Charcot-marie-tooth disease with ptosis and parkinsonism

Preferred Label : Charcot-marie-tooth disease with ptosis and parkinsonism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant, also other autosomal dominant forms, as well as autosomal recessive, and X-linked forms;

Prefixed ID : 118301;

Details

Origin ID

118301;

UMLS CUI

C1861668;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease with ptosis and parkinsonism [MeSH concept]
- Charcot-Marie-Tooth disease with ptosis and parkinsonism [MeSH Supplementary Concept]
HPO term(s)
- Abnormal atrioventricular conduction [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies [HPO term]
- Central hypoventilation [HPO term]
- Chronic diarrhea [HPO term]
- Chronic sensorineural polyneuropathy [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Dementia [HPO term]
- Demyelination [HPO term]
- Distal amyotrophy [HPO term]
- Enhanced neurotoxicity of vincristine [HPO term]
- Gliosis [HPO term]
- Heart block [HPO term]
- Hyperhidrosis [HPO term]
- Hyperreflexia [HPO term]
- Nausea [HPO term]
- Orthostatic hypotension [HPO term]
- Parkinsonism [HPO term]
- Penetrating foot ulcers [HPO term]
- Peroneal muscle atrophy [HPO term]
- Peroneal muscle weakness [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Reduced tendon reflexes [HPO term]
- Sensory neuropathy [HPO term]
- Trophic limb changes [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
- X-linked inheritance [HPO term]
Not associated HPO term(s)
- CNS demyelination [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease with ptosis and parkinsonism [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease with ptosis and parkinsonism [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients