Giant axonal neuropathy
Synonyms: GAN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Giant axonal neuropathy | GAN |
| fr | Neuropathie à axones géants | |
| de | Riesenaxon-Neuropathie | |
| es | Neuropatía axonal gigante | |
| it | Neuropatia con assoni giganti | |
| nl | Reuzenaxonale neuropathie | |
| pt | Neuropatia axonal gigante | |
| pl | Neuropatia z olbrzymimi aksonami | = en |
| cs | Axonální neuropatie s obrovskými axony | = en |
| uk | Гігантська аксональна нейропатія | = en |
| zh | 巨轴索神经病 | = en |
| tr | Dev aksonal nöropati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256850 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C2Y | NTBT | index | validated |
| MONDO | 0009749 | E | validated | |
| MeSH | D056768 | E | validated | |
| UMLS | C5200933 | E | validated | |
| GARD | 6500 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GAN | Disease-causing germline mutation(s) in | Assessed | HGNC:4137 | ENSG00000261609 | 605379 | 16q23.2 | gigaxonin | 20301315[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 families | Worldwide | Family(ies) | Validated | 20301315[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301315[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2017-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0001284 | Areflexia | |
| HP:0003429 | CNS hypomyelination | |
| HP:0003405 | Diffuse axonal swelling | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002235 | Pili canaliculi | |
| HP:0003701 | Proximal muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0005922 | Abnormal hand morphology | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0010628 | Facial palsy | |
| HP:0001249 | Intellectual disability | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002317 | Unsteady gait | |
| HP:0002224 | Woolly hair | |
| Occasional (29-5%) | ||
| HP:0012503 | Abnormality of the pituitary gland | |
| HP:0003487 | Babinski sign | |
| HP:0002527 | Falls | |
| HP:0002857 | Genu valgum | |
| HP:0003690 | Limb muscle weakness | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 28300918[PMID]_19231187[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/643
- This record as JSON: /data/d/643.json