familial hemophagocytic lymphohistiocytosis 5
Findings
No curated finding names familial hemophagocytic lymphohistiocytosis 5 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 STXBP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013135), 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
17 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 pulmonary interstitial morphologyHPOHP:0006530
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- ColitisHPOHP:0002583
- 1 of 1 reported patient
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Low-frequency sensorineural hearing impairmentHPOHP:0008573
- 1 of 1 reported patient
- LymphadenopathyHPO
Show the remaining 5
- HemophagocytosisHPOHP:0012156
- HepatosplenomegalyHPOHP:0001433
- HypertriglyceridemiaHPOHP:0002155
- Increased circulating ferritin concentrationHPOHP:0003281
- Recurrent feverHPOHP:0001954
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.
- STXBP2HGNC:11445
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
6 names
Resolves to: familial hemophagocytic lymphohistiocytosis 5
- Also called
- familial hemophagocytic lymphohistiocytosis type 5FHL5genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion diseasehemophagocytic lymphohistiocytosis, familial, type 5STXBP2 genetic hemophagocytic lymphohistiocytosis