Letterer-Siwe disease

General Information (adopted from Orphanet):

Synonyms, Signs: L-S DISEASE
HISTIOCYTOSIS X, ACUTE DISSEMINATED
LESD
Acute and disseminated Langerhans cell histiocytosis
Number of Symptoms 23
OrphanetNr: 99870
OMIM Id: 246400
ICD-10: C96.0
UMLs: C0023381
MeSH: C538636
MedDRA: 10024265
Snomed: 118614007
128812005

Prevalence, inheritance and age of onset:

Prevalence: 0.2 of 100 000 [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Langerhans cell histiocytosis specific to childhood
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0010280) Stomatitis 8 / 7739
2
 (HPO:0000737) Irritability 93 / 7739
3
 (HPO:0001298) Encephalopathy 72 / 7739
4
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
5
 (HPO:0000952) Jaundice 105 / 7739
6
 (HPO:0003270) Abdominal distention 46 / 7739
7
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
8
 (HPO:0000980) Pallor 52 / 7739
9
 (HPO:0001051) Seborrheic dermatitis 25 / 7739
10
 (HPO:0001875) Neutropenia 83 / 7739
11
 (HPO:0001903) Anemia 289 / 7739
12
 (HPO:0001873) Thrombocytopenia 224 / 7739
13
 (HPO:0001945) Fever 218 / 7739
14
 (HPO:0002113) Pulmonary infiltrates 36 / 7739
15
 (HPO:0002094) Dyspnea 132 / 7739
16
 (OMIM) Histiocytic infiltration of the liver, spleen and lymph nodes 1 / 7739
17
 (OMIM) Infantile irritability 3 / 7739
18
 (OMIM) Lytic osseous lesions 1 / 7739
19
 (OMIM) Scaly petechial dermatitis 1 / 7739
20
 (OMIM) Histiocytosis X (eosinophilic granuloma) 1 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Intertriginous denudation 1 / 7739
23
 (OMIM) Diffuse papulo-vesicular rash 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: