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IEMbase 0766: TBXAS1-related thromboxane synthase deficiency

Scope

Field Value
IEMbase ID 766
Nosology 14.3.01.01
Nosology code IEM0684
Gene TBXAS1
External IDs OMIM:231095; ORPHA:1802
Generated mapping UNMAPPED; weak candidate 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml
Candidate DisMech targets None exact
Review date 2026-07-08

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as TBXAS1-related thromboxane synthase deficiency, with alternate name Ghosal hematodiaphyseal syndrome. The source signal combines skeletal dysplasia and hematologic disease: diaphyseal and metaphyseal thickening from neonatal stages onward, anemia, large-bone swelling or pain, leukocytosis, thrombocytopenia, splenomegaly, and adolescent/adult cutis verticis gyrata.

DisMech phenotype coverage

No exact TBXAS1 / Ghosal hematodiaphyseal syndrome entry is present locally. The generated 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml candidate is a false positive. HMGCS2 deficiency is a ketogenesis disorder with hypoketotic metabolic decompensation and does not cover thromboxane synthase deficiency, hematodiaphyseal dysplasia, or the TBXAS1 gene.

Primary hypertrophic osteoarthropathy is also only phenotype context for eicosanoid-related bone and skin findings; it is a distinct HPGD/SLCO2A1-PGE2 disorder and should not be used as TBXAS1 coverage.

Concordance and completeness

Judgement: true local gap.

The IEMbase record is specific for Ghosal hematodiaphyseal syndrome and should be curated as a distinct eicosanoid/thromboxane pathway disease. Existing ketogenesis and prostaglandin E2 entries do not represent its identity or mechanism.

Curation actions

  • Add a distinct TBXAS1 / Ghosal hematodiaphyseal syndrome target before treating this record as covered.
  • Reject 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml as exact coverage.
  • Preserve diaphyseal/metaphyseal thickening, anemia, bone pain or swelling, thrombocytopenia, leukocytosis, splenomegaly, and cutis verticis gyrata as curation prompts.