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

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

Symbol : CMT2X;

CISMeF acronym : CMT2X;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2x; Charcot-marie-tooth disease, axonal, autosomal recessive, type 2x;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SPG11 gene (SPG11, 610844.0001);

Prefixed ID : #616668;

Details

Origin ID

616668;

UMLS CUI

C5569024;

Automatic exact mappings (from CISMeF team)
- X-linked Charcot-Marie-Tooth disease type 2 [ORDO Disease]
CISMeF manual mappings
- Autosomal recessive Charcot-Marie-Tooth disease type 2X [ORDO Disease]
- Charcot-Marie-Tooth disease axonal type 2X [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2X [DO Concept]
Genes related to phenotype
- Spg11 vesicle trafficking associated, spatacsin [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the hand [HPO term]
- Ankle flexion contracture [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Kyphoscoliosis [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Autosomal recessive Charcot-Marie-Tooth disease type 2X [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Charcot-Marie-Tooth disease type 2X [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2X [DO Concept]

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