Charcot-marie-tooth disease, demyelinating, type 1b

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 1b;

Symbol : CMT1B;

CISMeF acronym : CMT1B; HMSN IB; HMSN I; HMSN1B; HMSN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMSN1B; Hereditary motor and sensory neuropathy ib; Charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b; Charcot-marie-tooth disease, slow nerve conduction type, linked to duffy; Hereditary motor and sensory neuropathy I; HMSN IB; Charcot-marie-tooth neuropathy, type 1b; Peroneal muscular atrophy; HMSN I; HMSN1;

Description : Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. - Classification On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin protein zero gene (MPZ, 159440.0001);

Prefixed ID : #118200;

Détails

Origin ID

118200;

UMLS CUI

C0270912;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth Disease [NCIt concept]
- Charcot-Marie-Tooth disease [MeSH concept]
- Charcot-Marie-Tooth disease [MedDRA LLT]
- Charcot-Marie-Tooth disease (disorder) [Inactive SNOMED CT concept]
- Peroneal muscular atrophy [MedDRA LLT]
- Peroneal muscular atrophy [ICD-9 code]
- Peroneal muscular atrophy [MedDRA Preferred Term]
- charcot-marie-tooth disease [MedlinePlus Topic]
- charcot-marie-tooth disease [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH concept]
- hereditary type I motor and sensory neuropathy [MeSH concept]
- peroneal muscular atrophy [SNOMED Notion]
- symbol withdrawn CMT1B [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease Type 1B [NCIt concept]
- Charcot-Marie-Tooth disease type 1B [DO Concept]
- Charcot-Marie-Tooth disease type 1B [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
- Charcot-Marie-Tooth disease, type IB (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ib [MeSH concept]
- charcot-marie-tooth disease, type ib [SNOMED Notion]
DO Cross reference
- Charcot-Marie-Tooth disease type 1B [DO Concept]
Genes related to phenotype
- Myelin protein zero [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cold-induced muscle cramps [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- Hypertrophic nerve changes [HPO term]
- Hyporeflexia [HPO term]
- Insidious onset [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Limb muscle weakness [HPO term]
- Myelin outfoldings [HPO term]
- Onion bulb formation [HPO term]
- Peripheral demyelination [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Slowly progressive [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Tonic pupil [HPO term]
- Ulnar claw [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth Disease Type 1B [NCIt concept]
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
- Charcot-Marie-Tooth disease type 1B [DO Concept]
- Charcot-Marie-Tooth disease, type IB (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ib [MeSH concept]
- charcot-marie-tooth disease, type ib [SNOMED Notion]
Validated automatic mappings to NTBT
- Charcot Marie Tooth disease [Disease (Nov.)]

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