MCID: JVN003
MIFTS: 48

Juvenile Xanthogranuloma

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

Aliases & Classifications for Juvenile Xanthogranuloma

MalaCards integrated aliases for Juvenile Xanthogranuloma:

Name: Juvenile Xanthogranuloma 12 55 51 14 69
Tetrachloroplatinate, Potassium Salt, (195)pt-Labeled 41
Multiple Eruptive Juvenile Xanthogranuloma 12
Xanthogranuloma, Juvenile 41
Naevoxanthoendothelioma 12
Xanthoma Neviforme 12

Characteristics:

Orphanet epidemiological data:

55
juvenile xanthogranuloma
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:4424
MeSH 41 D014972
NCIt 46 C3451
Orphanet 55 ORPHA158000
MESH via Orphanet 42 D014972
UMLS via Orphanet 70 C0043324
ICD10 via Orphanet 33 D76.3
UMLS 69 C0043324

Summaries for Juvenile Xanthogranuloma

MalaCards based summary : Juvenile Xanthogranuloma, also known as tetrachloroplatinate, potassium salt, (195)pt-labeled, is related to langerhans cell histiocytosis and histiocytosis, and has symptoms including blepharitis, glaucoma and proptosis. An important gene associated with Juvenile Xanthogranuloma is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Cytoskeletal Signaling and Striated Muscle Contraction. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotype is homeostasis/metabolism.

Wikipedia : 72 Juvenile xanthogranuloma (JXG) is a form of histiocytosis, classified as \"non-Langerhans cell... more...

Related Diseases for Juvenile Xanthogranuloma

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 156)
# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 30.6 BRAF F13A1 S100B
2 histiocytosis 30.5 BRAF FSCN1 S100B
3 rosai-dorfman disease 30.3 FSCN1 S100B
4 non-langerhans-cell histiocytosis 29.5 BRAF DES F13A1
5 multicentric reticulohistiocytosis 10.4 F13A1 VIM
6 generalized eruptive histiocytosis 10.4 F13A1 S100B
7 granuloma annulare 10.4 F13A1 VIM
8 hydromyelia 10.4 S100B VIM
9 bednar tumor 10.4 S100B VIM
10 primary hepatic neuroendocrine carcinoma 10.4 S100B VIM
11 chordoid meningioma 10.3 S100B VIM
12 neurofibromatosis, type iv, of riccardi 10.3
13 eccrine porocarcinoma 10.3 S100B VIM
14 myxopapillary ependymoma 10.3 S100B VIM
15 monophasic synovial sarcoma 10.3 S100B VIM
16 anaplastic ependymoma 10.3 S100B VIM
17 angiocentric glioma 10.3 S100B VIM
18 papillary tumor of the pineal region 10.3 BRAF VIM
19 rhabdoid meningioma 10.3 BRAF VIM
20 alk+ histiocytosis 10.3 F13A1 FSCN1
21 perineurioma 10.3 S100B VIM
22 spiradenoma 10.3 S100B VIM
23 adenofibroma 10.3 BRAF VIM
24 leukemia 10.3
25 myopericytoma 10.3 BRAF S100B
26 odontogenic myxoma 10.3 S100B VIM
27 metanephric adenoma 10.3 BRAF VIM
28 cerebral primitive neuroectodermal tumor 10.3 S100B VIM
29 hidradenocarcinoma 10.3 S100B VIM
30 polymorphous low-grade adenocarcinoma 10.3 S100B VIM
31 papillary adenocarcinoma 10.3 S100B VIM
32 amelanotic melanoma 10.3 BRAF S100B
33 malignant giant cell tumor of soft parts 10.3 LYZ S100B
34 osteochondroma 10.2 S100B VIM
35 optic nerve glioma 10.2 S100B VIM
36 fibroblastic rheumatism 10.2 DES F13A1
37 skin glomus tumor 10.2 DES VIM
38 infantile digital fibromatosis 10.2 DES VIM
39 lymphangiomatosis 10.2 DES VIM
40 primitive neuroectodermal tumor of the cervix uteri 10.2 DES VIM
41 cutaneous leiomyosarcoma 10.2 DES VIM
42 ependymoma 10.2 S100B VIM
43 myofibroma 10.2 DES F13A1
44 spindle cell lipoma 10.2 DES VIM
45 parachordoma 10.2 DES VIM
46 myoepithelioma 10.2 S100B VIM
47 epulis 10.2 DES VIM
48 epithelioid leiomyosarcoma 10.2 DES VIM
49 biphasic synovial sarcoma 10.2 DES VIM
50 benign metastasizing leiomyoma 10.2 DES VIM

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



Diseases related to Juvenile Xanthogranuloma

Symptoms & Phenotypes for Juvenile Xanthogranuloma

Human phenotypes related to Juvenile Xanthogranuloma:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000498
2 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
3 proptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000520
4 uveitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000554
5 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
6 iritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001101
7 abnormality of the respiratory system 55 31 occasional (7.5%) Occasional (29-5%) HP:0002086
8 myeloproliferative disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0005547
9 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
10 abnormality of oral mucosa 55 31 occasional (7.5%) Occasional (29-5%) HP:0011830
11 hyphema 55 31 occasional (7.5%) Occasional (29-5%) HP:0011886
12 asymmetry of iris pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0200064

UMLS symptoms related to Juvenile Xanthogranuloma:


pruritus, exanthema

MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 BRAF DES F13A1 LYZ PMEL S100B

Drugs & Therapeutics for Juvenile Xanthogranuloma

Drugs for Juvenile Xanthogranuloma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
4
Olaparib Approved Phase 2 763113-22-0 23725625
5 Anti-Bacterial Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Antifungal Agents Phase 2
8 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
9 Immunosuppressive Agents Phase 2
10 Antibiotics, Antitubercular Phase 2
11 tyrosine Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
2 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Juvenile Xanthogranuloma

Cochrane evidence based reviews: xanthogranuloma, juvenile

Genetic Tests for Juvenile Xanthogranuloma

Anatomical Context for Juvenile Xanthogranuloma

MalaCards organs/tissues related to Juvenile Xanthogranuloma:

38
Bone, Skin, Testes, Tongue, Brain, Bone Marrow, Liver

Publications for Juvenile Xanthogranuloma

Articles related to Juvenile Xanthogranuloma:

(show top 50) (show all 418)
# Title Authors Year
1
Juvenile xanthogranuloma with angiomatous appearance and a peculiar immunophenotype. ( 29165834 )
2018
2
Systemic juvenile xanthogranuloma: a case report and brief review. ( 29427327 )
2018
3
Is the setting sun dermoscopic pattern specific to juvenile xanthogranuloma? ( 29332728 )
2018
4
Reply to: "Is the setting sun dermoscopic pattern specific to juvenile xanthogranuloma?" ( 29332729 )
2018
5
A Japanese infant with systemic juvenile xanthogranuloma mimicking severe microangiopathy. ( 28500427 )
2017
6
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study. ( 28189268 )
2017
7
Neonatal glaucoma associated with juvenile xanthogranuloma: Case report. ( 28522113 )
2017
8
Systemic juvenile xanthogranuloma: a case of spontaneous regression of intramedullary spinal cord, cerebral, and cutaneous lesions. ( 28960169 )
2017
9
A Rare Case of Solitary Giant Congenital Juvenile Xanthogranuloma: A Case Report. ( 28300446 )
2017
10
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
11
Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. ( 28512266 )
2017
12
Ultrasound Appearance of Juvenile Xanthogranuloma. ( 28372783 )
2017
13
A Case with Juvenile Xanthogranuloma and Progressive Nodular Histiocytosis Overlap. ( 28297144 )
2017
14
Dermoscopy of giant juvenile xanthogranuloma. ( 28087040 )
2017
15
Iris juvenile xanthogranuloma in an infant - spontaneous hyphema and secondary glaucoma. ( 29450403 )
2017
16
A rare case of intramedullary solitary juvenile xanthogranuloma of the lumbar spine in the adult: a case report. ( 29057365 )
2017
17
Systemic Juvenile Xanthogranuloma Involving the Bone Marrow, Multiple Bones, and the Skin That Developed During Treatment of Acute Lymphoblastic Leukemia in Remission State. ( 28836893 )
2017
18
Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity. ( 28752840 )
2017
19
BRAF V600E Mutation in Pediatric Intracranial and Cranial Juvenile Xanthogranuloma. ( 28504206 )
2017
20
Disseminated juvenile xanthogranuloma occurring after treatment of Langerhans cell histiocytosis: a case report. ( 29209883 )
2017
21
Oral Juvenile Xanthogranuloma: Report of Two Cases. ( 28583250 )
2017
22
A Case of Segmental (Zosteriform) Juvenile Xanthogranuloma. ( 29200778 )
2017
23
Severe systemic juvenile xanthogranuloma is an indication for systemic therapy. ( 28244093 )
2017
24
Hemosiderotic Juvenile Xanthogranuloma. ( 28398921 )
2017
25
Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. ( 27435377 )
2016
26
Color Doppler Sonography of Cutaneous Juvenile Xanthogranuloma With Clinical and Histologic Correlations. ( 26635254 )
2016
27
Juvenile Xanthogranuloma in Vulva of a 10-Year-Old Child. ( 28050386 )
2016
28
Molluscum Mimicker: Juvenile Xanthogranulomas with Associated Juvenile Myelomonocytic Leukemia. ( 27514241 )
2016
29
New Ultrasound Biomicroscopy Iris Findings in Juvenile Xanthogranuloma. ( 27483333 )
2016
30
A Cutaneous Horn-Like Form of Juvenile Xanthogranuloma. ( 27904287 )
2016
31
Juvenile Xanthogranuloma: Presenting as an Isolated Renal Involvement. ( 27367608 )
2016
32
Coexistence of Classic and a Mononuclear Variant of Juvenile Xanthogranuloma in an Adult Patient. ( 27081282 )
2016
33
Bilateral conjunctival Splendore-Hoeppli phenomenon associated with juvenile xanthogranuloma. ( 26874167 )
2016
34
Imaging Features of Juvenile Xanthogranuloma of the Pediatric Head and Neck. ( 26744443 )
2016
35
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
36
Solitary Ulcerated Congenital Giant Juvenile Xanthogranuloma. ( 26288431 )
2015
37
Ulcerated Spitz nevus masquerading as a juvenile xanthogranuloma. ( 25441121 )
2015
38
Juvenile Xanthogranuloma Involving the Eye and Ocular Adnexa: Tumor Control, Visual Outcomes, and Globe Salvage in 30A Patients. ( 26189188 )
2015
39
Letter to the editor of Acta Neurochirurgica: case of an isolated intracranial juvenile xanthogranuloma in a 34-year-old man. ( 26126765 )
2015
40
Solitary juvenile xanthogranuloma of the cervical spine in a child: A case report and review of literature. ( 25767592 )
2015
41
Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia. ( 25516272 )
2015
42
Juvenile Xanthogranuloma. ( 26711132 )
2015
43
Juvenile xanthogranuloma with bilateral retinal detachment. ( 25787311 )
2015
44
Solitary juvenile xanthogranuloma with tibial involvement: a case report. ( 25755703 )
2015
45
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. ( 25801534 )
2015
46
Solitary (juvenile) xanthogranuloma: a comprehensive immunohistochemical study emphasizing recently developed markers of histiocytic lineage. ( 26220162 )
2015
47
Superficial and deep infiltrating congenital juvenile xanthogranuloma involving multiple skeletal muscles and associated with ulceration and generalized postinvolution atrophy. ( 25996675 )
2015
48
Juvenile xanthogranuloma of supra-sellar region: a rare presentation. ( 26308252 )
2015
49
Multimodal imaging for detection of clinically inapparent diffuse iris juvenile xanthogranuloma. ( 25992541 )
2015
50
Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review. ( 25503249 )
2015

Variations for Juvenile Xanthogranuloma

Expression for Juvenile Xanthogranuloma

Search GEO for disease gene expression data for Juvenile Xanthogranuloma.

Pathways for Juvenile Xanthogranuloma

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

# Super pathways Score Top Affiliating Genes
1 11.82 DES FSCN1 VIM
2 11.11 DES VIM
3 10.86 F13A1 FSCN1 VIM
4
Show member pathways
10.61 DES VIM

GO Terms for Juvenile Xanthogranuloma

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

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.16 BRAF S100B
2 muscle filament sliding GO:0030049 8.96 DES VIM
3 intermediate filament organization GO:0045109 8.62 DES VIM

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 BRAF DES LYZ PMEL S100B VIM

Sources for Juvenile Xanthogranuloma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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