Juvenile xanthogranuloma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 158000
OMIM Id:
ICD-10: D76.3
UMLs: C0043324
MeSH: D014972
MedDRA:
Snomed: 400031009
400204000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Non-Langerhans cell histiocytosis
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0011830) Abnormality of oral mucosa Occasional [Orphanet] 47 / 7739
2
 (HPO:0000593) Abnormality of the anterior chamber Occasional [Orphanet] 15 / 7739
3
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
4
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
5
 (HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
6
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
7
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
8
 (HPO:0012252) Abnormal respiratory system morphology Occasional [Orphanet] 14 / 7739
9
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: