Monogenic hearing loss
Gene: BDNF
Inheritance:Autosomal dominant;MultifactorialCreated: 7 Feb 2016, 4:28 p.m.
Mode of inheritance
Other
Phenotypes
#164230:{Obsessive-compulsive disorder, protection against}[Obsessive-compulsive disorder]; #209880:Central hypoventilation syndrome, congenital[Diminished pupillary light responses; Alveolar hypoventilationShallow breathing (decreased tidal volume)Normal respiratory ratePeriods of apneaAbnormal respiration due to defect in autonomic functionDecreased sensitivity to hypercapnia and hypoxemia; Poor feedingConstipationHirschsprung disease (16%); Increased sweating; Dysfunction of the autonomic nervous system; Poor temperature regulationDecreased basal body temperature; Tumors of the sympathetic nervous system (5 to 10%)NeuroblastomaGanglioneuromaGanglioneuroblastoma; Chronic hypoxemiaChronic hypercapnia]; #607499:{Bulimia nervosa, age of onset of weight loss in}[Recurrent episodes of binge eatingRecurrent inappropriate conpensatory behavior to prevent weight gain, including self-induced vomiting, laxative or diuretic abuse, fasting, excessive exerciseOverconcern with weight and body shapeFeelings of guilt associated with episodes; Susceptibility conferred by polymorphisms in the brain-derived neurotrophic factor gene (BDNF,and)]; #610269:{Anorexia nervosa, susceptibility to}]; #:{Memory impairment, susceptibility to}
Publications
BDNF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert