Giant axonal neuropathy 1, autosomal recessive

Preferred Label : Giant axonal neuropathy 1, autosomal recessive;

Symbol : GAN1;

CISMeF acronym : GAN; GAN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GAN;

Description : Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by Berg et al., 1972; Igisu et al., 1975; Carpenter et al., 1974). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder (Tazir et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gigaxonin gene (GAN, 605379.0001);

Prefixed ID : #256850;

Details

Origin ID

256850;

UMLS CUI

C1850386;

Automatic exact mappings (from CISMeF team)
- GAN Gene [NCIt concept]
- GAN wt Allele [NCIt concept]
- Gallium Nitrate [NCIt concept]
- Giant axonal neuropathy [ICD-11 More detail]
- Gigaxonin [NCIt concept]
- gigaxonin [ORDO Gene]
- gigaxonin [HGNC gene]
- poly(dG-dA)n.poly(dC-dT)n [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Giant Axonal Neuropathy [NCIt concept]
- Giant axonal neuropathy [PASCAL descriptor]
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy (disorder) [SNOMED CT concept]
- giant axonal neuropathy [Disease (Nov.)]
- giant axonal neuropathy [MeSH Descriptor]
- giant axonal neuropathy [MeSH concept]
- giant axonal neuropathy 1 [DO Concept]
DO Cross reference
- giant axonal neuropathy 1 [DO Concept]
Genes related to phenotype
- Gigaxonin [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Abnormality of the hand [HPO term]
- Areflexia of lower limbs [HPO term]
- Autosomal recessive inheritance [HPO term]
- Curly hair [HPO term]
- Decreased number of peripheral myelinated nerve fibers [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]
- Dysarthria [HPO term]
- Facial palsy [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Motor axonal neuropathy [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Proximal muscle weakness [HPO term]
- Scoliosis [HPO term]
- Sensory axonal neuropathy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Steppage gait [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Giant axonal neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Giant Axonal Neuropathy [NCIt concept]
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy [PASCAL descriptor]
- Giant axonal neuropathy (disorder) [SNOMED CT concept]
- giant axonal neuropathy [MeSH Descriptor]
- giant axonal neuropathy [MeSH concept]
- giant axonal neuropathy [Disease (Nov.)]
- giant axonal neuropathy 1 [DO Concept]

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