MCID: JVN003
MIFTS: 43

Juvenile Xanthogranuloma

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

Aliases & Classifications for Juvenile Xanthogranuloma

MalaCards integrated aliases for Juvenile Xanthogranuloma:

Name: Juvenile Xanthogranuloma 12 58 54 15 17 70
Multiple Eruptive Juvenile Xanthogranuloma 12
Xanthogranuloma, Juvenile 44
Naevoxanthoendothelioma 12
Xanthoma Neviforme 12

Characteristics:

Orphanet epidemiological data:

58
juvenile xanthogranuloma
Inheritance: Not applicable;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4424
MeSH 44 D014972
NCIt 50 C3451
SNOMED-CT 67 71709009
MESH via Orphanet 45 D014972
ICD10 via Orphanet 33 D76.3
UMLS via Orphanet 71 C0043324
Orphanet 58 ORPHA158000
UMLS 70 C0043324

Summaries for Juvenile Xanthogranuloma

MalaCards based summary : Juvenile Xanthogranuloma, also known as multiple eruptive juvenile xanthogranuloma, is related to histiocytosis and langerhans cell histiocytosis, and has symptoms including pruritus and exanthema. An important gene associated with Juvenile Xanthogranuloma is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways is Innate Immune System. The drugs Olaparib and Vemurafenib have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and eye, and related phenotypes are glaucoma and multiple cafe-au-lait spots

Wikipedia : 73 Juvenile xanthogranuloma is a form of histiocytosis, classified as "non-Langerhans cell histiocytosis",... 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 272)
# Related Disease Score Top Affiliating Genes
1 histiocytosis 30.9 SERPINA3 S100B CD1A BRAF
2 langerhans cell histiocytosis 30.8 S100B FSCN1 F13A1 CD1A BRAF
3 rosai-dorfman disease 30.6 S100B FSCN1 BRAF
4 fibrous histiocytoma 30.5 SERPINA3 S100B F13A1
5 non-langerhans-cell histiocytosis 30.4 SERPINA3 F13A1 CD1E CD1A
6 generalized eruptive histiocytosis 30.3 S100B F13A1
7 epidermoid cysts 30.1 S100B S100A1
8 exophthalmos 30.0 CD1E CD1A
9 skin disease 29.9 SERPINA3 S100B F13A1 CD1A
10 pigmented villonodular synovitis 29.9 SERPINA3 PTPN11
11 malignant fibrous histiocytoma 29.9 SERPINA3 S100B F13A1
12 fibroma 29.8 SERPINA3 S100A1 F13A1
13 cutaneous fibrous histiocytoma 29.6 SERPINA3 S100B S100A1 MLANA F13A1
14 malignant astrocytoma 29.6 SERPINA3 S100B BRAF
15 erdheim-chester disease 29.6 SERPINA3 CD1E CD1A BRAF
16 reticulosarcoma 29.6 SERPINA3 FSCN1
17 neurofibroma 29.6 S100B S100A1 MLANA F13A1
18 dermatofibrosarcoma protuberans 29.5 SERPINA3 S100B S100A1 F13A1
19 reticulohistiocytic granuloma 29.5 SERPINA3 CD1E CD1A
20 meningioma, familial 29.5 SERPINA3 S100B S100A1 PTPN11
21 leiomyosarcoma 29.4 SERPINA3 S100B S100A1 MLANA
22 adult xanthogranuloma 29.3 SERPINA3 CD1E CD1A
23 cutaneous mastocytoma 11.1
24 neurofibromatosis 10.6
25 mastocytosis 10.4
26 leukemia, acute lymphoblastic 10.3
27 juvenile myelomonocytic leukemia 10.3
28 myopericytoma 10.3 S100B BRAF
29 fibrous meningioma 10.3 S100B F13A1
30 malignant iris melanoma 10.2 S100B S100A1
31 noonan syndrome and noonan-related syndrome 10.2 PTPN11 BRAF
32 mastocytosis, cutaneous 10.2
33 neurofibromatosis, type i 10.2
34 yemenite deaf-blind hypopigmentation syndrome 10.2
35 urticaria 10.2
36 hemangioma 10.2
37 intraneural perineurioma 10.2 S100B S100A1
38 perineurioma 10.2 S100B S100A1
39 lentigines 10.2 PTPN11 BRAF
40 lentigo maligna melanoma 10.2 S100B MLANA
41 meningeal melanocytoma 10.2 S100B MLANA
42 papillary tumor of the pineal region 10.2 S100A1 BRAF
43 angiolipoma 10.2 MLANA F13A1
44 chordoid meningioma 10.2 S100B S100A1
45 malignant triton tumor 10.2 S100B MLANA
46 ossifying fibromyxoid tumor 10.2 S100B S100A1
47 polymorphous low-grade adenocarcinoma 10.2 S100B S100A1
48 spiradenoma 10.2 S100B S100A1
49 spindle cell rhabdomyosarcoma 10.2 S100B S100A1
50 epithelioid malignant peripheral nerve sheath tumor 10.2 S100B MLANA

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
2 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
3 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
4 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
5 hyphema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011886
6 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
7 abnormality of the respiratory system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002086
8 abnormal oral mucosa morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011830
9 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
10 iritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001101
11 myeloproliferative disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005547
12 asymmetry of iris pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0200064

UMLS symptoms related to Juvenile Xanthogranuloma:


pruritus; exanthema

MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 BRAF F13A1 FSCN1 PMEL PTPN11 S100A1
2 integument MP:0010771 9.56 BRAF F13A1 FSCN1 MLANA PMEL PTPN11
3 pigmentation MP:0001186 9.02 BRAF FSCN1 MLANA PMEL PTPN11

Drugs & Therapeutics for Juvenile Xanthogranuloma

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olaparib Approved Phase 2 763113-22-0 23725625
2
Vemurafenib Approved Phase 2 918504-65-1 42611257 23252090
3
Piperazine Approved, Vet_approved Phase 2 110-85-0 4837
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
5
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 5330286 11431660
6
Mebendazole Approved, Vet_approved Phase 2 31431-39-7 4030
7
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
8
Ensartinib Investigational Phase 2 1370651-20-9
9
tipifarnib Investigational Phase 2 192185-72-1 159324
10 Piperazine citrate Phase 2
11 DMP 777 Phase 2 157341-41-8
12 Protein Kinase Inhibitors Phase 2
13 Poly(ADP-ribose) Polymerase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
2 A Phase 2 Study to Assess the Safety and Efficacy of Cobimetinib in Refractory Langerhans Cell Histiocytosis, LCH-Associated Neurodegenerative Disease, and Other Histiocytic Disorders. Not yet recruiting NCT04079179 Phase 2 Cobimetinib
3 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:

40
Skin, Bone Marrow, Eye, Tongue, Myeloid, Bone, Retina

Publications for Juvenile Xanthogranuloma

Articles related to Juvenile Xanthogranuloma:

(show top 50) (show all 786)
# Title Authors PMID Year
1
Systemic form of juvenile xanthogranuloma: report of a case with liver and bone marrow involvement. 54 61
15630537 2004
2
Factor XIIIa expression in juvenile xanthogranuloma. 61 54
7511867 1994
3
Congenital Giant Juvenile Xanthogranuloma in a 3-Month-Old Boy. 61
33326759 2021
4
Musculoskeletal imaging features of non-Langerhans cell histiocytoses. 61
33787962 2021
5
Rare presentation of juvenile xanthogranuloma in the posterior fossa of a toddler. 61
33771776 2021
6
Histiocytic Diseases of Neonates: Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Juvenile Xanthogranuloma. 61
33583503 2021
7
Intracranial juvenile xanthogranuloma in an infant. 61
33660104 2021
8
Histiocytosis and Neoplasms of Macrophage-Dendritic Cell Lineages: Multimodality Imaging with Emphasis on PET/CT. 61
33606566 2021
9
Fatal Disseminated Multiple Intracranial Juvenile Xanthogranuloma without Cutaneous and Other Organ Involvement: A Rare Case Report. 61
33735896 2021
10
Cutaneous Findings in Neurofibromatosis Type 1. 61
33530415 2021
11
Rare tumors in pediatric age group: Single center experience from Saudi Arabia. 61
33708364 2021
12
[A toddler with yellow nodules]. 61
33651514 2021
13
Juvenile xanthogranuloma: retrospective analysis of 44 pediatric cases (single tertiary care center experience). 61
33301172 2020
14
Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia. 61
33204594 2020
15
Successful Salvage Treosulfan-Based Megachemotherapy With Allogeneic Stem Cell Transplantation in Nonsyndromic, Therapy-Resistant Disseminated Juvenile Xanthogranuloma: A Case Report. 61
32684371 2020
16
Proptosis due to intraorbital space-occupying lesions in children. 61
32676791 2020
17
Solitary Intracranial Juvenile Xanthogranuloma Masquerading as Low-Grade Glioma - A Rare Case Report. 61
33342885 2020
18
Juvenile Xanthogranuloma: An Entity With a Wide Clinical Spectrum. 61
32721389 2020
19
Isolated Forefoot Juvenile Xanthogranuloma: Unique Case Study and Treatment in a Pediatric Patient. 61
32958356 2020
20
Elastophagocytosis in Juvenile Xanthogranuloma: A Case Report. 61
33201014 2020
21
Diagnosing juvenile xanthogranuloma with reflectance confocal microscopy. 61
32995422 2020
22
Dermoscopy of Juvenile Xanthogranuloma. 61
33075787 2020
23
Imaging features of neonatal systemic juvenile xanthogranuloma: a case report and review of the literature. 61
32981400 2020
24
Juvenile myelomonocytic leukaemia presentation after preceding juvenile xanthogranuloma harbouring an identical somatic PTPN11 mutation. 61
32558336 2020
25
Polymerase chain reaction-proven tuberculous anterior segment mass mimicking juvenile xanthogranuloma in a child. 61
32823470 2020
26
Bilateral Spontaneous Hyphema in Juvenile Xanthogranuloma: A Case Report. 61
33568985 2020
27
A Subcentimetric Nodule on the Penile Shaft. 61
32338090 2020
28
Descriptive Analysis of Histiocytic and Dendritic Cell Neoplasms: A Single-Institution Experience. 61
32882761 2020
29
A practical review of dermoscopy for pediatric dermatology part II: Vascular tumors, infections, and inflammatory dermatoses. 61
32749020 2020
30
Cutaneous manifestations in neurofibromatosis type 1. 61
32901776 2020
31
Multiple Xanthogranulomas in a Teenager. 61
32884872 2020
32
Solitary juvenile xanthogranuloma of the hypopharynx. Clinico-pathologic study in a child with β-Thalassemia Major and Cutaneous Mastocytosis. 61
32505931 2020
33
Extensive "stalagmite" epi-iridic juvenile xanthogranuloma simulating diffuse melanoma in a 16-year-old girl. 61
32621982 2020
34
Systemic Juvenile Xanthogranuloma has a Higher Frequency of ALK Translocations than BRAFV600E Mutations. 61
32822792 2020
35
Dasatinib induces a dramatic response in a child with refractory juvenile xanthogranuloma with a novel MRC1-PDGFRB fusion. 61
32609843 2020
36
Simultaneous occurrence of cutaneous mastocytosis and juvenile xanthogranuloma in a child: Random or true association? 61
32372415 2020
37
Acute Liver Failure due to Disseminated Juvenile Xanthogranuloma. 61
32671637 2020
38
Juvenile xanthogranulomas: Examining single, multiple, and extracutaneous presentations. 61
32468628 2020
39
Juvenile xanthogranuloma of the subdural spaces mimicking chronic hematoma with positive FDG uptake on PET: case report. 61
32679560 2020
40
Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. 61
32383820 2020
41
Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex. 61
32532290 2020
42
Therapy Response in a Pediatric Patient With Extracutaneous Juvenile Xanthogranuloma Monitored by FDG PET/CT. 61
32049719 2020
43
Ocular Juvenile Xanthogranuloma in an Older Teenager. 61
31999299 2020
44
Corneoscleral xanthogranuloma treated with chemotherapy: The room for nonsurgical management. 61
30813780 2020
45
Pediatric cellular neurothekeoma: Seven cases and systematic review of the literature. 61
31930561 2020
46
Anogenital Papular Lesions in Children Five Year Old and Younger: Gender Differences. 61
32317831 2020
47
Aggressive surgical management of recurrent intracranial juvenile xanthogranuloma: case report and review of the literature. 61
31385088 2020
48
Juvenile Xanthogranuloma: Case Report and Literature Review. 61
32158278 2020
49
Disseminated Juvenile Xanthogranuloma and Hemophagocytic Lymphohistiocytosis Developed During Treatment of Acute Lymphoblastic Leukemia: Case Report. 61
32719740 2020
50
[Successful unrelated cord blood transplantation for extensive meningeal juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis in a child]. 61
32507810 2020

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
Show member pathways
12.82 SERPINA3 S100B S100A1 PTPN11 FSCN1 F13A1

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 positive regulation of T cell mediated cytotoxicity GO:0001916 9.16 CD1E CD1A
2 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 8.96 CD1E CD1A
3 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 8.62 CD1E CD1A

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

# Name GO ID Score Top Affiliating Genes
1 S100 protein binding GO:0044548 9.26 S100B S100A1
2 lipopeptide binding GO:0071723 9.16 CD1E CD1A
3 exogenous lipid antigen binding GO:0030884 8.96 CD1E CD1A
4 endogenous lipid antigen binding GO:0030883 8.62 CD1E CD1A

Sources for Juvenile Xanthogranuloma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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