MCID: JVN003
MIFTS: 40

Juvenile Xanthogranuloma malady

Categories: Bone diseases, Skin diseases, Rare diseases, Immune diseases

Aliases & Classifications for Juvenile Xanthogranuloma

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Sources:
11Disease Ontology, 13DISEASES, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Juvenile Xanthogranuloma:

Name: Juvenile Xanthogranuloma 11 53 49 13 67
Multiple Eruptive Juvenile Xanthogranuloma 11
Xanthogranuloma, Juvenile 38
 
Naevoxanthoendothelioma 11
Xanthoma Neviforme 11

Characteristics:

Orphanet epidemiological data:

53
juvenile xanthogranuloma:
Inheritance: Not applicable

Classifications:



External Ids:

Disease Ontology11 DOID:4424
MeSH38 D014972
NCIt44 C3451
Orphanet53 ORPHA158000
MESH via Orphanet39 D014972
UMLS via Orphanet68 C0043324
ICD10 via Orphanet30 D76.3

Summaries for Juvenile Xanthogranuloma

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Wikipedia:70 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 hemangioma and transitional meningioma, 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 A Chain), and among its related pathways are Striated Muscle Contraction and Aurora B signaling. Affiliated tissues include skin, bone and eye.

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 132)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioma30.2F13A1, VIM
2transitional meningioma10.5F13A1, VIM
3myopia10.5F13A1, VIM
4eosinophilic granulomatosis with polyangiitis10.5F13A1, FSCN1
5harding ataxia10.4DES, VIM
6soft tissue peripheral neuroepithelioma10.4DES, F13A1
7lymphocytic vasculitis10.4DES, VIM
8skin lipoma10.4DES, VIM
9anterograde amnesia10.4DES, VIM
10monophasic synovial sarcoma10.4DES, VIM
11perivascular epithelioid cell tumor10.4F13A1, VIM
12mollaret meningitis10.4DES, VIM
13focal chorioretinitis10.3DES, VIM
14malignant glandular tumor of peripheral nerve sheath10.3DES, VIM
15parachordoma10.3DES, VIM
16angora hair nevus10.3DES, VIM
17short-rib thoracic dysplasia 1210.3DES, VIM
18gangliocytoma10.3DES, VIM
19t-cell childhood acute lymphocytic leukemia10.3DES, VIM
20progressive nodular histiocytosis10.3F13A1, S100B
21histiocytosis10.3
22rectal cancer, childhood10.3CD163, FSCN1
23fibrosing mediastinitis10.3DES, VIM
24hypotonia10.3S100B, VIM
25anaplastic oligoastrocytoma10.3S100B, VIM
26exstrophy-epispadias complex10.3S100B, VIM
27staphyloenterotoxemia10.2DES, VIM
28fraxf syndrome10.2S100B, VIM
29pediculus humanus capitis infestation10.2S100B, VIM
30malignant cystic nephroma10.2S100B, VIM
31lumbar plexus neoplasm10.2S100B, VIM
32subependymal giant cell astrocytoma10.2S100B, VIM
33eccrine papillary adenoma10.2S100B, VIM
34frontal sinus squamous cell carcinoma10.2DES, VIM
35gallbladder adenoma10.2S100B, VIM
36pineal parenchymal tumor of intermediate differenciation10.2S100B, VIM
37epithelioid cell melanoma10.2S100B, VIM
38bickerstaff brainstem encephalitis10.2DES, S100B
39leukemia10.2
40subacute leukemia10.2DES, S100B
41pauciarticular onset juvenile idiopathic arthritis10.2S100B, VIM
42mild phosphoribosylpyrophosphate synthetase superactivity10.1DES, VIM
43osteopetrosis and infantile neuroaxonal dystrophy10.1S100B, VIM
44l-cell glucagon-like peptide producing tumor10.1S100B, VIM
45central centrifugal cicatricial alopecia10.1S100B, VIM
46novak syndrome10.1S100B, VIM
47polyomavirus allograft nephropathy10.1S100B, VIM
48glioma susceptibility 110.1S100B, VIM
49acute serous otitis media10.1S100B, VIM
50advanced sleep-phase syndrome, familial, 210.1DES, VIM

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



Diseases related to juvenile xanthogranuloma

Symptoms for Juvenile Xanthogranuloma

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Human phenotypes related to Juvenile Xanthogranuloma:

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity63 occasional (7.5%) HP:0000163
2 visual impairment63 occasional (7.5%) HP:0000505
3 abnormality of the anterior chamber63 occasional (7.5%) HP:0000593
4 cafe-au-lait spot63 occasional (7.5%) HP:0000957
5 leukemia63 occasional (7.5%) HP:0001909
6 abnormality of the respiratory system63 53 occasional (7.5%) Occasional (29-5%) HP:0002086
7 inflammatory abnormality of the eye63 occasional (7.5%) HP:0100533
8 blepharitis53 Occasional (29-5%)
9 glaucoma53 Occasional (29-5%)
10 proptosis53 Occasional (29-5%)
11 uveitis53 Occasional (29-5%)
12 visual loss53 Occasional (29-5%)
13 iritis53 Occasional (29-5%)
14 myeloproliferative disorder53 Occasional (29-5%)
15 multiple cafe-au-lait spots53 Occasional (29-5%)
16 abnormality of oral mucosa53 Occasional (29-5%)
17 hyphema53 Occasional (29-5%)
18 asymmetry of iris pigmentation53 Occasional (29-5%)

UMLS symptoms related to Juvenile Xanthogranuloma:


exanthema, pruritus, skin manifestations, tumor-like lesion of skin

Drugs & Therapeutics for Juvenile Xanthogranuloma

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Interventional clinical trials:

idNameStatusNCT IDPhase
1International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Juvenile Xanthogranuloma


Cochrane evidence based reviews: xanthogranuloma, juvenile

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:

35
Skin, Bone, Eye, Tongue, Brain, Bone marrow, Myeloid

Animal Models for Juvenile Xanthogranuloma or affiliated genes

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Publications for Juvenile Xanthogranuloma

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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 395)
idTitleAuthorsYear
1
Juvenile Xanthogranuloma in Vulva of a 10-Year-Old Child. (28050386)
2016
2
The clinical diagnosis and management options for intracranial juvenile xanthogranuloma in children: based on four cases and another 39 patients in the literature. (27173098)
2016
3
Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. (27435377)
2016
4
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. (25801534)
2015
5
Juvenile xanthogranuloma of supra-sellar region: a rare presentation. (26308252)
2015
6
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
7
Erosive and mitotically active juvenile xanthogranuloma on the neck of an infant. (25187300)
2014
8
Case series of volar juvenile xanthogranuloma: clinical observation of a peripheral rim of hyperkeratosis. (25227151)
2014
9
Isolated intracranial juvenile xanthogranuloma. A report of two cases and review of the literature. (25281434)
2014
10
Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy. (25490241)
2014
11
Juvenile xanthogranuloma: a rare benign histiocytic disorder. (25097495)
2014
12
Juvenile Xanthogranuloma: Diverse Presentations of Noncutaneous Disease. (24065046)
2013
13
Isolated intraspinal juvenile xanthogranuloma in an infant presenting as acute paraplegia. (23254572)
2013
14
Infantile juvenile xanthogranuloma of the chest wall mimicking mesenchymal hamartoma: report of a case. (22864545)
2012
15
Nonlipidized juvenile xanthogranuloma: an unusual variant with a potential diagnostic pitfall. (22204961)
2012
16
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
17
Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. (21626171)
2011
18
Rapid-growing juvenile xanthogranuloma: The reality of a second opinion teleconsultation. Letters to the editor. (20695867)
2010
19
Solitary juvenile xanthogranuloma of the temporal muscle and bone penetrating the dura mater in a 2-month-old boy. (19951050)
2009
20
An 'eruptive' variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis. (18840155)
2008
21
Juvenile xanthogranuloma en plaque. (18036001)
2007
22
An unusual presentation of juvenile xanthogranuloma. (17958822)
2007
23
Severe astigmatic amblyopia secondary to subcutaneous juvenile xanthogranuloma of the eyelid. (16814185)
2006
24
Juvenile xanthogranuloma associated with contralateral lymphadenopathy. (16190992)
2005
25
Linear juvenile xanthogranuloma. (15283809)
2004
26
Successful treatment of congenital systemic juvenile xanthogranuloma with Langerhans cell histiocytosis-based chemotherapy. (15167350)
2004
27
Histopathologic maturation of juvenile xanthogranuloma in a short period. (11358553)
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 of the tongue. (11077357)
2000
30
Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature. (10658117)
1999
31
Giant juvenile xanthogranuloma of the tongue. (10442777)
1999
32
Juvenile xanthogranuloma presenting as obstructive jaundice. (10442591)
1999
33
Juvenile xanthogranuloma of the eyelid in an adult. (9823370)
1998
34
Giant juvenile xanthogranuloma present since birth. (9746103)
1998
35
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
36
Juvenile xanthogranuloma occurring in the oral cavity: case report and histopathological findings. (9416582)
1997
37
Juvenile xanthogranuloma. (9091465)
1997
38
Juvenile xanthogranuloma on the palm. (9122074)
1996
39
Juvenile xanthogranuloma. (7616589)
1995
40
Juvenile xanthogranuloma with extra-cutaneous lesions--a case report. (7748839)
1994
41
Unusual aspects of juvenile xanthogranuloma. (8408830)
1993
42
Histiocytic tumor of Meckel's cave. An intracranial equivalent of juvenile xanthogranuloma of the skin. (1728198)
1992
43
Congenital macronodular juvenile xanthogranuloma of the eyelid. (1923358)
1991
44
Juvenile xanthogranuloma and neurofibromatosis. (1792210)
1991
45
Juvenile xanthogranuloma with pulmonary lesions. (3124069)
1988
46
Pathologic quiz case 1. Adolescent (juvenile) xanthogranuloma. (3118907)
1987
47
Juvenile xanthogranulomas and xanthoma disseminatum--variations on a single theme. (3088071)
1986
48
Juvenile xanthogranuloma with recurrent subdural effusions. (6789861)
1981
49
Intraoral and cutaneous juvenile xanthogranuloma. (6774651)
1980
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 pathwaysScoreTop Affiliating Genes
19.5DES, VIM
2
Show member pathways
9.5DES, VIM
39.4S100B, VIM
49.1DES, FSCN1, VIM

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
1intermediate filament cytoskeletonGO:00451119.9DES, VIM
2cytoskeletonGO:00058568.8DES, FSCN1, VIM
3extracellular regionGO:00055767.8CD163, F13A1, LYZ, PMEL, S100B

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:00451099.5DES, VIM
2muscle filament slidingGO:00300499.2DES, VIM

Molecular functions related to Juvenile Xanthogranuloma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.1DES, LYZ, S100B, VIM

Sources for Juvenile Xanthogranuloma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet