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Charcot-Marie-Tooth disease axonal type 2H
Summary
- Synonym
-
- AR-CMT2C
- Autosomal recessive axonal CMT4C2
- Axonal Charcot-Marie-Tooth disease with pyramidal involvement
- CMT2H
- Charcot-Marie-Tooth disease type 2H
- autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
- autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110166
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 10855 | HPSE | heparanase | |
| 23175 | LPIN1 | lipin 1 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 84649 | DGAT2 | diacylglycerol O-acyltransferase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
