CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 35 |
OrphanetNr: | |
OMIM Id: |
118230
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0001301) | Chronic sensorineural polyneuropathy | 2 / 7739 | ||||
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(HPO:0003091) | Trophic limb changes | 2 / 7739 | ||||
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(HPO:0001315) | Reduced tendon reflexes | 160 / 7739 | ||||
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(HPO:0003447) | Axonal loss | 11 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0003009) | Enhanced neurotoxicity of vincristine | 2 / 7739 | ||||
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(HPO:0003474) | Sensory impairment | 54 / 7739 | ||||
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(HPO:0005853) | Congenital foot contraction deformities | 1 / 7739 | ||||
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(HPO:0000774) | Narrow chest | 167 / 7739 | ||||
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(HPO:0009049) | Peroneal muscle atrophy | 8 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0002018) | Nausea | 44 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | 51 / 7739 | ||||
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(HPO:0001026) | Penetrating foot ulcers | 2 / 7739 | ||||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0001678) | Atrioventricular block | 59 / 7739 | ||||
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(HPO:0005150) | Abnormal atrioventricular conduction | 16 / 7739 | ||||
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(HPO:0001600) | Abnormality of the larynx | 15 / 7739 | ||||
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(HPO:0004875) | Neonatal inspiratory stridor | 1 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0011727) | Peroneal muscle weakness | 6 / 7739 | ||||
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(OMIM) | Sensory defect | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Distal arm and leg muscle atrophy and weakness | 2 / 7739 | ||||
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(OMIM) | Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies | 2 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(OMIM) | Protruding chest | 1 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(OMIM) | Peroneal muscle atrophy and weakness | 2 / 7739 | ||||
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(OMIM) | Normal or slightly reduced nerve conduction velocity | 2 / 7739 | ||||
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(OMIM) | Peculiar facies | 7 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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