MCID: JVN003
MIFTS: 46

Juvenile Xanthogranuloma malady

Skin category

Summaries for Juvenile Xanthogranuloma

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 neurofibromatosis and rosai-dorfman disease, 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 bone marrow, brain and retina, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Aliases & Classifications for Juvenile Xanthogranuloma

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Aliases & Descriptions:

juvenile xanthogranuloma 8 10 45 49 61
multiple eruptive juvenile xanthogranuloma 8
naevoxanthoendothelioma 8
xanthoma neviforme 8


External Ids:

Disease Ontology8 DOID:4424
MeSH35 D014972
NCIt40 C3451
MESH via Orphanet36 D014972
ICD10 via Orphanet26 D76.3
SNOMED-CT via Orphanet58 400031009, 400204000
UMLS via Orphanet62 C0043324

Related Diseases for Juvenile Xanthogranuloma

Sources:
17GeneCards, 18GeneDecks
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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 78)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.9KIT, S100B
2rosai-dorfman disease30.5S100B, FSCN1
3adult xanthogranuloma10.7
4urticaria pigmentosa10.3
5acute leukemia10.3
6urticaria10.3
7niemann-pick disease10.2
8juvenile myelomonocytic leukemia10.2
9uveitis10.2
10niemann–pick disease10.2
11benign cephalic histiocytosis10.2
12hemophagocytic lymphohistiocytosis10.1
13obstructive jaundice10.1
14neurilemmomatosis10.1
15osteopetrosis10.1
16wiskott-aldrich syndrome10.1
17giant hemangioma10.1
18pancytopenia10.1
19juvenile glaucoma10.1
20chronic myeloid leukemia10.1
21adult lymphoma10.1
22amblyopia10.1
23aquagenic pruritus10.1
24follicular lymphoma10.1
25mastocytosis10.1
26cytomegalovirus infection10.1
27xanthoma disseminatum10.1
28perivascular epithelioid cell tumor10.0MLANA
29lymphangioleiomyomatosis10.0MLANA
30perineurioma10.0S100B
31malignant glioma10.0PMEL
32oculocutaneous albinism10.0TYR
33albinism10.0TYR
34angiosarcoma10.0FSCN1
35liposarcoma10.0TYR
36papilloma10.0FSCN1
37waardenburg's syndrome10.0TYR
38langerhans-cell histiocytosis10.0S100B, F13A1
39granular cell tumor10.0S100B, MLANA
40skin melanoma10.0TYR
41cutaneous fibrous histiocytoma10.0F13A1, S100B
42fibrosarcoma10.0MLANA, TYR
43tuberous sclerosis10.0F13A1, S100B
44mycosis fungoides10.0TRG, F13A1
45giant cell tumor10.0F13A1, S100B
46amelanotic melanoma10.0S100B, TYR
47malignant fibroxanthoma10.0F13A1, S100B
48ocular albinism10.0TYR
49letterer-siwe disease10.0S100B, F13A1, FSCN1
50fibrous histiocytoma10.0FSCN1, S100B, F13A1

Graphical network of the top 20 diseases related to Juvenile Xanthogranuloma:



Diseases related to juvenile xanthogranuloma

Clinical Features for Juvenile Xanthogranuloma

Sources:
49Orphanet
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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

Drugs & Therapeutics for Juvenile Xanthogranuloma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Search CenterWatch for Juvenile Xanthogranuloma

Genetic Tests for Juvenile Xanthogranuloma

Anatomical Context for Juvenile Xanthogranuloma

Sources:
33MalaCards
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MalaCards organs/tissues related to Juvenile Xanthogranuloma:

33
Bone marrow, Brain, Retina, Heart, Kidney, Liver, Lung, Skin, Testis, Myeloid, T cells, Tongue

Animal Models for Juvenile Xanthogranuloma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

37
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

Sources:
51PubMed
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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 351)
idTitleAuthorsYear
1
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
2
Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. (24258576)
2014
3
Sterile brain abscess due to juvenile xanthogranuloma: DWI characteristics. (22788960)
2013
4
Juvenile xanthogranuloma of the tympanic membrane: a case report. (22996708)
2012
5
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
6
Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. (21626171)
2011
7
Juvenile xanthogranuloma on the sole: dermoscopic findings as a diagnostic clue. (21175761)
2011
8
Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review. (21054159)
2011
9
An aggressive systemic juvenile xanthogranuloma clonally related to a preceding T-cell acute lymphoblastic leukemia. (20848640)
2011
10
Mitotically active deep juvenile xanthogranuloma. (20123455)
2010
11
Juvenile xanthogranuloma with bilateral ocular involvement: complete response after treatment with vinblastine: case report. (19882564)
2009
12
Infiltrative subcutaneous juvenile xanthogranuloma of the eyelid in a neonate. (19617803)
2009
13
Treatment of juvenile xanthogranuloma. (18338395)
2008
14
Disseminated clustered juvenile xanthogranuloma: an unusual morphological variant of a common condition. (18477008)
2008
15
Juvenile xanthogranuloma en plaque. (18036001)
2007
16
Managing isolated subglottic juvenile xanthogranuloma without tracheostomy: case report and review of literature. (17123317)
2007
17
Reawakening to the existence of juvenile xanthogranuloma. (15613865)
2005
18
Juvenile xanthogranuloma. (15977876)
2005
19
Chorioretinal involvement and vitreous hemorrhage in a patient with juvenile xanthogranuloma. (16121556)
2005
20
Systemic form of juvenile xanthogranuloma: report of a case with liver and bone marrow involvement. (15630537)
2004
21
Tracheal juvenile xanthogranuloma in a child. (15488984)
2004
22
Langerhans cell histiocytosis and juvenile xanthogranuloma. Two case reports. (15237270)
2004
23
Ulcerated juvenile xanthogranuloma of the scalp. (12581088)
2003
24
Juvenile xanthogranuloma as an isolated corneoscleral limbal mass: a case report. (12882510)
2003
25
Ulcerated giant juvenile xanthogranuloma accompanied by hyperlipidaemia. (12353716)
2002
26
A case of juvenile xanthogranuloma arising on a nevus sebaceus. (11481529)
2001
27
Association of juvenile xanthogranuloma with cafAc-au-lait macules. (11454088)
2001
28
Juvenile xanthogranuloma of the nasal cavity. (10962682)
2000
29
Juvenile xanthogranuloma presenting as obstructive jaundice. (10442591)
1999
30
Ultrasound biomicroscopy in juvenile xanthogranuloma of the iris. (10365052)
1999
31
Giant juvenile xanthogranuloma present since birth. (9746103)
1998
32
Juvenile xanthogranuloma, neurofibromatosis 1, and juvenile chronic myeloid leukemia. (8915325)
1996
33
Juvenile xanthogranuloma with cutaneous and cerebral manifestations in a young infant. (7572085)
1995
34
Atypical juvenile xanthogranuloma. (8736607)
1995
35
Juvenile xanthogranuloma with extra-cutaneous lesions--a case report. (7748839)
1994
36
Chorioretinal, iris, and ciliary body infiltration by juvenile xanthogranuloma masquerading as uveitis. (7974193)
1994
37
Aquagenic pruritus associated with juvenile xanthogranuloma. (8348719)
1993
38
Unusual aspects of juvenile xanthogranuloma. (8408830)
1993
39
Juvenile xanthogranuloma of the corneoscleral limbus. (8336899)
1993
40
CD1 (OKT6)-positive juvenile xanthogranuloma. OKT6 is not specific for Langerhans cell histiocytosis (histiocytosis X). (1613148)
1992
41
Congenital macronodular juvenile xanthogranuloma of the eyelid. (1923358)
1991
42
Juvenile xanthogranuloma and neurofibromatosis. (1792210)
1991
43
Niemann-Pick disease and juvenile xanthogranuloma. Are they related? (3120613)
1987
44
Juvenile xanthogranuloma. (6192889)
1983
45
Intraoral and cutaneous juvenile xanthogranuloma. (6774651)
1980
46
Juvenile xanthogranuloma and neurofibromatosis. (4631111)
1973
47
Intraocular juvenile xanthogranuloma. Report of a case. (5005927)
1971
48
Juvenile xanthogranuloma of the orbit. (4960558)
1967
49
Nevoxanthoendothelioma (juvenile xanthogranuloma) of the iris. Diagnosis by biopsy and treatment with x-ray. (13694003)
1961
50
Nevoxanthoendothelioma (juvenile xanthogranuloma) of the iris. Diagnosis by biopsy and treatment with x-rays. (13694004)
1961

Genetic Variations for Juvenile Xanthogranuloma

Expression for genes affiliated with Juvenile Xanthogranuloma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
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

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 60Tocris Bioscience
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Compounds related to Juvenile Xanthogranuloma according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1s 1004510.1S100B, F13A1
2reticulin4510.1F13A1, S100B
3dopachrome4510.0TYR, PMEL
4b 723459.9S100B, F13A1
5hemocyanin459.9PMEL, TYR
6gsts459.7KIT, S100B
7formaldehyde45 2410.7TYR, S100B, KIT
8paclitaxel45 50 1111.5S100B, KIT, TYR
9hematoxylin459.4F13A1, MLANA, S100B, KIT
10testosterone45 60 11 2412.1KIT, S100B, TRG, TYR
11vegf458.9KIT, S100B, F13A1, TYR
12paraffin458.7FSCN1, F13A1, TYR, S100B, KIT, MLANA

GO Terms for genes affiliated with Juvenile Xanthogranuloma

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Xanthogranuloma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet