IEMbase 0444: PUS1-related pseudouridine synthase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 444 |
| Nosology | 10.1.09.01 |
| Gene | PUS1 |
| External IDs | OMIM:600462; ORPHA:2598 |
| Generated mapping | MAPPED; high candidate Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml |
| Candidate DisMech targets | Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PUS1-related pseudouridine synthase 1 deficiency, also called myopathy, lactic acidosis, and sideroblastic anemia type 1 (MLASA1). It records autosomal recessive inheritance. Biochemical rows include increased plasma lactate. Clinical rows include exercise intolerance, sideroblastic anemia, hypertrophic cardiomyopathy, increased mitochondrial DNA depletion in muscle, and variable dysmorphic features such as exophthalmos, gum hypertrophy, micrognathia, ptosis, retrognathia, short nose, and short philtrum. There are no treatment rows.
DisMech phenotype coverage
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml is the correct local
target. The local MLASA1 context covers PUS1-related mitochondrial tRNA
pseudouridylation, myopathy, exercise intolerance, lactic acidosis,
sideroblastic anemia, and several craniofacial or dysmorphic features. The
generated high-confidence mapping is supported.
Concordance and completeness
Judgement: correct PUS1/MLASA1 mapping with high concordance.
The source and local file align on gene, disease label, mechanism, and core myopathy/lactic-acidosis/sideroblastic-anemia phenotype. IEMbase adds prompts that may be useful for evidence review, especially muscle mitochondrial DNA depletion, hypertrophic cardiomyopathy, and the full dysmorphic-feature set.
Curation actions
- Keep the mapping to
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml. - If importing IEMbase-derived prompts, preserve the MLASA1/PUS1 subtype context and verify muscle mitochondrial DNA depletion, hypertrophic cardiomyopathy, exophthalmos, gum hypertrophy, ptosis, retrognathia, short nose, and short philtrum against source evidence.