multiple mitochondrial dysfunctions syndrome 3
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.
Definition from the Mondo Disease Ontology (MONDO:0014132), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 2 of 2 reported patients
- Beta-aminoisobutyric aciduriaHPOHP:0032480
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Elevated brain choline level by MRSHPOHP:0012706
Show the remaining 33
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- PolymicrogyriaHPOHP:0002126
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.
- IBA57HGNC:27302
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: multiple mitochondrial dysfunctions syndrome 3
- Also called
- fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57IBA57 deficiencyIBA57 fatal multiple mitochondrial dysfunctions syndromemultiple mitochondrial dysfunctions syndrome type 3