MCID: JVN003
MIFTS: 44

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 56 52 14 69
Multiple Eruptive Juvenile Xanthogranuloma 12
Xanthogranuloma, Juvenile 42
Naevoxanthoendothelioma 12
Xanthoma Neviforme 12

Characteristics:

Orphanet epidemiological data:

56
juvenile xanthogranuloma
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:4424
MeSH 42 D014972
NCIt 47 C3451
Orphanet 56 ORPHA158000
MESH via Orphanet 43 D014972
UMLS via Orphanet 70 C0043324
ICD10 via Orphanet 34 D76.3
UMLS 69 C0043324

Summaries for Juvenile Xanthogranuloma

MalaCards based summary : Juvenile Xanthogranuloma, also known as multiple eruptive juvenile xanthogranuloma, is related to hemangioma and cortical blindness, 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 Everolimus and Miconazole 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 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 154)
id Related Disease Score Top Affiliating Genes
1 hemangioma 30.4 F13A1 VIM
2 cortical blindness 10.6 F13A1 VIM
3 classic mast cell leukemia 10.6 F13A1 S100B
4 immune-mediated encephalomyelitis 10.6 S100B VIM
5 benallegue lacete syndrome 10.6 S100B VIM
6 neurogenic thoracic outlet syndrome 10.6 S100B VIM
7 allergic encephalomyelitis 10.6 F13A1 FSCN1
8 reticular pattern testicular yolk sac tumor 10.5 S100B VIM
9 pancreatic intraductal papillary-colloid carcinoma 10.5 S100B VIM
10 lice infestation 10.5 S100B VIM
11 ganglioglioma 10.5 S100B VIM
12 anaplastic oligodendroglioma 10.5 S100B VIM
13 papillary glioneuronal tumor 10.5 S100B VIM
14 malignant breast melanoma 10.5 S100B VIM
15 pulmonary venoocclusive disease 10.5 S100B VIM
16 prostate disease 10.5 S100B VIM
17 infantile scoliosis 10.5 DES VIM
18 lymphocytic infiltrate of jessner 10.5 DES VIM
19 intellectual disability-polydactyly-uncombable hair syndrome 10.5 DES VIM
20 esophagus leiomyosarcoma 10.5 DES VIM
21 neuromuscular junction disease 10.4 DES F13A1
22 oligomeganephronic renal hypoplasia 10.4 S100B VIM
23 skin lipoma 10.4 DES VIM
24 pineal region yolk sac tumor 10.4 DES VIM
25 laryngeal neuroendocrine tumor 10.4 DES VIM
26 mannose-binding lectin protein deficiency 10.4 DES VIM
27 uniparental disomy of chromosome 11 10.4 DES VIM
28 myxoid leiomyosarcoma 10.4 DES VIM
29 vulvar keratoacanthoma-like carcinoma 10.4 S100B VIM
30 cataract congenital autosomal dominant 10.4 DES F13A1
31 berk-tabatznik syndrome 10.4 DES VIM
32 hip subluxation 10.4 S100B VIM
33 spleen cancer 10.4 DES S100B
34 localized pulmonary fibrosis 10.4 LYZ S100B
35 cellular ependymoma 10.4 DES VIM
36 polyosteolysis/hyperostosis syndrome 10.4 S100B VIM
37 sparse hair-short stature-skin anomalies syndrome 10.4 DES S100B
38 mucinous ovarian cystadenoma 10.4 DES S100B
39 follicular infundibulum tumor 10.4 DES VIM
40 acute allergic serous otitis media 10.4 S100B VIM
41 space motion sickness 10.4 DES VIM
42 secondary pulmonary hemosiderosis 10.4 DES F13A1
43 childhood pleomorphic rhabdomyosarcoma 10.4 DES VIM
44 sebaceous adenoma 10.4 DES VIM
45 short-rib thoracic dysplasia 12 10.4 DES VIM
46 rectal neoplasm 10.4 DES VIM
47 extraskeletal mesenchymal chondrosarcoma 10.4 DES VIM
48 osteopetrosis and infantile neuroaxonal dystrophy 10.4 S100B VIM
49 spondyloepimetaphyseal dysplasia, isidor type 10.4 DES VIM
50 cervical adenomyoma 10.4 S100B 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:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000498
2 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
3 proptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000520
4 uveitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000554
5 visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000572
6 iritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001101
7 abnormality of the respiratory system 56 32 occasional (7.5%) Occasional (29-5%) HP:0002086
8 myeloproliferative disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0005547
9 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
10 abnormality of oral mucosa 56 32 occasional (7.5%) Occasional (29-5%) HP:0011830
11 hyphema 56 32 occasional (7.5%) Occasional (29-5%) HP:0011886
12 asymmetry of iris pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0200064

UMLS symptoms related to Juvenile Xanthogranuloma:


exanthema, pruritus

MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 CD163 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Olaparib Approved Phase 2 763113-22-0 23725625
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
5 Anti-Bacterial Agents Phase 2
6 Antibiotics, Antitubercular Phase 2
7 Antifungal Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Immunosuppressive Agents Phase 2
10 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
11 tyrosine Nutraceutical Phase 2

Interventional clinical trials:


id 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:

39
Bone, Skin, Testes, Bone Marrow, Tongue, Brain, Eye

Publications for Juvenile Xanthogranuloma

Articles related to Juvenile Xanthogranuloma:

(show top 50) (show all 410)
id Title Authors Year
1
Oral Juvenile Xanthogranuloma: Report of Two Cases. ( 28583250 )
2017
2
A Rare Case of Solitary Giant Congenital Juvenile Xanthogranuloma: A Case Report. ( 28300446 )
2017
3
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
4
Dermoscopy of giant juvenile xanthogranuloma. ( 28087040 )
2017
5
Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. ( 28512266 )
2017
6
Ultrasound Appearance of Juvenile Xanthogranuloma. ( 28372783 )
2017
7
Hemosiderotic Juvenile Xanthogranuloma. ( 28398921 )
2017
8
Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity. ( 28752840 )
2017
9
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study. ( 28189268 )
2017
10
Neonatal glaucoma associated with juvenile xanthogranuloma: Case report. ( 28522113 )
2017
11
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
12
A Case with Juvenile Xanthogranuloma and Progressive Nodular Histiocytosis Overlap. ( 28297144 )
2017
13
A Japanese infant with systemic juvenile xanthogranuloma mimicking severe microangiopathy. ( 28500427 )
2017
14
BRAF V600E Mutation in Pediatric Intracranial and Cranial Juvenile Xanthogranuloma. ( 28504206 )
2017
15
Severe systemic juvenile xanthogranuloma is an indication for systemic therapy. ( 28244093 )
2017
16
Bilateral conjunctival Splendore-Hoeppli phenomenon associated with juvenile xanthogranuloma. ( 26874167 )
2016
17
Coexistence of Classic and a Mononuclear Variant of Juvenile Xanthogranuloma in an Adult Patient. ( 27081282 )
2016
18
Color Doppler Sonography of Cutaneous Juvenile Xanthogranuloma With Clinical and Histologic Correlations. ( 26635254 )
2016
19
Imaging Features of Juvenile Xanthogranuloma of the Pediatric Head and Neck. ( 26744443 )
2016
20
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
21
Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. ( 27435377 )
2016
22
New Ultrasound Biomicroscopy Iris Findings in Juvenile Xanthogranuloma. ( 27483333 )
2016
23
Juvenile Xanthogranuloma in Vulva of a 10-Year-Old Child. ( 28050386 )
2016
24
Molluscum Mimicker: Juvenile Xanthogranulomas with Associated Juvenile Myelomonocytic Leukemia. ( 27514241 )
2016
25
Juvenile Xanthogranuloma: Presenting as an Isolated Renal Involvement. ( 27367608 )
2016
26
A Cutaneous Horn-Like Form of Juvenile Xanthogranuloma. ( 27904287 )
2016
27
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
28
Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review. ( 25503249 )
2015
29
Juvenile xanthogranuloma-a rare cause of unilateral orbital swelling in an elderly patient. ( 25804289 )
2015
30
Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia. ( 25516272 )
2015
31
Juvenile xanthogranuloma of supra-sellar region: a rare presentation. ( 26308252 )
2015
32
Solitary juvenile xanthogranuloma with tibial involvement: a case report. ( 25755703 )
2015
33
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. ( 25801534 )
2015
34
Dermoscopic "setting sun" pattern of juvenile xanthogranuloma. ( 25500052 )
2015
35
Multimodal imaging for detection of clinically inapparent diffuse iris juvenile xanthogranuloma. ( 25992541 )
2015
36
Superficial and deep infiltrating congenital juvenile xanthogranuloma involving multiple skeletal muscles and associated with ulceration and generalized postinvolution atrophy. ( 25996675 )
2015
37
Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. ( 26637774 )
2015
38
Juvenile xanthogranuloma with bilateral retinal detachment. ( 25787311 )
2015
39
Solitary Ulcerated Congenital Giant Juvenile Xanthogranuloma. ( 26288431 )
2015
40
Juvenile Xanthogranuloma. ( 26711132 )
2015
41
Juvenile Xanthogranuloma Involving the Eye and Ocular Adnexa: Tumor Control, Visual Outcomes, and Globe Salvage in 30A Patients. ( 26189188 )
2015
42
Letter to the editor of Acta Neurochirurgica: case of an isolated intracranial juvenile xanthogranuloma in a 34-year-old man. ( 26126765 )
2015
43
Ulcerated Spitz nevus masquerading as a juvenile xanthogranuloma. ( 25441121 )
2015
44
Solitary (juvenile) xanthogranuloma: a comprehensive immunohistochemical study emphasizing recently developed markers of histiocytic lineage. ( 26220162 )
2015
45
Ocular juvenile xanthogranuloma. ( 25969381 )
2015
46
Solitary juvenile xanthogranuloma of the cervical spine in a child: A case report and review of literature. ( 25767592 )
2015
47
Juvenile xanthogranuloma: unusual intraoral finding. ( 25300889 )
2014
48
Alteration of dermoscopic features in a juvenile xanthogranuloma during follow-up of 43A months. ( 25266925 )
2014
49
Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood. ( 24582118 )
2014
50
Successful treatment of juvenile xanthogranuloma using bevacizumab. ( 24767830 )
2014

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:

id Super pathways Score Top Affiliating Genes
1 11.81 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:

id Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 8.96 DES VIM
2 intermediate filament organization GO:0045109 8.62 DES VIM

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 DES LYZ S100B VIM

Sources for Juvenile Xanthogranuloma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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