Autosomal dominant optic atrophy and congenital deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DOMINANT OPTIC ATROPHY PLUS SYNDROME DOA+ Konigsmark-Knox-Hussels syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 3212 |
| OMIM Id: |
125250
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| ICD-10: |
H47.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
autosomal dominant Autosomal dominant inheritance [Omim] |
| Age of onset: |
Childhood [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000603) | Central scotoma | 18 / 7739 | ||||
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(HPO:0000642) | Red-green dyschromatopsia | 25 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000576) | Centrocecal scotoma | 6 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0000650) | Abnormal amplitude of pattern reversal visual evoked potentials | 2 / 7739 | ||||
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(HPO:0000552) | Tritanomaly | 6 / 7739 | ||||
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(HPO:0000602) | Ophthalmoplegia | 56 / 7739 | ||||
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(HPO:0000666) | Horizontal nystagmus | 32 / 7739 | ||||
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(HPO:0007663) | Reduced visual acuity | 100 / 7739 | ||||
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(HPO:0000408) | Progressive sensorineural hearing impairment | 28 / 7739 | ||||
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(HPO:0001251) | Ataxia | Rare [HPO:probinson] | 413 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
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(HPO:0006958) | Abnormal auditory evoked potentials | 12 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 | ||||
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(HPO:0003557) | Increased variability in muscle fiber diameter | 24 / 7739 | ||||
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(HPO:0003200) | Ragged-red muscle fibers | 37 / 7739 | ||||
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(OMIM) | Axonal sensorineural polyneuropathy | 1 / 7739 | ||||
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(OMIM) | Ataxia may develop in middle age (less common) | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Absent or decreased auditory brainstem responses | 1 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
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(OMIM) | Myopathy, mild | 1 / 7739 | ||||
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(OMIM) | Auditory neuropathy | 2 / 7739 | ||||
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(MedDRA:10051403) | Mitochondrial DNA deletion | 6 / 7739 | ||||
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(OMIM) | Pattern visual evoked potentials show reduced amplitude | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ... |
| Clinical Description OMIM |
Konigsmark et al. (1974, 1974) described an association of congenital deafness with late-onset, progressive optic atrophy which resulted in only mildly reduced visual acuity. Six persons in 4 generations were affected. No male-to-male transmission was noted. However, males ... |
| Genotype-Phenotype Correlations OMIM |
Among 104 patients from 45 families with 33 different OPA1 mutations, Yu-Wai-Man et al. (2010) found that multisystem neurologic disease was associated with all types of mutations; however, there was an increased risk with missense mutations (odds ratio ... |
| Molecular genetics OMIM |
In a Japanese patient with optic atrophy and moderate hearing loss, Shimizu et al. (2003) identified a heterozygous mutation in the OPA1 gene (R445H; 605290.0011). Payne et al. (2004) identified the R445H mutation in the large ... |