Hemophagocytic lymphohistiocytosis, familial, 1
| Disorder | |
|---|---|
| OMIM #: | %267700 (Click to access OMIM database) |
| Disorder: | Hemophagocytic lymphohistiocytosis, familial, 1 |
| Also known as: | FHL HPLH HLH Reticulosis, familial histiocytic Hemophagocytic reticulosis, familial Erythrophagocytic lymphohistiocytosis familial FEL |
| Clinical | |
| Phenotype: | Disease presents at 3 months of age, hepatomegaly, lymphadenopathy, overproduction of cytokines, reduced natural killer cell cytotoxicity, high fever, hemolytic anemia, raised platelet counts, clinically resembles acute leukemia, bulging fontanelle, meningitis, encephalitis, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Cutbush W, De Veber LL, and Rathbun JC. (1974) Familial histiocytosis (Abstract) Canad. Res. Soc. Meeting, St. John's Newfoundland . |
| De Veber LL. (1974) Personal Communication. London, Ontario, Canada. |
| Donohue WL. (1968) Personal Communication. Toronto, Ontario, Canada. |
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