HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3

General Information (adopted from Orphanet):

Synonyms, Signs: HPLH3
FHL3
HLH3
Number of Symptoms 9
OrphanetNr:
OMIM Id: 608898
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001433) Hepatosplenomegaly 16825436 IBIS 78 / 7739
2
(HPO:0001913) Granulocytopenia 11/14 [HPO:probinson] 16825436 IBIS 5 / 7739
3
(HPO:0012178) Reduced natural killer cell activity 13/13 [HPO:probinson] 16825436 IBIS 3 / 7739
4
(HPO:0012156) Hemophagocytosis 16825436 IBIS 9 / 7739
5
(HPO:0011900) Hypofibrinogenemia 16825436 IBIS 8 / 7739
6
(HPO:0001903) Anemia 12/14 [HPO:probinson] 16825436 IBIS 289 / 7739
7
(HPO:0002155) Hypertriglyceridemia 16825436 IBIS 67 / 7739
8
(HPO:0001945) Fever 16825436 IBIS 218 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (170280)-containing lytic granules to the target cell interface, followed by ...
Clinical Description OMIM Feldmann et al. (2003) identified a novel HPLH subtype, HPLH3, in 10 patients from 7 unrelated families. These patients presented with typical features of HPLH, defined by early onset of overwhelming activation of T lymphocytes and macrophages and ...
Molecular genetics OMIM Feldmann et al. (2003) identified 6 different mutations in the UNC13D gene in 10 patients from 7 unrelated families with HPLH3 (see 608897.0001-608897.0006).

In a Turkish patient from a consanguineous family with primary hemophagocytic lymphohistiocytosis, Zur ...