hemophagocytic lymphohistiocytosis, familial, 6
MONDO:0033557Mondo
Findings
No curated finding names hemophagocytic lymphohistiocytosis, familial, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
27 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
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Decreased total monocyte countHPOHP:0012312
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating sCD25 concentrationHPOHP:0033833
- 1 of 1 reported patient
- Elevated circulating tumor necrosis factor alpha concentrationHPOHP:6000239
- 1 of 1 reported patient
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 1 reported patient
- HemophagocytosisHPOHP:0012156
- 1 of 1 reported patient
- HepatitisHPOHP:0012115
- 1 of 1 reported patient
Show the remaining 15
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypofibrinogenemiaHPOHP:0011900
- 1 of 1 reported patient
- Increased circulating ferritin concentrationHPOHP:0003281
- 1 of 1 reported patient
- Increased circulating interleukin 18 concentrationHPOHP:0034447
- 1 of 1 reported patient
- Increased circulating interleukin 1beta concentrationHPOHP:6000374
- 1 of 1 reported patient
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.
- RC3H1HGNC:29434
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: hemophagocytic lymphohistiocytosis, familial, 6
- Also called
- immune dysregulation and systemic hyperinflammation syndrome