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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 |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2877 | GPX2 | glutathione peroxidase 2 | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3098 | HK1 | hexokinase 1 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
