Riley-Day syndrome

Term ID

DOID:11589

Synonyms

• familial autonomic nervous dysfunction
• familial dysautonomia
• HSAN III

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. https://pubmed.ncbi.nlm.nih.gov/26769677/

References

• ICD10CM:G90.1
• MESH:D004402
• MIM:223900
• NCI:C84706
• SNOMEDCT_US_2023_03_01:204087006
• UMLS_CUI:C0013364

Ontology

Human Disease   ( DOID:11589 )