IEMbase 0371: MTTP-related microsomal triglyceride transfer protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 371 |
| Nosology | 15.5.11.01 |
| Gene | MTTP |
| External IDs | OMIM:200100; OMIM:157147; ORPHA:14 |
| Generated mapping | MAPPED; Abetalipoproteinemia.yaml |
| Candidate DisMech targets | Abetalipoproteinemia.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MTTP-related microsomal triglyceride transfer protein deficiency, with alternate names abetalipoproteinemia, Bassen-Kornzweig syndrome, and ABL. Inheritance is autosomal recessive, with prevalence text of approximately 1:1,000,000. The cached record has no treatment rows.
Clinical and biochemical rows include acanthocytosis, ataxia, malabsorption, bleeding tendency, failure to thrive, limited deep tendon reflexes, pigmentary retinopathy, spiculated red cells, prothrombin ratio, plasma HDL cholesterol, plasma LDL cholesterol, lipid-laden small-intestinal biopsy, serum triglyceride, plasma Apo B, plasma vitamin A, and plasma vitamin E.
DisMech phenotype coverage
The generated mapping to Abetalipoproteinemia.yaml is correct. Local DisMech
models biallelic MTTP pathogenic variants, failed microsomal triglyceride
transfer, absent or extremely low apoB-containing lipoproteins, failure of
chylomicron and VLDL export, fat malabsorption, fat-soluble vitamin deficiency,
acanthocytosis, retinal disease, neurologic complications, coagulopathy,
hepatic complications, low LDL-C, low triglycerides, and low Apo B.
Local coverage is stronger for MTTP mechanism, fat-soluble vitamin replacement, low-fat diet, essential fatty acid intake, and broader management. IEMbase is stronger for specimen-level biomarker rows and small-intestinal biopsy wording.
Concordance and completeness
Judgement: correct mapping with high concordance.
The resources agree on MTTP identity, autosomal recessive inheritance, abetalipoproteinemia/Bassen-Kornzweig disease identity, absent or very low apoB-containing lipoproteins, fat malabsorption, acanthocytosis, failure to thrive, retinopathy, neurologic findings, bleeding/coagulation abnormalities, low LDL-C, low triglycerides, and fat-soluble vitamin deficiency.
Curation actions
- Keep the generated mapping to
Abetalipoproteinemia.yaml. - Consider future enrichment with small-intestinal lipid-laden biopsy, prothrombin ratio, plasma HDL cholesterol, limited deep tendon reflexes, and spiculated red cell wording after source verification.
- Do not treat absent IEMbase treatments as negative evidence; local dietary and fat-soluble vitamin management should remain.