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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary sensory neuropathy
Summary
- Synonym
-
- familial dysautonomia, type II
- hereditary sensory and autonomic neuropathy
- Definition
- A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
- Super Class
- neuropathy
External Links
- Disease Ontology
- DOID:0050548
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 5313 | PKLR | pyruvate kinase L/R | |
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30613 | Pyruvate kinase PKLR | |
| P54826 | Growth arrest-specific protein 1 |
