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IEMbase 0494: SLC2A10-related L-dehydroascorbate transporter deficiency

Scope

Field Value
IEMbase ID 494
Nosology 21.11.01.01
Gene SLC2A10
External IDs OMIM:208050; ORPHA:3342
Generated mapping MAPPED; HIGH; Arterial_Tortuosity_Syndrome.yaml
Candidate DisMech targets Arterial_Tortuosity_Syndrome.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive SLC2A10-related L-dehydroascorbate transporter deficiency as arterial tortuosity syndrome / GLUT10 deficiency. No treatments or biochemical rows are listed. Clinical rows include arachnodactyly, facial stigmata, diaphragmatic hernia, arterial hypertension, joint laxity, and ischemic stroke across neonatal-to-adult life stages.

DisMech phenotype coverage

Arterial_Tortuosity_Syndrome.yaml is the correct local target. The entry models autosomal recessive biallelic SLC2A10/GLUT10 arterial tortuosity syndrome, connective-tissue and arterial-wall matrix defects, TGF-beta pathway upregulation, fragmented elastic fibers and collagen deposition, arterial tortuosity, stenosis, pulmonary artery stenosis, aortic root aneurysm, diaphragmatic hernia, infant respiratory distress, SLC2A10 genetics, vascular imaging surveillance, and beta-adrenergic blockade.

Concordance and completeness

Judgement: correct generated mapping with high concordance.

IEMbase and DisMech agree on SLC2A10/GLUT10 identity, recessive inheritance, arterial tortuosity syndrome, diaphragmatic hernia, and ischemic stroke as a severe vascular complication. DisMech is stronger on arterial-wall mechanisms, vascular imaging, stenosis, aneurysm, pulmonary artery involvement, and histopathology. IEMbase adds compact prompts for arachnodactyly, facial stigmata, arterial hypertension, and joint laxity that are not prominent in the current local entry.

Curation actions

  • Treat this as covered by Arterial_Tortuosity_Syndrome.yaml.
  • If importing IEMbase prompts, verify arachnodactyly, facial stigmata, arterial hypertension, and joint laxity before adding them.
  • Consider adding "GLUT10 deficiency" and "L-dehydroascorbate transporter deficiency" as explicit synonyms if supported by the local evidence policy.