| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (5.0%) |
23733358 |
Ethambutol toxicity exacerbating the phenotype of CMT2A2. Fonkem E, Skordilis MA, Binkley EM, Raymer DS, Epstein A, Arnold WD, Kissel JT, Lawson VH. Muscle Nerve. 2013;48(1):140-4. |
| Optic atrophy | ||
| MFN2 OPA1 | ||
| c|SUB|T|669|G p|SUB|F|223|L | ||
| Charcot-Marie-Tooth Disease Females Homo sapiens Middle Aged Phenotype | ||
| 1 (5.0%) |
22762946 |
Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses. Lv H, Wang L, Li W, Qiao X, Li Y, Wang Z, Yuan Y. Clin Neuropathol. 2013;32(1):16-23. |
| Limb muscle weakness | ||
| KIF1B MFN2 | ||
| p|SUB|R|364|W;RS#:119103265 p|SUB|R|94|W;RS#:119103263 p|SUB|W|740|R | ||
| Adult Age of Onset Base Sequence Charcot-Marie-Tooth Disease Child Child, Preschool Disease Progression Females Genotype Guanosine Triphosphate Phosphohydrolases Homo sapiens Male Middle Aged Mitochondrial Proteins Molecular Sequence Data Mutation Phenotype Young Adult |
Total: 45
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001760 | Abnormality of the foot | Very frequent (99-80%) |
| HP:0003390 | Sensory axonal neuropathy | Very frequent (99-80%) |
| HP:0003438 | Absent Achilles reflex | Very frequent (99-80%) |
| HP:0003444 | EMG: chronic denervation signs | Very frequent (99-80%) |
| HP:0003474 | Sensory impairment | Very frequent (99-80%) |
| HP:0009027 | Foot dorsiflexor weakness | Very frequent (99-80%) |
| HP:0001155 | Abnormality of the hand | Frequent (79-30%) |
| HP:0001761 | Pes cavus | Frequent (79-30%) |
| HP:0002359 | Frequent falls | Frequent (79-30%) |
| HP:0002378 | Hand tremor | Frequent (79-30%) |
| HP:0002495 | Impaired vibratory sensation | Frequent (79-30%) |
| HP:0002522 | Areflexia of lower limbs | Frequent (79-30%) |
| HP:0002601 | Paresis of extensor muscles of the big toe | Frequent (79-30%) |
| HP:0002936 | Distal sensory impairment | Frequent (79-30%) |
| HP:0003394 | Muscle spasm | Frequent (79-30%) |
| HP:0003551 | Difficulty climbing stairs | Frequent (79-30%) |
| HP:0006460 | Increased laxity of ankles | Frequent (79-30%) |
| HP:0007010 | Poor fine motor coordination | Frequent (79-30%) |
| HP:0007328 | Impaired pain sensation | Frequent (79-30%) |
| HP:0009046 | Difficulty running | Frequent (79-30%) |
| HP:0009053 | Distal lower limb muscle weakness | Frequent (79-30%) |
| HP:0010829 | Impaired temperature sensation | Frequent (79-30%) |
| HP:0025238 | Foot pain | Frequent (79-30%) |
| HP:0030237 | Hand muscle weakness | Frequent (79-30%) |
| HP:0001371 | Flexion contracture | Occasional (29-5%) |
| HP:0001605 | Vocal cord paralysis | Occasional (29-5%) |
| HP:0001609 | Hoarse voice | Occasional (29-5%) |
| HP:0001618 | Dysphonia | Occasional (29-5%) |
| HP:0002143 | Abnormality of the spinal cord | Occasional (29-5%) |
| HP:0002174 | Postural tremor | Occasional (29-5%) |
| HP:0003376 | Steppage gait | Occasional (29-5%) |
| HP:0003401 | Paresthesia | Occasional (29-5%) |
| HP:0003487 | Babinski sign | Occasional (29-5%) |
| HP:0003731 | Quadriceps muscle weakness | Occasional (29-5%) |
| HP:0006844 | Absent patellar reflexes | Occasional (29-5%) |
| HP:0006915 | Inability to walk by childhood/adolescence | Occasional (29-5%) |
| HP:0008944 | Distal lower limb amyotrophy | Occasional (29-5%) |
| HP:0012452 | Restless legs | Occasional (29-5%) |
| HP:0012513 | Upper limb pain | Occasional (29-5%) |
| HP:0031108 | Triceps weakness | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Very rare (4-1%) |
| HP:0000407 | Sensorineural hearing impairment | Very rare (4-1%) |
| HP:0000648 | Optic atrophy | Very rare (4-1%) |
| HP:0000662 | Nyctalopia | Very rare (4-1%) |
| HP:0002650 | Scoliosis | Very rare (4-1%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000648 | Optic atrophy | 1 |
| HP:0001605 | Vocal cord paralysis | 1 |