familial hemophagocytic lymphohistiocytosis 4
Findings
No curated finding names familial hemophagocytic lymphohistiocytosis 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.
Definition from the Mondo Disease Ontology (MONDO:0011336), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 7 of 7 reported patients
- FeverHPOHP:0001945
- 24 of 24 reported patients
- HepatomegalyHPOHP:0002240
- 21 of 21 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 31 of 31 reported patients
- Recurrent feverHPOHP:0001954
- 14 of 14 reported patients
- SplenomegalyHPOHP:0001744
- 21 of 21 reported patients
- HypofibrinogenemiaHPOHP:0011900
Show the remaining 7
- JaundiceHPOHP:0000952
- 8 of 14 reported patients
- EdemaHPOHP:0000969
- 5 of 14 reported patients
- Skin rashHPOHP:0000988
- 5 of 14 reported patients
- ConjunctivitisHPOHP:0000509
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 14 reported patients
- SeizureHPOHP:0001250
- 1 of 14 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STX11HGNC:11429
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: familial hemophagocytic lymphohistiocytosis 4
- Also called
- familial hemophagocytic lymphohistiocytosis type 4FHL4genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11hemophagocytic lymphohistiocytosis, familial, type 4HLH4HPLH4STX11 genetic hemophagocytic lymphohistiocytosis