HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

General Information (adopted from Orphanet):

Synonyms, Signs: HPLH2
HLH2
FHL2
Number of Symptoms 49
OrphanetNr:
OMIM Id: 603553
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:0000737) Irritability 93 / 7739
2
(HPO:0002516) Increased intracranial pressure 47 / 7739
3
(HPO:0012229) CSF pleocytosis 5 / 7739
4
(HPO:0002922) Increased CSF protein 27 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0001259) Coma 65 / 7739
7
(HPO:0001276) Hypertonia 317 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0002301) Hemiplegia 42 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001287) Meningitis 46 / 7739
12
(HPO:0002445) Tetraplegia 26 / 7739
13
(HPO:0002383) Encephalitis 41 / 7739
14
(HPO:0001744) Splenomegaly 337 / 7739
15
(HPO:0002240) Hepatomegaly 467 / 7739
16
(HPO:0000952) Jaundice 105 / 7739
17
(HPO:0001508) Failure to thrive 454 / 7739
18
(HPO:0000979) Purpura 27 / 7739
19
(HPO:0001903) Anemia 289 / 7739
20
(HPO:0012156) Hemophagocytosis 9 / 7739
21
(HPO:0001882) Leukopenia 51 / 7739
22
(HPO:0001873) Thrombocytopenia 224 / 7739
23
(HPO:0011900) Hypofibrinogenemia 8 / 7739
24
(HPO:0008151) Prolonged prothrombin time 13 / 7739
25
(HPO:0003573) Increased total bilirubin 10 / 7739
26
(HPO:0002155) Hypertriglyceridemia 67 / 7739
27
(HPO:0003073) Hypoalbuminemia 40 / 7739
28
(HPO:0002902) Hyponatremia 37 / 7739
29
(HPO:0003281) Increased serum ferritin 32 / 7739
30
(HPO:0007430) Generalized edema 5 / 7739
31
(HPO:0003075) Hypoproteinemia 27 / 7739
32
(HPO:0002716) Lymphadenopathy 129 / 7739
33
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
(HPO:0010547) Muscle flaccidity 466 / 7739
35
(HPO:0001324) Muscle weakness 859 / 7739
36
(HPO:0001252) Muscular hypotonia 990 / 7739
37
(OMIM) Reduced Natural Killer cell cytotoxicity 2 / 7739
38
(MedDRA:10016945) Fontanelle bulging 2 / 7739
39
(OMIM) Overproduction by T lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha 2 / 7739
40
(OMIM) Non-malignant mixed lymphohistiocytic infiltration of the reticuloendothelial system 2 / 7739
41
(OMIM) Reduced T cell cytotoxicity 2 / 7739
42
(OMIM) Hemophagocytosis in bone marrow, lymph nodes, spleen, liver, and central nervous system 2 / 7739
43
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
(OMIM) Increased VLDL 2 / 7739
45
(OMIM) CSF pleocytosis, particularly of lymphocytes 2 / 7739
46
(OMIM) Activated HLA DR+ T cells in peripheral blood 2 / 7739
47
(OMIM) Increased LDL 2 / 7739
48
(MedDRA:10001551) Alanine aminotransferase increased 4 / 7739
49
(OMIM) Decreased HDL 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory ...
Clinical Description OMIM Ericson et al. (2001) reported 7 unrelated families with FHL2 confirmed by genetic analysis. Four of the families were consanguineous: 3 from Turkey and 1 from Sweden. The patients presented between ages 1 and 58 months with fever, ...
Molecular genetics OMIM In 8 unrelated patients with familial hemophagocytic lymphohistiocytosis linked to 10q21-q22, Stepp et al. (1999) sequenced the coding region of the PRF1 gene and identified homozygous nonsense mutations in 4 patients (170280.0001-170280.0003) and missense mutations in the other ...