MCID: JVN003
MIFTS: 44

Juvenile Xanthogranuloma malady

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

Aliases & Classifications for Juvenile Xanthogranuloma

Aliases & Descriptions 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 histiocytosis and cortical blindness, and has symptoms including blepharitis, glaucoma and visual loss. 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 tongue, and related phenotype is homeostasis/metabolism.

Wikipedia : 71 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 147)
id Related Disease Score Top Affiliating Genes
1 histiocytosis 10.3
2 cortical blindness 10.3 F13A1 VIM
3 alopecia universalis onychodystrophy vitiligo 10.3 F13A1 FSCN1
4 hematologic cancer 10.3 F13A1 VIM
5 13q12.3 microdeletion syndrome 10.2 DES VIM
6 neurofibromatosis 10.2
7 inflammatory linear verrucous epidermal nevus 10.2 DES VIM
8 lymphomatous thyroiditis 10.2 DES VIM
9 osteomyelitis 10.2 DES VIM
10 reticulohistiocytic granuloma 10.2 DES F13A1
11 marfanoid hypermobility syndrome 10.2 DES VIM
12 malignant dermis tumor 10.2 DES VIM
13 urethral cancer 10.2 DES VIM
14 adult endodermal sinus tumor 10.2 DES VIM
15 tanycytic ependymoma 10.2 DES VIM
16 biemond syndrome 10.2 DES VIM
17 liver angiosarcoma 10.2 DES VIM
18 intestinal obstruction 10.2 DES VIM
19 male reproductive system disease 10.2 DES VIM
20 petrous apex meningioma 10.2 DES VIM
21 male urethral cancer 10.2 DES VIM
22 house allergic alveolitis 10.2 DES F13A1
23 coronary stenosis 10.2 DES VIM
24 sebaceous adenoma 10.2 DES VIM
25 anal gland neoplasm 10.2 DES VIM
26 glomangioma 10.2 DES VIM
27 typical urticaria pigmentosa 10.2 F13A1 S100B
28 omodysplasia 2 10.2 DES VIM
29 congenital muscular dystrophy with hyperlaxity 10.2 DES VIM
30 t-cell childhood lymphoblastic lymphoma 10.2 DES VIM
31 pilar sheath acanthoma 10.2 DES VIM
32 lupus - neurological sequelae 10.2 S100B VIM
33 benign schwannoma 10.2 S100B VIM
34 lung benign neoplasm 10.2 DES VIM
35 leukemia 10.2
36 jejunal neuroendocrine tumor 10.2 S100B VIM
37 fitz-hugh-curtis syndrome 10.2 DES VIM
38 microinvasive cervical squamous cell carcinoma 10.2 S100B VIM
39 subglottis verrucous carcinoma 10.1 S100B VIM
40 conjunctival cancer 10.1 S100B VIM
41 clear cell ependymoma 10.1 S100B VIM
42 orthostatic proteinuria 10.1 DES VIM
43 behcet's syndrome arthropathy 10.1 S100B VIM
44 sternum cancer 10.1 S100B VIM
45 demyelinating disease 10.1 LYZ PMEL
46 aneurysm of sinus of valsalva 10.1 S100B VIM
47 intrahepatic bile duct cystadenoma 10.1 DES S100B
48 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.1 S100B VIM
49 ovarian cystadenoma 10.1 DES S100B
50 stomach diverticulosis 10.1 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 (29-5%) HP:0000498
2 glaucoma 56 32 Occasional (29-5%) HP:0000501
3 visual loss 56 32 Occasional (29-5%) HP:0000572
4 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
5 proptosis 56 32 Occasional (29-5%) HP:0000520
6 abnormality of the respiratory system 56 32 Occasional (29-5%) HP:0002086
7 abnormality of oral mucosa 56 32 Occasional (29-5%) HP:0011830
8 uveitis 56 32 Occasional (29-5%) HP:0000554
9 iritis 56 32 Occasional (29-5%) HP:0001101
10 myeloproliferative disorder 56 32 Occasional (29-5%) HP:0005547
11 hyphema 56 32 Occasional (29-5%) HP:0011886
12 asymmetry of iris pigmentation 56 32 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 10)
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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Advanced Refractory Solid Tumors or Lymphomas Not yet recruiting NCT03155620 Phase 2
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, Tongue, Brain, Bone Marrow, Myeloid, Liver

Publications for Juvenile Xanthogranuloma

Articles related to Juvenile Xanthogranuloma:

(show top 50) (show all 395)
id Title Authors Year
1
Dermoscopy of giant juvenile xanthogranuloma. ( 28087040 )
2017
2
Juvenile Xanthogranuloma in Vulva of a 10-Year-Old Child. ( 28050386 )
2016
3
Coexistence of Classic and a Mononuclear Variant of Juvenile Xanthogranuloma in an Adult Patient. ( 27081282 )
2016
4
A Cutaneous Horn-Like Form of Juvenile Xanthogranuloma. ( 27904287 )
2016
5
New Ultrasound Biomicroscopy Iris Findings in Juvenile Xanthogranuloma. ( 27483333 )
2016
6
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
7
Juvenile Xanthogranuloma: Presenting as an Isolated Renal Involvement. ( 27367608 )
2016
8
Color Doppler Sonography of Cutaneous Juvenile Xanthogranuloma With Clinical and Histologic Correlations. ( 26635254 )
2016
9
Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. ( 27435377 )
2016
10
Imaging Features of Juvenile Xanthogranuloma of the Pediatric Head and Neck. ( 26744443 )
2016
11
Bilateral conjunctival Splendore-Hoeppli phenomenon associated with juvenile xanthogranuloma. ( 26874167 )
2016
12
Juvenile xanthogranuloma of supra-sellar region: a rare presentation. ( 26308252 )
2015
13
Solitary juvenile xanthogranuloma of the cervical spine in a child: A case report and review of literature. ( 25767592 )
2015
14
Solitary Ulcerated Congenital Giant Juvenile Xanthogranuloma. ( 26288431 )
2015
15
Juvenile xanthogranuloma with bilateral retinal detachment. ( 25787311 )
2015
16
Multimodal imaging for detection of clinically inapparent diffuse iris juvenile xanthogranuloma. ( 25992541 )
2015
17
Solitary juvenile xanthogranuloma with tibial involvement: a case report. ( 25755703 )
2015
18
Ulcerated Spitz nevus masquerading as a juvenile xanthogranuloma. ( 25441121 )
2015
19
Solitary (juvenile) xanthogranuloma: a comprehensive immunohistochemical study emphasizing recently developed markers of histiocytic lineage. ( 26220162 )
2015
20
Juvenile xanthogranuloma-a rare cause of unilateral orbital swelling in an elderly patient. ( 25804289 )
2015
21
Juvenile Xanthogranuloma. ( 26711132 )
2015
22
Superficial and deep infiltrating congenital juvenile xanthogranuloma involving multiple skeletal muscles and associated with ulceration and generalized postinvolution atrophy. ( 25996675 )
2015
23
Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. ( 26637774 )
2015
24
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
25
Letter to the editor of Acta Neurochirurgica: case of an isolated intracranial juvenile xanthogranuloma in a 34-year-old man. ( 26126765 )
2015
26
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. ( 25801534 )
2015
27
Ocular juvenile xanthogranuloma. ( 25969381 )
2015
28
Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia. ( 25516272 )
2015
29
Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review. ( 25503249 )
2015
30
Juvenile Xanthogranuloma Involving the Eye and Ocular Adnexa: Tumor Control, Visual Outcomes, and Globe Salvage in 30A Patients. ( 26189188 )
2015
31
Dermoscopic "setting sun" pattern of juvenile xanthogranuloma. ( 25500052 )
2015
32
Massive macronodular juvenile xanthogranuloma of the eyelid in a newborn. ( 24698623 )
2014
33
Juvenile xanthogranuloma: unusual intraoral finding. ( 25300889 )
2014
34
Recurrent juvenile xanthogranuloma manifesting as diffuse miliary brain lesions. ( 24827069 )
2014
35
Solitary juvenile xanthogranuloma in cervical spine: case report and review of the literature. ( 24535803 )
2014
36
Juvenile xanthogranuloma: a case report and review of the literature. ( 24666806 )
2014
37
Erosive and mitotically active juvenile xanthogranuloma on the neck of an infant. ( 25187300 )
2014
38
Giant congenital juvenile xanthogranuloma presenting as a yellowish atrophic plaque. ( 24806539 )
2014
39
Juvenile Xanthogranuloma of adult spine: A rare case and review of literature. ( 25685229 )
2014
40
Juvenile xanthogranuloma: a rare benign histiocytic disorder. ( 25097495 )
2014
41
Three different ophthalmic presentations of juvenile xanthogranuloma. ( 24914080 )
2014
42
Alteration of dermoscopic features in a juvenile xanthogranuloma during follow-up of 43A months. ( 25266925 )
2014
43
Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy. ( 25490241 )
2014
44
Juvenile xanthogranuloma presenting as a large neck mass and ocular complications: a diagnostic and therapeutic dilemma. ( 24810447 )
2014
45
Isolated intracranial juvenile xanthogranuloma. A report of two cases and review of the literature. ( 25281434 )
2014
46
Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood. ( 24582118 )
2014
47
Clofarabine salvage therapy in refractory multifocal histiocytic disorders, including Langerhans cell histiocytosis, juvenile xanthogranuloma and Rosai-Dorfman disease. ( 24106153 )
2014
48
Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. ( 24258576 )
2014
49
An 8-month-old girl with an enlarging lesion on her face. Juvenile xanthogranuloma. ( 24549084 )
2014
50
Old-age-onset subconjunctival juvenile xanthogranuloma without limbal involvement. ( 24602225 )
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....