Hereditary motor and sensory neuropathy, type iic

Preferred Label : Hereditary motor and sensory neuropathy, type iic;

Symbol : HMSN2C;

CISMeF acronym : CMT2C; HMSN2C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hmsn iic; Charcot-marie-tooth neuropathy, type 2c; CMT2C; Charcot-marie-tooth disease, axonal, autosomal dominant, type 2c;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008);

Prefixed ID : #606071;

Details

Origin ID

606071;

UMLS CUI

C1853710;

Automatic exact mappings (from CISMeF team)
- TRPV4 wt Allele [NCIt concept]
- transient receptor potential cation channel subfamily V member 4 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) [SNOMED CT concept]
- Charcot Marie Tooth disease type 2C [Disease (Nov.)]
- Charcot-Marie-Tooth disease axonal type 2C [DO Concept]
- Charcot-Marie-Tooth disease, Type 2C [MeSH concept]
- Charcot-Marie-Tooth disease, type 2C [MeSH Supplementary Concept]
- hereditary motor and sensory neuropathy, type IIC [MeSH concept]
- hereditary motor and sensory neuropathy, type IIC [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2C [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Abducens palsy [HPO term]
- Abducens palsy [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased distal sensory nerve action potential [HPO term]
- Diaphragmatic weakness [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]
- Down-sloping shoulders [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- Hand muscle atrophy [HPO term]
- Hyporeflexia [HPO term]
- Incomplete penetrance [HPO term]
- Intercostal muscle weakness [HPO term]
- Obstructive sleep apnea [HPO term]
- Oculomotor nerve palsy [HPO term]
- Onset [HPO term]
- Pes cavus [HPO term]
- Respiratory failure [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory neuropathy [HPO term]
- Short stature [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Sloping shoulders [HPO term]
- Stridor [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Variable age at onset [HPO term]
- Vocal cord paresis [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) [SNOMED CT concept]
- hereditary motor and sensory neuropathy, type IIC [MeSH Supplementary Concept]
- hereditary motor and sensory neuropathy, type IIC [MeSH concept]

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