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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary sensory and autonomic neuropathy type 2
Summary
- Synonym
-
- HSAN2
- hereditary sensory and autonomic neuropathy type II
- Definition
- A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.
- Super Class
- hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070161
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 84649 | DGAT2 | diacylglycerol O-acyltransferase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55084 | Trifunctional enzyme subunit beta, mitochondrial | |
| P60891 | Ribose-phosphate pyrophosphokinase 1 | |
| Q13614 | Myotubularin-related protein 2 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
