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Charcot-Marie-Tooth disease type 1B
Summary
- Synonym
-
- CMT1B
- Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
- Charcot-Marie-Tooth neuropathy type 1B
- HMSN IB
- HMSN1B
- autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
- hereditary motor and sensory neuropathy IB
- peroneal muscular atrophy
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
- Super Class
- Charcot-Marie-Tooth disease type 1 autosomal dominant disease
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 |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P12821 | Angiotensin-converting enzyme | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P19367 | Hexokinase-1 | |
| P20916 | Myelin-associated glycoprotein |
