Neuropathy, hereditary motor and sensory, type via, with optic atrophy

Preferred Label : Neuropathy, hereditary motor and sensory, type via, with optic atrophy;

Symbol : HMSN6A;

CISMeF acronym : CMT6A; CMT6; HMSN6A; HMSN6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMT6; Neuropathy, hereditary motor and sensory, type VI; Charcot-marie-tooth disease, type 6; Peripheral neuropathy and optic atrophy; HMSN6; Hmsn via; CMT6A; Charcot-marie-tooth disease, type 6a;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the mitofusin 2 gene (MFN2, 608507.0009);

Prefixed ID : #601152;

Details

Origin ID

601152;

UMLS CUI

C0393807;

Currated CISMeF NLP mapping
- Charcot Marie Tooth disease type 6 [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 6 [DO Concept]
- Hereditary motor and sensory neuropathy type 6 [ICD-11 More detail]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy with optic atrophy (disorder) [SNOMED CT concept]
- hereditary motor and sensory neuropathy VI [MeSH concept]
- hereditary motor and sensory neuropathy VI [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 6 [DO Concept]
Genes related to phenotype
- Mitofusin 2 [OMIM gene]
HPO term(s)
- Abnormality of visual evoked potentials [HPO term]
- Anosmia [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Central scotoma [HPO term]
- Color vision defect [HPO term]
- Decreased motor nerve conduction velocity [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]
- Distal sensory impairment of all modalities [HPO term]
- Dysmetric saccades [HPO term]
- Hyporeflexia [HPO term]
- Infantile onset [HPO term]
- Limb muscle weakness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Mild neurosensory hearing impairment [HPO term]
- Nerve biopsy shows axonal degeneration [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Pes cavus [HPO term]
- Positive Romberg sign [HPO term]
- Proximal muscle weakness [HPO term]
- Scoliosis [HPO term]
- Slow decrease in visual acuity [HPO term]
- Steppage gait [HPO term]
- Subacute deterioration of visual acuity [HPO term]
- Subnormal visual acuity [HPO term]
- Tinnitus [HPO term]
- Vocal cord paresis [HPO term]
ORDO concept(s)
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant optic atrophy plus syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease type 6 [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 6 [DO Concept]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy with optic atrophy (disorder) [SNOMED CT concept]
- hereditary motor and sensory neuropathy VI [MeSH Supplementary Concept]
- hereditary motor and sensory neuropathy VI [MeSH concept]

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