familial dysautonomia

Term ID

DOID:11589

Synonyms

• hereditary sensory and autonomic neuropathy type 3
• hereditary sensory and autonomic neuropathy type III
• HSAN III
• HSAN3
• Riley-Day syndrome

Definition

A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death. (3)

References

• GARD:7581
• ICD10CM:G90.1
• MESH:D004402
• MIM:223900
• NCI:C84706
• ORDO:1764
• SNOMEDCT_US_2025_09_01:29159009
• UMLS_CUI:C0013364

Ontology

Human Disease   ( DOID:11589 )