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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Riley-Day syndrome
Summary
- Synonym
-
- HSAN III
- familial autonomic nervous dysfunction
- familial dysautonomia
- 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.
- Super Class
- hereditary sensory neuropathy
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A | |
| P54868 | Hydroxymethylglutaryl-CoA synthase, mitochondrial |
