hereditary hemophagocytic lymphohistiocytosis
Findings
No curated finding names hereditary hemophagocytic lymphohistiocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.
Definition from the Mondo Disease Ontology (MONDO:0015541), read 2026-09-29. CC BY 4.0.
Features
45 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.
- Abnormal circulating cytokine concentrationHPOHP:0011112
- Very frequent (80% to 99% of cases)
- Abnormality of multiple cell lineages in the bone marrowHPOHP:0012145
- Very frequent (80% to 99% of cases)
- Abnormality of tumor necrosis factor secretionHPOHP:0011118
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- HemophagocytosisHPOHP:0012156
- Very frequent (80% to 99% of cases)
- HypoalbuminemiaHPOHP:0003073
- Very frequent (80% to 99% of cases)
- Immune dysregulationHPOHP:0002958
- Very frequent (80% to 99% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- Very frequent (80% to 99% of cases)
- Increased circulating interferon-gamma concentrationHPOHP:0030356
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
Show the remaining 33
- Abnormal natural killer cell physiologyHPOHP:0012177
- Frequent (30% to 79% of cases)
- Abnormal renal physiologyHPOHP:0012211
- Frequent (30% to 79% of cases)
- Abnormal skin morphologyHPOHP:0011121
- Frequent (30% to 79% of cases)
- Abnormality of the coagulation cascadeHPOHP:0003256
- Frequent (30% to 79% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
- Cholestatic liver diseaseHPOHP:0002611
Genes
6 genes
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.
- NBASHGNC:15625
- Strong · PanelApp Australia · Autosomal recessive · 2025
- RHOGHGNC:672
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- PRF1HGNC:9360
- Supportive · Orphanet · Autosomal recessive · 2021
- STX11HGNC:11429
- Supportive · Orphanet · Autosomal recessive · 2021
- STXBP2HGNC:11445
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (11)
- Chediak-Higashi syndrome
- familial hemophagocytic lymphohistiocytosis 2
- familial hemophagocytic lymphohistiocytosis 3
- familial hemophagocytic lymphohistiocytosis 4
- familial hemophagocytic lymphohistiocytosis 5
- familial hemophagocytic lymphohistiocytosis type 1
- Griscelli syndrome type 2
- hemophagocytic lymphohistiocytosis due to RhoG deficiency
- hemophagocytic lymphohistiocytosis, familial, 6
- Hermansky-Pudlak syndrome 2
- Hermansky-Pudlak syndrome 9
Other names
4 names
Resolves to: hereditary hemophagocytic lymphohistiocytosis
- Also called
- familial hemophagocytic lymphohistiocytosisgenetic hemophagocytic lymphohistiocytosisgenetic hemophagocytic syndromeprimary hemophagocytic lymphohistiocytosis