Juvenile xanthogranuloma

Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.



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Total: 231 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
161
(5.0%)
814522
[Juvenile xanthogranuloma of the uvea in an adult].
Hamburg A.
Ophthalmologica. 1976;172(4):273-81.
Glaucoma
Adult Homo sapiens Juvenile Xanthogranuloma Male
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000498 Blepharitis Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000554 Uveitis Occasional (29-5%)
HP:0000572 Visual loss Occasional (29-5%)
HP:0001101 Iritis Occasional (29-5%)
HP:0002086 Abnormality of the respiratory system Occasional (29-5%)
HP:0005547 Myeloproliferative disorder Occasional (29-5%)
HP:0007565 Multiple cafe-au-lait spots Occasional (29-5%)
HP:0011830 Abnormal oral mucosa morphology Occasional (29-5%)
HP:0011886 Hyphema Occasional (29-5%)
HP:0200064 Asymmetry of iris pigmentation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 50

HPO ID Term # of case reports
HP:0100727 Histiocytosis 17
HP:0011886 Hyphema 11
HP:0200034 Papule 9
HP:0000501 Glaucoma 7
HP:0002861 Melanoma 7
HP:0032252 Granuloma 6
HP:0012315 Histiocytoma 4
HP:0000646 Amblyopia 3
HP:0001028 Hemangioma 3
HP:0001909 Leukemia 3
HP:0002664 Neoplasm 3
HP:0003764 Nevus 3
HP:0000520 Proptosis 2
HP:0000991 Xanthomatosis 2
HP:0200040 Epidermoid cyst 2
HP:0000508 Ptosis 1
HP:0000518 Cataract 1
HP:0000952 Jaundice 1
HP:0000957 Cafe-au-lait spot 1
HP:0000962 Hyperkeratosis 1
HP:0000989 Pruritus 1
HP:0001059 Pterygium 1
HP:0001075 Atrophic scars 1
HP:0001114 Xanthelasma 1
HP:0001250 Seizures 1
HP:0001433 Hepatosplenomegaly 1
HP:0001698 Pericardial effusion 1
HP:0001873 Thrombocytopenia 1
HP:0001903 Anemia 1
HP:0002094 Dyspnea 1
HP:0002488 Acute leukemia 1
HP:0002666 Pheochromocytoma 1
HP:0002671 Basal cell carcinoma 1
HP:0002716 Lymphadenopathy 1
HP:0002835 Aspiration 1
HP:0002860 Squamous cell carcinoma 1
HP:0007902 Vitreous hemorrhage 1
HP:0010550 Paraplegia 1
HP:0010566 Hamartoma 1
HP:0010980 Hyperlipoproteinemia 1
HP:0011002 Osteopetrosis 1
HP:0012324 Myeloid leukemia 1
HP:0012384 Rhinitis 1
HP:0012733 Macule 1
HP:0025511 Nevus sebaceus 1
HP:0030071 Medulloepithelioma 1
HP:0032163 Molluscum contagiosum 1
HP:0032404 Testicular mass 1
HP:0100532 Scleritis 1
HP:0100534 Episcleritis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID