Riley-Day syndrome
ICD-10 Code
G90.1
Riley-Day syndrome
Definition
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
Also known as Dysautonomia, Familial, familial dysautonomia, hereditary sensory and autonomic neuropathy 3, hereditary sensory and autonomic neuropathy type 3, hereditary sensory and autonomic neuropathy type III, hereditary sensory neuropathy type 3, HSAN 3, HSAN III, HSAN3, HSN 3, neuropathy, hereditary sensory and autonomic, type 3, neuropathy, hereditary sensory and autonomic, type III, Riley Day syndrome, Riley-Day syndrome — per MONDO
Also identified as
- DOID 11589 per MONDO
- ICD10CM G90.1 per MONDO
- MESH D004402 per MONDO
- NCIT C84706 per MONDO
- OMIM 223900 per MONDO
- Orphanet 1764 per MONDO
- SCTID 29159009 per MONDO
- UMLS C0013364 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |