eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| charcot-marie-tooth disease type 2b2 | ||||
| Disease ID | 1745 |
|---|---|
| Disease | charcot-marie-tooth disease type 2b2 |
| Definition | An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. Transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25). |
| Synonym | arcmt2b autosomal recessive axonal charcot-marie-tooth disease type 2b2 charcot-marie-tooth disease type 2b2 (disorder) charcot-marie-tooth disease, axonal, autosomal recessive, b2 charcot-marie-tooth disease, axonal, autosomal recessive, type 2b2 charcot-marie-tooth disease, axonal, autosomal recessive, type b2 charcot-marie-tooth disease, axonal, type 2b2 charcot-marie-tooth disease, neuronal, type 2b2 charcot-marie-tooth disease, type 2b2 charcot-marie-tooth neuropathy, type 2b2 cmt 2b2 cmt2b2 |
| Orphanet | |
| OMIM | |
| UMLS | C1854150 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 1378 | CR1 | 1.614 | DISEASES 113612 | CYP2U1 | 4.086 | DISEASES 3300 | DNAJB2 | 4.216 | DISEASES 57704 | GBA2 | 3.652 | DISEASES 2705 | GJB1 | 2.229 | DISEASES 56704 | JPH1 | 4.822 | DISEASES 4000 | LMNA | 2.96 | DISEASES 81857 | MED25 | 4.457 | DISEASES 4359 | MPZ | 2.558 | DISEASES 9990 | SLC12A6 | 3.602 | DISEASES 23321 | TRIM2 | 4.4 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) MED25 | 19q13.3 |
| Disease ID | 1745 |
|---|---|
| Disease | charcot-marie-tooth disease type 2b2 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0003431 | Decreased motor nerve conduction velocities HP:0003693 | Muscle atrophy, distal HP:0001265 | Decreased tendon reflexes HP:0002936 | Decreased distal sensation HP:0001284 | Areflexia HP:0002460 | Weakness of distal muscles |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1745 |
|---|---|
| Disease | charcot-marie-tooth disease type 2b2 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs145770066 | NA | 81857 | MED25 | umls:C1854150 | CLINVAR | NA | 0.48 | NA | MED25;MIR6800 | 19 | 49830790 | C | T |
| rs145770066 | 19290556 | 81857 | MED25 | umls:C1854150 | UNIPROT | Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. | 0.48 | 2009 | MED25;MIR6800 | 19 | 49830790 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002936 | Distal sensory impairment | MP:0000965 | abnormal sensory neuron morphology | any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| HP:0002460 | Distal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002936 | Distal sensory impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002460 | Distal muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003693 | Distal amyotrophy | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1745 |
|---|---|
| Disease | charcot-marie-tooth disease type 2b2 |
| Case | (Waiting for update.) |