galactosemia 4
MONDO:0030105Mondo
Findings
No curated finding names galactosemia 4 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
12 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.
- HypergalactosemiaHPOHP:0012024
- 8 of 8 reported patients · Neonatal onset
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Impairment of galactose metabolismHPOHP:0004915
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 2 of 8 reported patients
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- Occasional (5% to 29% of cases)
- Decreased liver functionHPOHP:0001410
- Occasional (5% to 29% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very rare (1% to 4% of cases)
- Failure to thriveHPOHP:0001508
- Very rare (1% to 4% of cases)
- HepatomegalyHPOHP:0002240
- 0 of 8 reported patients
- Very rare (1% to 4% of cases)
- SepsisHPOHP:0100806
- Very rare (1% to 4% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- 1 of 8 reported patients · Neonatal onset
- Global developmental delayHPOHP:0001263
- 0 of 8 reported patients
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.
- GALMHGNC:24063
- Strong · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: galactosemia 4
- Also called
- GALAC4Galactose Mutarotase DeficiencyGALACTOSEMIA IV