Giant axonal neuropathy 2, autosomal dominant

Preferred Label : Giant axonal neuropathy 2, autosomal dominant;

Symbol : GAN2;

CISMeF acronym : GAN2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DDB1- and CUL4-associated factor 8 gene (DCAF8, 615820.0001).;

Prefixed ID : #610100;

Details

Origin ID

610100;

UMLS CUI

C1864695;

CISMeF manual mappings
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (disorder) [SNOMED CT concept]
DO Cross reference
- giant axonal neuropathy 2 [DO Concept]
Genes related to phenotype
- Ddb1- and cul4-associated factor 8 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Decreased motor nerve conduction velocity [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]
- EMG: chronic denervation signs [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal tactile sensation [HPO term]
- Impaired distal vibration sensation [HPO term]
- Onion bulb formation [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons [ORDO Disease]
See also inter- (CISMeF)
- giant axonal neuropathy, autosomal dominant [MeSH concept]
- giant axonal neuropathy, autosomal dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons [ORDO Disease]
- giant axonal neuropathy, autosomal dominant [MeSH concept]
- giant axonal neuropathy, autosomal dominant [MeSH Supplementary Concept]

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