MCID: JVN003
MIFTS: 44

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 59 55 15 73
Multiple Eruptive Juvenile Xanthogranuloma 12
Xanthogranuloma, Juvenile 44
Naevoxanthoendothelioma 12
Xanthoma Neviforme 12

Characteristics:

Orphanet epidemiological data:

59
juvenile xanthogranuloma
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:4424
MeSH 44 D014972
NCIt 50 C3451
SNOMED-CT 68 71709009
Orphanet 59 ORPHA158000
MESH via Orphanet 45 D014972
UMLS via Orphanet 74 C0043324
ICD10 via Orphanet 34 D76.3
UMLS 73 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 are Cytoskeletal Signaling and Striated Muscle Contraction. The drugs Sirolimus and Vemurafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and tongue, and related phenotypes are blepharitis and glaucoma

Wikipedia : 76 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 148)
# Related Disease Score Top Affiliating Genes
1 histiocytosis 31.1 BRAF S100B
2 langerhans cell histiocytosis 30.8 BRAF F13A1 S100B
3 rosai-dorfman disease 30.3 FSCN1 S100B
4 non-langerhans-cell histiocytosis 29.5 BRAF DES F13A1 LYZ
5 cutaneous mastocytoma 11.3
6 leukemia 10.3
7 neurofibromatosis, type i 10.3
8 juvenile myelomonocytic leukemia 10.2
9 multicentric reticulohistiocytosis 10.2 F13A1 VIM
10 generalized eruptive histiocytosis 10.2 F13A1 S100B
11 granuloma annulare 10.2 F13A1 VIM
12 hydromyelia 10.2 S100B VIM
13 bednar tumor 10.2 S100B VIM
14 primary hepatic neuroendocrine carcinoma 10.2 S100B VIM
15 chordoid meningioma 10.2 S100B VIM
16 eccrine porocarcinoma 10.2 S100B VIM
17 myxopapillary ependymoma 10.2 S100B VIM
18 ependymoma 10.2 S100B VIM
19 monophasic synovial sarcoma 10.2 S100B VIM
20 spiradenoma 10.2 S100B VIM
21 angiocentric glioma 10.2 S100B VIM
22 papillary tumor of the pineal region 10.2 BRAF VIM
23 rhabdoid meningioma 10.2 BRAF VIM
24 anaplastic ependymoma 10.2 S100B VIM
25 alk+ histiocytosis 10.2 F13A1 FSCN1
26 adenofibroma 10.1 BRAF VIM
27 perineurioma 10.1 S100B VIM
28 myopericytoma 10.1 BRAF S100B
29 odontogenic myxoma 10.1 S100B VIM
30 metanephric adenoma 10.1 BRAF VIM
31 cerebral primitive neuroectodermal tumor 10.1 S100B VIM
32 hidradenocarcinoma 10.1 S100B VIM
33 polymorphous low-grade adenocarcinoma 10.1 S100B VIM
34 mastocytosis, cutaneous 10.1
35 leukemia, acute lymphoblastic 10.1
36 lymphocytic leukemia 10.1
37 urticaria 10.1
38 degos 'en cocarde' erythrokeratoderma 10.1
39 malignant giant cell tumor of soft parts 10.1 LYZ S100B
40 osteochondroma 10.1 S100B VIM
41 fibroblastic rheumatism 10.1 DES F13A1
42 optic nerve glioma 10.1 S100B VIM
43 liposarcoma 10.1 DES VIM
44 meningioma, radiation-induced 10.1 S100B VIM
45 epulis 10.1 DES VIM
46 infantile digital fibromatosis 10.1 DES VIM
47 fibromatosis 10.1 DES VIM
48 lymphangiomatosis 10.1 DES VIM
49 primitive neuroectodermal tumor of the cervix uteri 10.1 DES VIM
50 cutaneous leiomyosarcoma 10.1 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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
2 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
3 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
4 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
5 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
6 abnormality of the respiratory system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002086
7 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
8 iritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001101
9 myeloproliferative disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005547
10 hyphema 59 32 occasional (7.5%) Occasional (29-5%) HP:0011886
11 asymmetry of iris pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0200064
12 abnormality of oral mucosa 59 Occasional (29-5%)
13 abnormal oral mucosa morphology 32 occasional (7.5%) HP:0011830

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 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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
2
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Olaparib Approved Phase 2 763113-22-0 23725625
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5330286 5005498
7 Immunosuppressive Agents Phase 2
8 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
9 tyrosine Phase 2
10 Anti-Bacterial Agents Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Antifungal Agents Phase 2
13 Immunologic Factors Phase 2
14 Anti-Infective Agents Phase 2
15 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


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

41
Bone, Skin, Tongue, Bone Marrow, Liver, Myeloid, T Cells

Publications for Juvenile Xanthogranuloma

Articles related to Juvenile Xanthogranuloma:

(show top 50) (show all 448)
# Title Authors Year
1
The histological absence of IgG4 positive plasma cells in juvenile xanthogranuloma; comments on 'Systemic juvenile xanthogranuloma: a case report and brief review'. ( 30240020 )
2019
2
Dermoscopy in the diagnosis of juvenile xanthogranuloma. ( 29641718 )
2018
3
Risk of intraocular and other extracutaneous involvement in patients with cutaneous juvenile xanthogranuloma. ( 29488239 )
2018
4
Giant Juvenile Xanthogranuloma: Case Report, Literature Review, and Algorithm for Classification. ( 29783860 )
2018
5
Systemic juvenile xanthogranuloma: a case report and brief review. ( 29427327 )
2018
6
Solitary juvenile xanthogranuloma in the spine pretreated with neoadjuvant denosumab therapy followed by surgical resection in a 5-year-old child: case report and literature review. ( 29876657 )
2018
7
Oral juvenile xanthogranuloma in a child: Clinical, histological and immunohistochemical profile of a rare entity. ( 29624716 )
2018
8
Juvenile xanthogranuloma with angiomatous appearance and a peculiar immunophenotype. ( 29165834 )
2018
9
Extracutaneous variant of juvenile xanthogranuloma in an adult patient associated to follicular lymphoma. ( 29685314 )
2018
10
Reply to: "Is the setting sun dermoscopic pattern specific to juvenile xanthogranuloma?" ( 29332729 )
2018
11
Solitary Intraspinal Juvenile Xanthogranuloma in an Infant. ( 29492155 )
2018
12
Intracerebral juvenile xanthogranuloma: an infrequent involvement of hystiocitosis in children. ( 29797066 )
2018
13
Juvenile Xanthogranuloma in a Pediatric Patient with Langerhans Cell Histiocytosis. ( 29765943 )
2018
14
Juvenile xanthogranuloma involving concurrent iris and skin: Clinical, pathological and molecular pathological evaluations. ( 29468209 )
2018
15
Is the setting sun dermoscopic pattern specific to juvenile xanthogranuloma? ( 29332728 )
2018
16
Juvenile xanthogranuloma: A herald to the diagnosis of Erdheim-Chester disease in an adult with acute leukemia. ( 30117175 )
2018
17
BRAF V600E expression in juvenile xanthogranuloma occurring after Langerhans cell histiocytosis. ( 30430550 )
2018
18
Congenital-type juvenile xanthogranuloma: A case series and literature review. ( 29999209 )
2018
19
Reflectance confocal microscopy for the noninvasive diagnosis of cutaneous juvenile xanthogranuloma. ( 30019531 )
2018
20
Intradural Juvenile Xanthogranuloma with Involvement of Multiple Nerve Roots: A Case Report and Review of the Literature. ( 30096507 )
2018
21
Dermpath & Clinic: Juvenile xanthogranuloma. ( 30106001 )
2018
22
Iris Melanoma in a Child Simulating Juvenile Xanthogranuloma. ( 30122859 )
2018
23
Shiny white streaks in juvenile xanthogranuloma: a worrisome feature in a benign disorder. ( 30246956 )
2018
24
Multiple Juvenile Xanthogranuloma of the Eyelids. ( 30320084 )
2018
25
Recurrent Intracardiac Juvenile Xanthogranuloma in an Adult. ( 30447189 )
2018
26
Disseminated juvenile xanthogranuloma occurring after treatment of Langerhans cell histiocytosis: a case report. ( 29209883 )
2017
27
Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. ( 28512266 )
2017
28
Hemosiderotic Juvenile Xanthogranuloma. ( 28398921 )
2017
29
Iris juvenile xanthogranuloma in an infant - spontaneous hyphema and secondary glaucoma. ( 29450403 )
2017
30
A Case with Juvenile Xanthogranuloma and Progressive Nodular Histiocytosis Overlap. ( 28297144 )
2017
31
Oral Juvenile Xanthogranuloma: Report of Two Cases. ( 28583250 )
2017
32
A rare case of intramedullary solitary juvenile xanthogranuloma of the lumbar spine in the adult: a case report. ( 29057365 )
2017
33
A Rare Case of Solitary Giant Congenital Juvenile Xanthogranuloma: A Case Report. ( 28300446 )
2017
34
Congenital juvenile xanthogranuloma with ulceration: a pediatric case report. ( 29469704 )
2017
35
Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity. ( 28752840 )
2017
36
A Case of Segmental (Zosteriform) Juvenile Xanthogranuloma. ( 29200778 )
2017
37
Ultrasound Appearance of Juvenile Xanthogranuloma. ( 28372783 )
2017
38
BRAF V600E Mutation in Pediatric Intracranial and Cranial Juvenile Xanthogranuloma. ( 28504206 )
2017
39
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study. ( 28189268 )
2017
40
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
41
Severe systemic juvenile xanthogranuloma is an indication for systemic therapy. ( 28244093 )
2017
42
A Japanese infant with systemic juvenile xanthogranuloma mimicking severe microangiopathy. ( 28500427 )
2017
43
Systemic juvenile xanthogranuloma: a case of spontaneous regression of intramedullary spinal cord, cerebral, and cutaneous lesions. ( 28960169 )
2017
44
Neonatal glaucoma associated with juvenile xanthogranuloma: Case report. ( 28522113 )
2017
45
Dermoscopy of giant juvenile xanthogranuloma. ( 28087040 )
2017
46
Intraocular juvenile xanthogranuloma of the iris in an adult patient. ( 29503951 )
2017
47
Coexistence of Classic and a Mononuclear Variant of Juvenile Xanthogranuloma in an Adult Patient. ( 27081282 )
2016
48
Color Doppler Sonography of Cutaneous Juvenile Xanthogranuloma With Clinical and Histologic Correlations. ( 26635254 )
2016
49
Juvenile Xanthogranuloma: Presenting as an Isolated Renal Involvement. ( 27367608 )
2016
50
A Cutaneous Horn-Like Form of Juvenile Xanthogranuloma. ( 27904287 )
2016

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 cytokine-mediated signaling pathway GO:0019221 9.33 F13A1 FSCN1 VIM
2 long-term synaptic potentiation GO:0060291 9.26 BRAF S100B
3 muscle filament sliding GO:0030049 8.96 DES VIM
4 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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