
12glutamine449.2F13A1, S100B, KIT
13retinoic acid44 2410.0KIT, S100B, FSCN1, TYR
14testosterone44 61 24 1111.9TYR, S100B, KIT, TRG
15paraffin448.7KIT, 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/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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  • Proteins
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet