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IEMbase 0421: OPA1-related optic atrophy 1 and deafness

Scope

Field Value
IEMbase ID 421
Nosology 19.2.01.03
Gene OPA1
External IDs OMIM:125250; ORPHA:98673
Generated mapping UNMAPPED; low candidate Autosomal_Dominant_Optic_Atrophy_Plus.yaml
Candidate DisMech targets Autosomal_Dominant_Optic_Atrophy_Plus.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents OPA1-related optic atrophy 1 and deafness, with Behr syndrome listed as an alternate name. Inheritance is recorded as autosomal dominant and autosomal recessive. The characteristic clinical signal includes hearing loss, temporal optic nerve pallor, vision-loss onset, and ophthalmoplegia. Additional rows include ataxia, areflexia/hyperreflexia, developmental delay, diabetes, dysmotility, foot deformities, glaucoma, hypothyroidism, migraine, myopathy, neuropathy, ptosis, scotomata, spasticity, basal-ganglia calcifications, brain atrophy, cerebellar atrophy, cortical atrophy, and white-matter lesions. Lactate is low-normal to increased.

DisMech phenotype coverage

The generated unmapped status is a false negative for practical coverage. Local Autosomal_Dominant_Optic_Atrophy_Plus.yaml models OPA1 plus disease with OPA1 loss/dominant-negative dysfunction, impaired mitochondrial fusion and mtDNA instability, retinal ganglion cell degeneration, optic atrophy, sensorineural hearing loss, progressive external ophthalmoplegia, peripheral neuropathy, ataxia, mitochondrial myopathy, spastic paraplegia, dyschromatopsia, and centrocecal scotoma.

Local DisMech is stronger for OPA1 mitochondrial-dynamics mechanism and the plus-syndrome causal path. IEMbase adds a broader Behr/optic-atrophy-with-deafness phenotype checklist, including endocrine, brain-imaging, and dysmotility rows, and it explicitly records possible recessive inheritance.

Concordance and completeness

Judgement: resolve to Autosomal_Dominant_Optic_Atrophy_Plus.yaml as the best local target, with inheritance/subtype caveats.

The core disease identity is concordant: OPA1 optic atrophy with deafness and multisystem mitochondrial plus features. The local target may need subtype or scope refinement to represent Behr/recessive OPA1 presentations cleanly.

Curation actions

  • Map this record to Autosomal_Dominant_Optic_Atrophy_Plus.yaml.
  • Review whether the local OPA1 entry should add a Behr/optic-atrophy-with-deafness subtype or recessive inheritance branch.
  • Consider adding IEMbase's endocrine, dysmotility, imaging, lactate, ptosis, scotomata, and foot-deformity prompts after source verification.