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diabetes & deafness, maternally inherited; Ballinger-Wallace syndrome
Pathology:
- diabetes mellitus type 1
- sensorineural hearing loss
Genetics:
- mutations in the MT-TL1, MT-TK, or MT-TE mitochondrial genes [1]
- point mutation at position 3243 in human mitochondrial DNA, affecting gene encoding tRNALeu [2]
Clinical manifestations:
- chorioretinal abnormality
- macular dystrophy
- constipation, intestinal malabsorption
- high-frequency hearing loss
General
diabetes mellitus
deafness
genetic syndrome (multisystem disorder)
References
- Maternally inherited diabetes and deafness
Genetic and Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness
- Wikipedia: Diabetes mellitus and deafness
https://en.wikipedia.org/wiki/Diabetes_mellitus_and_deafness