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, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Juvenile Xanthogranuloma:

Name: Juvenile Xanthogranuloma 11 54 50 13 68
Multiple Eruptive Juvenile Xanthogranuloma 11
Xanthogranuloma, Juvenile 39
 
Naevoxanthoendothelioma 11
Xanthoma Neviforme 11

Characteristics:

Orphanet epidemiological data:

54
juvenile xanthogranuloma:
Inheritance: Not applicable

Classifications:



External Ids:

Disease Ontology11 DOID:4424
MeSH39 D014972
NCIt45 C3451
Orphanet54 ORPHA158000
MESH via Orphanet40 D014972
UMLS via Orphanet69 C0043324
ICD10 via Orphanet31 D76.3

Summaries for Juvenile Xanthogranuloma

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Wikipedia:71 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 & Phenotypes for Juvenile Xanthogranuloma

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Human phenotypes related to Juvenile Xanthogranuloma:

 64 54 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity64 occasional (7.5%) HP:0000163
2 visual impairment64 occasional (7.5%) HP:0000505
3 abnormality of the anterior chamber64 occasional (7.5%) HP:0000593
4 cafe-au-lait spot64 occasional (7.5%) HP:0000957
5 leukemia64 occasional (7.5%) HP:0001909
6 abnormality of the respiratory system64 54 occasional (7.5%) Occasional (29-5%) HP:0002086
7 inflammatory abnormality of the eye64 occasional (7.5%) HP:0100533
8 blepharitis54 Occasional (29-5%)
9 glaucoma54 Occasional (29-5%)
10 proptosis54 Occasional (29-5%)
11 uveitis54 Occasional (29-5%)
12 visual loss54 Occasional (29-5%)
13 iritis54 Occasional (29-5%)
14 myeloproliferative disorder54 Occasional (29-5%)
15 multiple cafe-au-lait spots54 Occasional (29-5%)
16 abnormality of oral mucosa54 Occasional (29-5%)
17 hyphema54 Occasional (29-5%)
18 asymmetry of iris pigmentation54 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:

36
Skin, Bone, Eye, Tongue, Brain, Bone marrow, Myeloid

Publications for Juvenile Xanthogranuloma

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Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 395)
idTitleAuthorsYear
1
Dermoscopy of giant juvenile xanthogranuloma. (28087040)
2017
2
Juvenile Xanthogranuloma in Vulva of a 10-Year-Old Child. (28050386)
2016
3
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
4
Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. (27435377)
2016
5
Imaging Features of Juvenile Xanthogranuloma of the Pediatric Head and Neck. (26744443)
2016
6
Bilateral conjunctival Splendore-Hoeppli phenomenon associated with juvenile xanthogranuloma. (26874167)
2016
7
A Cutaneous Horn-Like Form of Juvenile Xanthogranuloma. (27904287)
2016
8
Coexistence of Classic and a Mononuclear Variant of Juvenile Xanthogranuloma in an Adult Patient. (27081282)
2016
9
New Ultrasound Biomicroscopy Iris Findings in Juvenile Xanthogranuloma. (27483333)
2016
10
Color Doppler Sonography of Cutaneous Juvenile Xanthogranuloma With Clinical and Histologic Correlations. (26635254)
2016
11
Juvenile Xanthogranuloma: Presenting as an Isolated Renal Involvement. (27367608)
2016
12
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. (25801534)
2015
13
Juvenile xanthogranuloma of supra-sellar region: a rare presentation. (26308252)
2015
14
Ocular juvenile xanthogranuloma. (25969381)
2015
15
Solitary (juvenile) xanthogranuloma: a comprehensive immunohistochemical study emphasizing recently developed markers of histiocytic lineage. (26220162)
2015
16
Superficial and deep infiltrating congenital juvenile xanthogranuloma involving multiple skeletal muscles and associated with ulceration and generalized postinvolution atrophy. (25996675)
2015
17
Multimodal imaging for detection of clinically inapparent diffuse iris juvenile xanthogranuloma. (25992541)
2015
18
Juvenile Xanthogranuloma Involving the Eye and Ocular Adnexa: Tumor Control, Visual Outcomes, and Globe Salvage in 30A Patients. (26189188)
2015
19
Juvenile xanthogranuloma-a rare cause of unilateral orbital swelling in an elderly patient. (25804289)
2015
20
Juvenile xanthogranuloma with bilateral retinal detachment. (25787311)
2015
21
Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. (26637774)
2015
22
Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia. (25516272)
2015
23
Central nervous system lymphoma in a 3-year-old male suffering from a severe juvenile xanthogranuloma - the usefulness of perfusion weighted imaging and diffusion weighted imaging in the diagnostics of pediatric brain tumors. (25624957)
2015
24
Solitary juvenile xanthogranuloma with tibial involvement: a case report. (25755703)
2015
25
Solitary Ulcerated Congenital Giant Juvenile Xanthogranuloma. (26288431)
2015
26
Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review. (25503249)
2015
27
Solitary juvenile xanthogranuloma of the cervical spine in a child: A case report and review of literature. (25767592)
2015
28
Letter to the editor of Acta Neurochirurgica: case of an isolated intracranial juvenile xanthogranuloma in a 34-year-old man. (26126765)
2015
29
Juvenile Xanthogranuloma. (26711132)
2015
30
Ulcerated Spitz nevus masquerading as a juvenile xanthogranuloma. (25441121)
2015
31
Dermoscopic "setting sun" pattern of juvenile xanthogranuloma. (25500052)
2015
32
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
33
Erosive and mitotically active juvenile xanthogranuloma on the neck of an infant. (25187300)
2014
34
Case series of volar juvenile xanthogranuloma: clinical observation of a peripheral rim of hyperkeratosis. (25227151)
2014
35
Isolated intracranial juvenile xanthogranuloma. A report of two cases and review of the literature. (25281434)
2014
36
Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy. (25490241)
2014
37
Juvenile xanthogranuloma: a rare benign histiocytic disorder. (25097495)
2014
38
Old-age-onset subconjunctival juvenile xanthogranuloma without limbal involvement. (24602225)
2014
39
Clofarabine salvage therapy in refractory multifocal histiocytic disorders, including Langerhans cell histiocytosis, juvenile xanthogranuloma and Rosai-Dorfman disease. (24106153)
2014
40
Massive macronodular juvenile xanthogranuloma of the eyelid in a newborn. (24698623)
2014
41
Successful treatment of juvenile xanthogranuloma using bevacizumab. (24767830)
2014
42
Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. (24258576)
2014
43
Alteration of dermoscopic features in a juvenile xanthogranuloma during follow-up of 43A months. (25266925)
2014
44
Recurrent juvenile xanthogranuloma manifesting as diffuse miliary brain lesions. (24827069)
2014
45
Optical coherence tomography characteristics of epi-iridic membrane in a child with recurrent hyphema and presumed juvenile xanthogranuloma. (24568997)
2014
46
Three different ophthalmic presentations of juvenile xanthogranuloma. (24914080)
2014
47
Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood. (24582118)
2014
48
Juvenile xanthogranuloma: a case report and review of the literature. (24666806)
2014
49
Giant congenital juvenile xanthogranuloma presenting as a yellowish atrophic plaque. (24806539)
2014
50
Juvenile xanthogranuloma: unusual intraoral finding. (25300889)
2014

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
1cytoskeletonGO:00058569.9DES, FSCN1, VIM
2intermediate filament cytoskeletonGO:00451119.5DES, VIM
3extracellular regionGO:00055768.2CD163, F13A1, LYZ, PMEL, S100B

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:00451099.9DES, VIM
2muscle filament slidingGO:00300499.5DES, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet