Charcot-marie-tooth disease, X-linked dominant, 1

Preferred Label : Charcot-marie-tooth disease, X-linked dominant, 1;

Symbol : CMTX1;

CISMeF acronym : CMTX; CMTX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, X-linked, 1; Hmsn, X-linked; Hereditary motor and sensory neuropathy, X-linked; Charcot-marie-tooth peroneal muscular atrophy, X-linked; Cmt2; CMTX;

Description : Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1) and primary peripheral axonal (type 2) neuropathies. The demyelinating neuropathies classified as CMT type 1, also known as HMSN I, are characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy (see CMT1B; 118200). The axonal neuropathies classified as CMT type 2, also known as HMSN II, are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590) is a spinal type of CMT characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). There are X-linked, autosomal dominant (see 118200), and autosomal recessive (see 214400) forms of CMT. The form of Charcot-Marie-Tooth neuropathy that maps to chromosome Xq13 (CMTX1) is X-linked dominant or X-linked intermediate; heterozygous females are more mildly affected than are hemizygous males. - Genetic Heterogeneity of X-linked Charcot-Marie-Tooth Disease;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the connexin-32 gene (GJB1, 304040.0001);

Prefixed ID : #302800;

Details

Origin ID

302800;

UMLS CUI

C0393808;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Charcot-Marie-Tooth disease axonal type 2S [DO Concept]
- Charcot-Marie-Tooth disease type 2S [ORDO Disease]
- KIF1B wt Allele [NCIt concept]
- X-linked hereditary motor and sensory neuropathy (disorder) [SNOMED CT concept]
- immunoglobulin mu DNA binding protein 2 [ORDO Gene]
- symbol withdrawn CMTX1 [HGNC gene]
- tetracycline CMT-2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Neuropathy X Type 1 [NCIt concept]
- Charcot-Marie-Tooth disease X-linked dominant 1 [DO Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH Supplementary Concept]
- X-linked Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 1 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease X-linked dominant 1 [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Absent Achilles reflex [HPO term]
- Achilles tendon contracture [HPO term]
- Axonal degeneration [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Difficulty walking [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Distal upper limb amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Expressive aphasia [HPO term]
- Frequent falls [HPO term]
- Gait disturbance [HPO term]
- Hand muscle weakness [HPO term]
- Hand tremor [HPO term]
- Hyporeflexia [HPO term]
- Incomplete penetrance [HPO term]
- Incoordination [HPO term]
- Lower limb hyperreflexia [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Onion bulb formation [HPO term]
- Paraparesis [HPO term]
- Peripheral axonal degeneration [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory neuropathy [HPO term]
- Slowly progressive [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Tremor [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- X-linked progressive cerebellar ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth Neuropathy X Type 1 [NCIt concept]
- Charcot-Marie-Tooth disease X-linked dominant 1 [DO Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH concept]
- X-linked Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 1 (disorder) [SNOMED CT concept]

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