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

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

Symbol : CMT2P;

CISMeF acronym : CMT2G; CMT2P;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, axonal, type 2g; CMT2G; Charcot-marie-tooth neuropathy, type 2p;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the leucine-rich repeat- and sterile alpha motif-containing 1 gene (LRSAM1, 610933.0001);

Prefixed ID : #614436;

Détails

Origin ID

614436;

UMLS CUI

C3280797;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease, type 4A, axonal form [MeSH Supplementary Concept]
- leucine rich repeat and sterile alpha motif containing 1 [ORDO Gene]
- leucine rich repeat and sterile alpha motif containing 1 [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease axonal type 2P [DO Concept]
- Charcot-Marie-Tooth disease type 2P [ORDO Disease]
- Charcot-Marie-Tooth disease type 2P (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2P [DO Concept]
Genes related to phenotype
- Leucine-rich repeat- and sterile alpha motif-containing 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Fasciculations [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal vibration sensation [HPO term]
- Incomplete penetrance [HPO term]
- Peripheral axonal degeneration [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2G [ORDO Disease]
- Charcot-Marie-Tooth disease type 2P [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant Charcot-Marie-Tooth disease type 2G [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2P [DO Concept]
- Charcot-Marie-Tooth disease type 2P [ORDO Disease]
- Charcot-Marie-Tooth disease type 2P (disorder) [SNOMED CT concept]

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