IEMbase 0397: NOGENE-related Pearson Syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 397 |
| Nosology | 6.3.01.01 |
| Gene | No single gene; single large-scale mtDNA deletion disorder |
| External IDs | OMIM:557000; ORPHA:699 |
| Generated mapping | UNMAPPED; low candidate Pancreatic_Agenesis.yaml |
| Candidate DisMech targets | Pearson_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents Pearson syndrome, also listed as Pearson marrow-pancreas syndrome and sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction. The record has no nuclear gene, consistent with the single large-scale mtDNA deletion disease class.
Characteristic rows include hypoplastic macrocytic anemia, sideroblastic anemia, low weight, endocrine and exocrine pancreatic dysfunction, vacuolization of hematopoietic precursors, increased plasma and urinary lactate, and increased lactate/pyruvate ratio. Additional rows include failure to thrive, hypertonia, hypotonia, leukocytosis, liver steatosis, proximal renal tubulopathy, thrombocytopenia, perinatal death, and evolution to Kearns-Sayre syndrome. There are no treatment rows.
DisMech phenotype coverage
The generated unmapped status is a false negative. Local
Pearson_Syndrome.yaml is the correct target and models infantile single
large-scale mitochondrial DNA deletion disease with hematopoietic and
proliferative-tissue deleted-mtDNA burden, transfusion-dependent sideroblastic
anemia, pancytopenia with vacuolated marrow precursors, exocrine pancreatic
dysfunction, poor growth, renal tubular disease, lactic acidosis, and potential
later evolution toward a Kearns-Sayre-like phenotype.
The generated Pancreatic_Agenesis.yaml candidate is not appropriate:
pancreatic dysfunction in Pearson syndrome is secondary to mitochondrial DNA
deletion disease, not congenital pancreatic organ agenesis.
Concordance and completeness
Judgement: false negative; resolve to Pearson_Syndrome.yaml.
The resources agree on Pearson marrow-pancreas identity, no single nuclear gene, single large-scale mtDNA deletion disease class, sideroblastic anemia, vacuolated marrow precursors, exocrine pancreatic dysfunction, poor growth, renal tubulopathy, lactate elevation, and overlap/evolution toward KSS in survivors.
Curation actions
- Map this record to
Pearson_Syndrome.yaml. - Do not map to
Pancreatic_Agenesis.yaml. - Consider adding IEMbase's hypoplastic macrocytic anemia wording, lactate/ pyruvate ratio, urinary lactate, liver steatosis, leukocytosis, endocrine pancreatic dysfunction, and proximal renal tubulopathy prompts after source verification.