HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5

General Information (adopted from Orphanet):

Synonyms, Signs: FHL5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613101
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 19804848 IBIS 78 / 7739
2
(HPO:0012177) Abnormal natural killer cell physiology 19804848 IBIS 1 / 7739
3
(HPO:0012156) Hemophagocytosis 19804848 IBIS 9 / 7739
4
(HPO:0002155) Hypertriglyceridemia 19804848 IBIS 67 / 7739
5
(HPO:0003281) Increased serum ferritin 19804848 IBIS 32 / 7739
6
(HPO:0001954) Episodic fever 19804848 IBIS 27 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 8 unrelated probands with familial hemophagocytic lymphohistiocytosis mapping to chromosome 19p, from 2 Saudi Arabian and 6 Turkish consanguineous families, zur Stadt et al. (2009) identified homozygous mutations in the STXBP2 gene in all 8 patients (see, ...