Charcot-marie-tooth disease, axonal, type 2h

Preferred Label : Charcot-marie-tooth disease, axonal, type 2h;

Symbol : CMT2H;

CISMeF acronym : CMT2H;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive; Charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive;

Description : For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). CMT2H maps to the same region that contains the GDAP1 gene (606598), mutations in which cause autosomal recessive demyelinating CMT4A (214400).;

Inheritance : Autosomal recessive;

Prefixed ID : %607731;

Details

Origin ID

607731;

UMLS CUI

C1843173;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2H [ICD-11 More detail]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease axonal type 2H [DO Concept]
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
- Charcot-Marie-Tooth disease type 2H (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2H [MeSH concept]
- Charcot-Marie-Tooth disease, type 2H [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2H [DO Concept]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal regeneration [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]
- Hyperactive patellar reflex [HPO term]
- Hyperreflexia in upper limbs [HPO term]
- Juvenile onset [HPO term]
- Pes cavus [HPO term]
- Steppage gait [HPO term]
- Thin myelin sheaths [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease axonal type 2H [DO Concept]
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
- Charcot-Marie-Tooth disease type 2H (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2H [MeSH concept]
- Charcot-Marie-Tooth disease, type 2H [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients