OMIM:618977 - missing terms

[jxchong]

Disease ID and Name
Optic atrophy 12 OMIM:618977 is missing key terms

HPO ID and Name
HP:0000407 sensorineural deafness
HP:0001249 intellectual disability
HP:0001332 dystonia
HP:0001257 spasticity
HP:0007305 CNS demyelination (? not sure if this is the right/best term)

Further information (Frequency, Onset, Pubmed-references, Comments)

Per OMIM's writeup (see below), individuals with this condition also can have neurological features consistent with other diseases associated with this gene (this was also picked up by ClinGen). Some patients had additional variable neurologic features, including sensorineural deafness, impaired intellectual development, dystonia, and spasticity. In Baderna et al "He fulfilled the McDonald criteria for diagnosis of MS and brain MRI demonstrated widespread demyelinating lesions in both cerebral, cerebellar hemispheres as well as the midbrain and cord"

Baderna et al. (2020) reported a 20-year-old man who developed optic atrophy with impaired vision and poor color perception around age 4. The disorder was slowly progressive, and he had marked optic nerve pallor at age 20. At age 18, he was diagnosed with relapsing-remitting multiple sclerosis; brain imaging showed widespread demyelinating lesions. Family history was significant for mild optic atrophy in several family members. None of the family members, including the proband, had signs of spinocerebellar ataxia.

Caporali et al. (2020) reported affected individuals from 10 unrelated families with OPA12. Most had onset of visual problems in childhood, although some had onset as adults. Features included progressive visual loss, pallor of the optic discs, and atrophy of the optic nerves. Some patients had additional variable neurologic features, including sensorineural deafness, impaired intellectual development, dystonia, and spasticity. In 1 additional family (F6), heterozygous mutation carriers had OPA12, whereas 1 family member was compound heterozygous for 2 AFG3L2 mutations and had a phenotype consistent with SPAX5. The findings expanded the phenotype associated with mutations in the AFG3L2 gene