Eosinophilic granuloma

General Information (adopted from Orphanet):

Synonyms, Signs: Chronic and localized Langerhans cell histiocytosis
Number of Symptoms 27
OrphanetNr: 99871
OMIM Id:
ICD-10: C96.6
UMLs: C0014461
MeSH: D004803
MedDRA: 10014956
Snomed: 129000002

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

Symptom Information: Sort by abundance 

1
 (HPO:0000695) Natal tooth Very frequent [Orphanet] 42 / 7739
2
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
3
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
4
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
6
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
7
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
8
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
9
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
10
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
11
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
12
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
13
 (HPO:0010622) Neoplasm of the skeletal system Frequent [Orphanet] 30 / 7739
14
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
15
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
16
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
17
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
18
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
19
 (HPO:0002113) Pulmonary infiltrates Frequent [Orphanet] 36 / 7739
20
 (HPO:0002091) Restrictive ventilatory defect Occasional [Orphanet] 46 / 7739
21
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
22
 (HPO:0100526) Neoplasm of the lung Occasional [Orphanet] 26 / 7739
23
 (HPO:0006510) Chronic obstructive pulmonary disease Occasional [Orphanet] 19 / 7739
24
 (HPO:0002097) Emphysema Occasional [Orphanet] 40 / 7739
25
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
26
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
27
 ([DEL]MedDRA:10011224) Cough Occasional [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: