GRACILE syndrome
Findings
No curated finding names GRACILE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Definition from the Mondo Disease Ontology (MONDO:0011308), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in early adulthood
HPO, annotations 2026-09-02
Features
15 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.
- AminoaciduriaHPOHP:0003355
- 20 of 20 reported patients · Neonatal onset
- CholestasisHPOHP:0001396
- 19 of 20 reported patients · Neonatal onset
- Very frequent (80% to 99% of cases)
- CirrhosisHPOHP:0001394
- Very frequent (80% to 99% of cases)
- Decreased transferrin saturationHPOHP:0012464
- Very frequent (80% to 99% of cases)
- Elevated hepatic iron concentrationHPOHP:0012465
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Chronic lactic acidosisHPOHP:0004925
- Neonatal onset
- Elevated circulating iron concentrationHPOHP:0003452
- Neonatal onset
- Increased circulating pyruvate concentrationHPOHP:0003542
- Neonatal onset
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.
- BCS1LHGNC:1020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: GRACILE syndrome
- Also called
- Fellman diseaseGrowth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome