HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4

General Information (adopted from Orphanet):

Synonyms, Signs: HLH4
HPLH4
FHL4
Number of Symptoms 14
OrphanetNr:
OMIM Id: 603552
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:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
2
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
3
(HPO:0001744) Splenomegaly 7/7 [HPO:probinson] 16582076 IBIS 337 / 7739
4
(HPO:0002240) Hepatomegaly 7/7 [HPO:probinson] 16582076 IBIS 467 / 7739
5
(HPO:0012156) Hemophagocytosis 6/7 [HPO:probinson] 16582076 IBIS 9 / 7739
6
(HPO:0001873) Thrombocytopenia 6/7 [HPO:probinson] 16582076 IBIS 224 / 7739
7
(HPO:0001903) Anemia 7/7 [HPO:probinson] 16582076 IBIS 289 / 7739
8
(HPO:0001875) Neutropenia 5/7 [HPO:probinson] 16582076 IBIS 83 / 7739
9
(HPO:0011900) Hypofibrinogenemia 3/5 [HPO:probinson] 16582076 IBIS 8 / 7739
10
(HPO:0003281) Increased serum ferritin 3/4 [HPO:probinson] 16582076 IBIS 32 / 7739
11
(HPO:0001945) Fever 16582076 IBIS 218 / 7739
12
(HPO:0002155) Hypertriglyceridemia 5/5 [HPO:probinson] 16582076 IBIS 67 / 7739
13
(HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In the Kurdish family in which they mapped the FHL4 locus, Zur Stadt et al. (2005) identified a 5-bp deletion in the syntaxin-11 gene (STX11; 605014). The syntaxin 11 protein was absent in the mononuclear cell fraction of ...