Hand-Schüller-Christian disease
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
Multifocal eosinophilic granuloma
Chronic and multifocal Langerhans cell histiocytosis
|
|
Number of Symptoms
|
7
|
|
OrphanetNr:
|
99873
|
|
OMIM Id:
|
|
|
ICD-10:
|
C96.5
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Langerhans cell histiocytosis in childhood and adulthood
-Rare respiratory disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
2
|
(HPO:0000873)
|
Diabetes insipidus |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
3
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
4
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
5
|
(HPO:0002113)
|
Pulmonary infiltrates |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
6
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |