giant axonal neuropathy 1
Findings
No curated finding names giant axonal neuropathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0009749), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- PhotophobiaHPOHP:0000613
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- VomitingHPO
Show the remaining 20
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Pili canaliculiHPOHP:0002235
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
- Abnormal hand morphologyHPOHP:0005922
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GANHGNC:4137
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: giant axonal neuropathy 1
- Also called
- GANGAN giant axonal neuropathygiant axonal neuropathy caused by mutation in GANgiant axonal neuropathy type 1giant axonal neuropathy-1