Riley-Day syndrome (DOID:11589)
Alliance: disease page
Synonyms: familial autonomic nervous dysfunction; familial dysautonomia; HSAN III
Alt IDs: OMIM:223900, ICD10CM:G90.1, MESH:D004402, NCI:C84706, UMLS_CUI:C0013364
Definition: A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.