familial hemophagocytic lymphohistiocytosis 3
Findings
No curated finding names familial hemophagocytic lymphohistiocytosis 3 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 UNC13D gene.
Definition from the Mondo Disease Ontology (MONDO:0012146), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
8 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 natural killer cell physiologyHPOHP:0012177
- 13 of 13 reported patients
- AnemiaHPOHP:0001903
- 12 of 14 reported patients
- Decreased total granulocyte countHPOHP:0001913
- 11 of 14 reported patients
- FeverHPOHP:0001945
- HemophagocytosisHPOHP:0012156
- HepatosplenomegalyHPOHP:0001433
- HypertriglyceridemiaHPOHP:0002155
- HypofibrinogenemiaHPOHP:0011900
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.
- UNC13DHGNC:23147
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: familial hemophagocytic lymphohistiocytosis 3
- Also called
- familial hemophagocytic lymphohistiocytosis type 3FHL3genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13Dhemophagocytic lymphohistiocytosis, familial, type 3HLH3HPLH3UNC13D genetic hemophagocytic lymphohistiocytosis