MCID: JVN003
MIFTS: 41

Juvenile Xanthogranuloma malady

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

Aliases & Classifications for Juvenile Xanthogranuloma

About this section
Sources:
11Disease Ontology, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Juvenile Xanthogranuloma:

Name: Juvenile Xanthogranuloma 11 13 52 48 66
Multiple Eruptive Juvenile Xanthogranuloma 11
Xanthogranuloma, Juvenile 37
 
Naevoxanthoendothelioma 11
Xanthoma Neviforme 11

Characteristics:

Orphanet epidemiological data:

52
juvenile xanthogranuloma:
Inheritance: Not applicable

Classifications:



External Ids:

Disease Ontology11 DOID:4424
MeSH37 D014972
NCIt43 C3451
Orphanet52 ORPHA158000
ICD10 via Orphanet29 D76.3
MESH via Orphanet38 D014972
UMLS via Orphanet67 C0043324

Summaries for Juvenile Xanthogranuloma

About this section
Wikipedia:69 Juvenile xanthogranuloma is a form of histiocytosis, classified as \"non-Langerhans cell... more...

MalaCards based summary: Juvenile Xanthogranuloma, also known as multiple eruptive juvenile xanthogranuloma, is related to hemangioma and transitional meningioma, and has symptoms including abnormality of the oral cavity, visual impairment and abnormality of the anterior chamber. An important gene associated with Juvenile Xanthogranuloma is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways are Striated Muscle Contraction and Aurora B signaling. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are respiratory system and cardiovascular system.

Related Diseases for Juvenile Xanthogranuloma

About this section

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 108)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioma30.4F13A1, VIM
2transitional meningioma10.5F13A1, VIM
3myopia10.5F13A1, VIM
4soft tissue peripheral neuroepithelioma10.4DES, F13A1
5harding ataxia10.4DES, VIM
6absence of fingerprints congenital milia10.4DES, VIM
7lymphocytic vasculitis10.4DES, VIM
8skin lipoma10.4DES, VIM
9lymphangiosarcoma10.4DES, VIM
10chondroblastoma10.4DES, VIM
11histiocytosis10.4
12anterograde amnesia10.4DES, VIM
13pulmonary venoocclusive disease10.4DES, VIM
14perivascular epithelioid cell tumor10.4F13A1, VIM
15monophasic synovial sarcoma10.4DES, VIM
16mollaret meningitis10.4DES, VIM
17bartholin's gland benign neoplasm10.4DES, VIM
18langerhans-cell histiocytosis10.4
19sclerosing liposarcoma10.4DES, VIM
20focal chorioretinitis10.4DES, VIM
21neurofibromatosis10.4
22malignant glandular tumor of peripheral nerve sheath10.4DES, VIM
23skin glomangioma10.3DES, VIM
24parachordoma10.3DES, VIM
25angora hair nevus10.3DES, VIM
26short-rib thoracic dysplasia 1210.3DES, VIM
27gangliocytoma10.3DES, VIM
28t-cell childhood acute lymphocytic leukemia10.3DES, VIM
29emerinopathy10.3DES, VIM
30leukemia10.3
31fibrosing mediastinitis10.3DES, VIM
32staphyloenterotoxemia10.3DES, VIM
33frontal sinus squamous cell carcinoma10.2DES, VIM
34mild phosphoribosylpyrophosphate synthetase superactivity10.2DES, VIM
35lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy10.2F13A1, VIM
36retroperitoneal germ cell neoplasm10.2LYZ, VIM
37anus leiomyosarcoma10.2DES, VIM
38pancreatic intraductal papillary-mucinous adenoma10.1CD163, LYZ
39cervicitis10.1
40luteoma10.1CD163, LYZ
41megarbane jalkh syndrome10.1DES, VIM
42hyperpituitarism10.1CD163, LYZ
43adenosquamous bile duct carcinoma10.1CD163, LYZ
44renal tubular acidosis, distal, autosomal recessive10.0DES, VIM
45pustulosis of palm and sole10.0CD163, LYZ
46neurofibromatosis, type 110.0
47urticaria pigmentosa10.0
48urticaria10.0
49rosai-dorfman disease10.0
50cerebrovascular disease10.0DES, NF1

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



Diseases related to juvenile xanthogranuloma

Symptoms for Juvenile Xanthogranuloma

About this section

Symptoms:

 52 (show all 12)
  • blepharitis
  • glaucoma
  • proptosis
  • uveitis
  • visual loss
  • iritis
  • abnormality of the respiratory system
  • myeloproliferative disorder
  • multiple cafe-au-lait spots
  • abnormality of oral mucosa
  • hyphema
  • asymmetry of iris pigmentation

HPO human phenotypes related to Juvenile Xanthogranuloma:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity occasional (7.5%) HP:0000163
2 visual impairment occasional (7.5%) HP:0000505
3 abnormality of the anterior chamber occasional (7.5%) HP:0000593
4 cafe-au-lait spot occasional (7.5%) HP:0000957
5 leukemia occasional (7.5%) HP:0001909
6 abnormality of the respiratory system occasional (7.5%) HP:0002086
7 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

UMLS symptoms related to Juvenile Xanthogranuloma:


exanthema, pruritus, skin manifestations, tumor-like lesion of skin

Drugs & Therapeutics for Juvenile Xanthogranuloma

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Juvenile Xanthogranuloma


Cochrane evidence based reviews: xanthogranuloma, juvenile

Genetic Tests for Juvenile Xanthogranuloma

About this section

Anatomical Context for Juvenile Xanthogranuloma

About this section

MalaCards organs/tissues related to Juvenile Xanthogranuloma:

34
Skin, Bone, Eye, Tongue, Brain, Bone marrow, Myeloid

Animal Models for Juvenile Xanthogranuloma or affiliated genes

About this section

MGI Mouse Phenotypes related to Juvenile Xanthogranuloma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4F13A1, LYZ, NF1, VIM
2MP:00053857.9DES, F13A1, LYZ, NF1, VIM

Publications for Juvenile Xanthogranuloma

About this section

Articles related to Juvenile Xanthogranuloma:

(show top 50)    (show all 392)
idTitleAuthorsYear
1
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
2
Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. (27435377)
2016
3
In vivo evaluation of juvenile xanthogranuloma with high-resolution optical coherence tomography and reflectance confocal microscopy and histopathological correlation. (25801534)
2015
4
Juvenile xanthogranuloma of supra-sellar region: a rare presentation. (26308252)
2015
5
Intracardiac juvenile xanthogranuloma with presentation in adulthood. (24012116)
2014
6
Erosive and mitotically active juvenile xanthogranuloma on the neck of an infant. (25187300)
2014
7
Case series of volar juvenile xanthogranuloma: clinical observation of a peripheral rim of hyperkeratosis. (25227151)
2014
8
Isolated intracranial juvenile xanthogranuloma. A report of two cases and review of the literature. (25281434)
2014
9
Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy. (25490241)
2014
10
Juvenile xanthogranuloma: a rare benign histiocytic disorder. (25097495)
2014
11
Juvenile Xanthogranuloma: Diverse Presentations of Noncutaneous Disease. (24065046)
2013
12
Isolated intraspinal juvenile xanthogranuloma in an infant presenting as acute paraplegia. (23254572)
2013
13
Isolated juvenile xanthogranuloma in the larynx of a three-year-old child. (23801051)
2013
14
Infantile juvenile xanthogranuloma of the chest wall mimicking mesenchymal hamartoma: report of a case. (22864545)
2012
15
Nonlipidized juvenile xanthogranuloma: an unusual variant with a potential diagnostic pitfall. (22204961)
2012
16
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
17
Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. (21626171)
2011
18
Rapid-growing juvenile xanthogranuloma: The reality of a second opinion teleconsultation. Letters to the editor. (20695867)
2010
19
Solitary juvenile xanthogranuloma of the temporal muscle and bone penetrating the dura mater in a 2-month-old boy. (19951050)
2009
20
An 'eruptive' variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis. (18840155)
2008
21
Juvenile xanthogranuloma en plaque. (18036001)
2007
22
An unusual presentation of juvenile xanthogranuloma. (17958822)
2007
23
Severe astigmatic amblyopia secondary to subcutaneous juvenile xanthogranuloma of the eyelid. (16814185)
2006
24
Juvenile xanthogranuloma associated with contralateral lymphadenopathy. (16190992)
2005
25
Linear juvenile xanthogranuloma. (15283809)
2004
26
Successful treatment of congenital systemic juvenile xanthogranuloma with Langerhans cell histiocytosis-based chemotherapy. (15167350)
2004
27
Histopathologic maturation of juvenile xanthogranuloma in a short period. (11358553)
2001
28
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
29
Juvenile xanthogranuloma of the tongue. (11077357)
2000
30
Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature. (10658117)
1999
31
Giant juvenile xanthogranuloma of the tongue. (10442777)
1999
32
Juvenile xanthogranuloma presenting as obstructive jaundice. (10442591)
1999
33
Juvenile xanthogranuloma of the eyelid in an adult. (9823370)
1998
34
Giant juvenile xanthogranuloma present since birth. (9746103)
1998
35
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
36
Juvenile xanthogranuloma occurring in the oral cavity: case report and histopathological findings. (9416582)
1997
37
Juvenile xanthogranuloma. (9091465)
1997
38
Juvenile xanthogranuloma on the palm. (9122074)
1996
39
Juvenile xanthogranuloma. (7616589)
1995
40
Juvenile xanthogranuloma with extra-cutaneous lesions--a case report. (7748839)
1994
41
Unusual aspects of juvenile xanthogranuloma. (8408830)
1993
42
Histiocytic tumor of Meckel's cave. An intracranial equivalent of juvenile xanthogranuloma of the skin. (1728198)
1992
43
Congenital macronodular juvenile xanthogranuloma of the eyelid. (1923358)
1991
44
Juvenile xanthogranuloma and neurofibromatosis. (1792210)
1991
45
Juvenile xanthogranuloma with pulmonary lesions. (3124069)
1988
46
Pathologic quiz case 1. Adolescent (juvenile) xanthogranuloma. (3118907)
1987
47
Juvenile xanthogranulomas and xanthoma disseminatum--variations on a single theme. (3088071)
1986
48
Juvenile xanthogranuloma with recurrent subdural effusions. (6789861)
1981
49
Intraoral and cutaneous juvenile xanthogranuloma. (6774651)
1980
50
Juvenile xanthogranuloma. (4629468)
1972

Variations for Juvenile Xanthogranuloma

About this section

Expression for genes affiliated with Juvenile Xanthogranuloma

About this section
Search GEO for disease gene expression data for Juvenile Xanthogranuloma.

Pathways for genes affiliated with Juvenile Xanthogranuloma

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.6DES, VIM
2
Show member pathways
9.6DES, VIM

GO Terms for genes affiliated with Juvenile Xanthogranuloma

About this section

Cellular components related to Juvenile Xanthogranuloma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.6DES, VIM
2intermediate filament cytoskeletonGO:00451119.3DES, VIM

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.6DES, VIM
2intermediate filament organizationGO:00451099.3DES, VIM

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.6DES, VIM

Sources for Juvenile Xanthogranuloma

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet