Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b

Preferred Label : Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b;

Symbol : CMT2A2B;

CISMeF acronym : CMT2A2B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitofusin 2 gene (MFN2, 608507.0013);

Prefixed ID : #617087;

Details

Origin ID

617087;

UMLS CUI

C4310725;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease Type 2A2B [NCIt concept]
- Charcot-Marie-Tooth disease type 2A2B [DO Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2A2B [DO Concept]
Genes related to phenotype
- Mitofusin 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed gross motor development [HPO term]
- Difficulty walking [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Kyphosis [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth Disease Type 2A2B [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients