Sea-blue histiocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: HISTIOCYTOSIS, SEA-BLUE
SEA-BLUE HISTIOCYTOSIS
Number of Symptoms 20
OrphanetNr: 158029
OMIM Id: 269600
ICD-10: D76.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic disease
 -Rare genetic disease
Systemic non-Langerhans cell histiocytosis
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000498) Blepharitis Very frequent [Orphanet] 27 / 7739
2
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
3
 (HPO:0000478) Abnormality of the eye 126 / 7739
4
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
5
 (HPO:0001394) Cirrhosis 102 / 7739
6
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
7
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
8
 (HPO:0002221) Absent axillary hair 6 / 7739
9
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
10
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
11
 (HPO:0001982) Sea-blue histiocytosis 7 / 7739
12
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
13
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
14
 (HPO:0000969) Edema Very frequent [Orphanet] 117 / 7739
15
 (HPO:0002113) Pulmonary infiltrates Frequent [Orphanet] 36 / 7739
16
 (HPO:0100721) Mediastinal lymphadenopathy Very frequent [Orphanet] 19 / 7739
17
 (OMIM) Numerous bone marrow histiocytes with cytoplasmic granules which stain bright blue with the usual hematologic stains 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) White ring surrounding the macula 1 / 7739
20
 (OMIM) Mild thrombocytopenia 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM This disorder is characterized by splenomegaly, mild thrombocytopenia, and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The name was coined by Silverstein et al. (1970). Holland et ...
Molecular genetics OMIM Nguyen et al. (2000) described 2 unrelated probands with primary sea-blue histiocytosis who had normal or mildly elevated serum triglyceride concentrations that markedly increased after splenectomy. They provided evidence linking the syndrome to an inherited dominant APOE mutation ...