eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| charcot-marie-tooth disease type 4b1 | ||||
| Disease ID | 1710 |
|---|---|
| Disease | charcot-marie-tooth disease type 4b1 |
| Definition | Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. |
| Synonym | charcot-marie-tooth disease type 4b1 (disorder) charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1 charcot-marie-tooth disease, type 4b charcot-marie-tooth disease, type 4b1 charcot-marie-tooth neuropathy, type 4b1 cmt4b cmt4b1 |
| Orphanet | |
| OMIM | |
| UMLS | C1832399 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 54840 | APTX | 2.429 | DISEASES 9639 | ARHGEF10 | 2.765 | DISEASES 820 | CAMP | 2.184 | DISEASES 1739 | DLG1 | 3.913 | DISEASES 1785 | DNM2 | 1.389 | DISEASES 2705 | GJB1 | 1.62 | DISEASES 3916 | LAMP1 | 1.552 | DISEASES 9516 | LITAF | 2.694 | DISEASES 4000 | LMNA | 1.305 | DISEASES 4359 | MPZ | 2.906 | DISEASES 4534 | MTM1 | 5.482 | DISEASES 8898 | MTMR2 | 7.275 | DISEASES 3084 | NRG1 | 1.496 | DISEASES 57716 | PRX | 4.053 | DISEASES 6305 | SBF1 | 5.037 | DISEASES 79628 | SH3TC2 | 2.979 | DISEASES 9990 | SLC12A6 | 2.904 | DISEASES 6663 | SOX10 | 2.65 | DISEASES 55775 | TDP1 | 3.672 | DISEASES 7150 | TOP1 | 1.773 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) MTMR2 | 11q21 |
| Disease ID | 1710 |
|---|---|
| Disease | charcot-marie-tooth disease type 4b1 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1710 |
|---|---|
| Disease | charcot-marie-tooth disease type 4b1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434402 | NA | 8898 | MTMR2 | umls:C1832399 | CLINVAR | NA | 0.561628651 | NA | MTMR2 | 11 | 95845063 | G | A |
| rs121434403 | NA | 8898 | MTMR2 | umls:C1832399 | CLINVAR | NA | 0.561628651 | NA | MTMR2 | 11 | 95849841 | C | A |
| rs121434404 | NA | 8898 | MTMR2 | umls:C1832399 | CLINVAR | NA | 0.561628651 | NA | MTMR2 | 11 | 95841652 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1710 |
|---|---|
| Disease | charcot-marie-tooth disease type 4b1 |
| Case | (Waiting for update.) |